Chiari Malformation

Published: 28 December 2022

Written by sug_97

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Categories: Atlantoaxial Instability, Cerebellar Ptosis, Comorbidities, Craniocervical Instability, Degenerative Disc Disease, Dysautonomia, Ehlers-Danlos Syndromes, Etiological Co-Factors, Heritable Disorders of Connective Tissue, Intracranial Hypertension, Intracranial Hypotension

You Might Have More Than A Migraine If…

High-Pressure Headaches

Those that suffer from high pressure tend to feel pressure behind the eyes (often mistaken for sinus headaches) and report feeling like their “head is going to explode” from the pressure. High-pressure headaches are generally characterized by being worse when laying down – often awaking in the middle of the night or first thing in the morning with a headache, and the headache tends to dissipate to some degree after being upright for a period of time (and that period of time is different for everybody). Caffeine generally exacerbates high-pressure headaches.

For more on Intracranial HYPERtension: http://chiaribridges.org/brain-pressure-understanding-intracranial-hypertension/
For a list of common high-pressure symptoms:: http://chiaribridges.org//glossary/symptoms-of-intracranial-hypertension/.

Low-Pressure Headaches

Those that suffer from low-pressure headaches tend to report feeling like there is an invisible pressure pushing down from the top of the head, often making it feel like your “head is going to implode.” Low-pressure headaches are characterized by being worse when upright and relieved by laying down. Low-pressure headaches are typically a sign of a cerebrospinal fluid leak (CSF Leak). The longer that the leak has existed, the less obvious the positional element is – meaning the patient can be upright longer before they feel the pressure at the top of their head, and they tend to need to lay down longer before getting any measure of relief. Caffeine often helps relieve low-pressure headaches.

For more on Intracranial HYPOtension & CSF Leaks: http://chiaribridges.org//cerebrospinal-fluid-leaks/
For a list of common low-pressure symptoms:: http://chiaribridges.org//glossary/symptoms-of-intracranial-hypotension/

Occipital Headaches

Chiari headaches are felt at the occiput – at the base of the back of the skull and upper neck. They are generally tussive in nature, where they are exacerbated by valsalva maneuvers, which generally include: coughing, sneezing, heaving, laughing hard, or bearing down (like with a bowel movement or childbirth). These maneuvers reduce cardiac output (the amount of blood coming from the heart with each heartbeat), which in turn affects the attempted flow of cerebrospinal fluid, and it increases vagal stimuli.

For more on Chiari Malformation: http://chiaribridges.org//chiari-malformation/
For an expansive review of the name and definition of Chiari Malformation: http://chiaribridges.org//whats-in-a-name-chiari-malformation/

Connecting the Three Headaches

Untreated high pressure can cause cranial leaks (which leads to low pressure) – often accompanied by cerebrospinal fluid leaking through the nose or ears.
CSF leaks can sometimes seal on their own leading to rebound high pressure (which is temporary) or continued high pressure if they originally had high pressure.
Untreated high pressure can push the cerebellar tonsils down into the foramen magnum where it blocks the flow of cerebrospinal fluid, leading to occipital headaches (often diagnosed as a Chiari 1 Malformation) AND in return, the blockage of cerebrospinal fluid further increases intracranial pressure.
Untreated low pressure can cause the brain to sag and as it sags the cerebellar tonsils can get lodged into the foramen magnum where it blocks the flow of cerebrospinal fluid, leading to occipital headaches (often diagnosed as a Chiari 1 Malformation).
Untreated spinal leaks can create a suctioning or pulling down effect where the cerebellar tonsils can get lodged into the foramen magnum where it blocks the flow of cerebrospinal fluid, leading to occipital headaches (often diagnosed as a Chiari 1 Malformation).
All of the above is most common in patients with a connective tissue disorder such as Ehlers-Danlos Syndrome.

Major Problem Regarding Our Diagnoses & Treatment Options:

Doctors and radiologists alike, tend to see the herniated tonsils and assume a small posterior fossa.
Most do not check for high pressure or low pressure, even when directly asked and symptoms are present.
When a posterior fossa decompression is finally offered, the high or low pressure is often left untreated which leads to a failed decompression.
By the time sufferers get a name to go with their symptoms, we jump at the opportunity for relief.

The “Bobble-head Sensation” – When It Feels Like Your Neck Can No Longer Hold Up Your Head

While most of us experience this feeling either intermittently or continuously, it is generally related to structural instability issues:

Craniocervical Instability (CCI, also known as Syndrome of Occipitoatlantialaxial Hypermobility) involves vertical hypermobility (back and forth sliding) of the craniocervical junction (interface between the occipital bone and the 1st and 2nd vertebrae), where the neck is no longer properly supporting the cranium. This condition can be dangerous as it often involves brain stem compression that can lead to a vast array of symptoms of Dysautonomia (dysfunction of the Autonomic Nervous System – ANS).

For more on Craniocervical Instability and Other Related Disorders: http://chiaribridges.org/craniocervical-instability-related-disorders/
For a list of common CCI symptoms: http://chiaribridges.org//glossary/symptoms-of-craniocervical-instability/
For a list of common AAI (a condition commonly seen with CCI) symptoms: http://chiaribridges.org//glossary/symptoms-of-atlantoaxial-instability/

Subaxial Instability (SAI; also known as Cervical Instability) involves hypermobility of the C2/C3 to the C7 intervertebral discs. This condition (like most conditions involving the cervical spine) is a major cause of muscle spasms (in the neck and throughout the body at any point below the disc issues. When these neck spasms occur, they can cause the “Bobble-head sensation” where it feels like your neck can no longer hold up your head. This disc degeneration can lead to paralysis as discs compress the spinal cord.

Important Questions to Ask Your Neurosurgeons: http://chiaribridges.org/important-questions-for-your-neurosurgery-appointment/

Originally written 10/2019
Updated 12/2022

Published: 20 April 2022

Written by sug_97

7 Comments

Categories: A Chiari Warrior's Journey, Testimonials

As I sit down to update my journey, I am crushed that we’re still figuring things out (and nothing really was as I was initially told it would be), yet at the same time, I’m so thankful that we’re continuing to figure things out. Nobody should have to fight a fight like this (every symptom, every diagnosis), but all of this just increases my resolve to change it before anyone else in my family (or yours) is having to fight it! What we fail to change in our generation, our children and their children will face in theirs!

Looking back, I have always had symptoms of Ehlers-Danlos Syndrome (EDS). As a child, I was in the school nurse’s office for stomach problems at least once a week. I was “double-jointed” and my friends always asked me to do maneuvers that I thought everyone should really be able to do if they tried. I was athletic early on, a tom-boy. I particularly loved playing softball (or baseball with tennis balls was the absolute best), but my ankles rolled when I started to run. Despite the fact that I was the only player that twisted their ankle multiple times in every game, I didn’t think there was really anything abnormal about me. Later, as an adult, I had repeated miscarriages and complications in all of my pregnancies, but the doctors conveniently came up with different explanations for each “rare occurrence.” It couldn’t possibly be all those rare mishaps, but EDS explained it all.

My mother passed away from a brain aneurysm the day after my 18th birthday. She was just 37 years old when she died. As a child she had a lazy eye and scoliosis of the spine, so an eye patch and back brace were a normal part of her childhood attire. She suffered from migraines throughout her adulthood, but nothing was more tale-telling than reading her journal after she passed, with multiple entries about repeated headaches and neck pain. Decades after her death, my maternal grandmother (my mother’s mother) developed multiple brain aneurysms over the course of a decade. Each time one appeared, she had it filled with titanium coils. I always admired her fight for life.

The first headaches that I remember started immediately after giving birth to my first son in 1992. It was a cesarean section at an Army hospital in Fort Ord, California. Instead of an epidural, they gave me three spinal injections to numb me from the chest down. At my postpartum check-up, I complained of daily headaches when upright. My primary care doctor ordered a CT scan, but because it was just a few years after my mom had died they looked only for brain aneurysms and found none. I was still having those orthostatic headaches six months later.

The Accident that Shook Everything

In 2000, I was a Bible College student and stay-at-home mom of three happy and active children (ages 8, 5, and 2). One September night, I was in a car accident that changed all of our lives. My neck was never the same again. My initial symptoms were head/neck pain, but all radiology reports indicated that everything was “unremarkable.” I tried everything they offered to me: rest, acupuncture, acupressure, steroid injections, osteopathic and chiropractic care, nerve stimulation units, physical therapy, pain meds, etc. Nothing worked long-term. Then in 2005, my neurological problems started intensifying. I began having bouts of partial paralysis in my legs and hands. I would just wake up one morning and out of the blue, I would have no fine motor skills. I would wake up feeling as though I had no thigh muscles to support me when I walked or tried to step up a step, and I had difficulty coordinating my footsteps. My primary care doctor at the time did blood tests and concluded that my “potassium level was on the low side of normal, so it must have been from potassium shock,” and he thought that no other tests were warranted. I started having vertigo whenever I was at any elevated height, even just a step or two up, like my brain couldn’t figure out how to balance with visual changes in height (I’d take a step up or down like the step was much higher or lower than it actually was). I also started having noticeable memory issues and intermittent trouble processing information. They tested to see if I was having small seizures in my sleep. When that was ruled out, they referred me to the memory clinic for further cognitive testing. They had no cognitive baseline to compare my results to, but said that I “tested higher than 89% of the population, so I should be happy,” and that I should just try reducing stress in case it was stress-related. They didn’t understand that it didn’t matter to me “how I compared to others.” I was only 34 years old and something was very wrong with me; I wanted answers that had nothing to do with the general population. In 2006, my eyes started twitching all day, every day, until the muscles just wore out and I could no longer hold them open completely. Oddly, one of my college professors inquired about my eyes and recommended that I have it investigated because it “could be neurological in origin.” When I did talk to my doctor about it, he saw the recommendations of the Memory Clinic and attributed it to stress as well, without any testing.

My Chiari Diagnosis

Finally, in 2010, ten years after the car accident, another MRI was done at my insistence to check for aneurysms once again (because I still was having excruciating head/neck pain and trouble holding my head up). I received an email from my primary care doctor that they found a cause of all of my symptoms. It was a condition called Chiari Malformation and the neurosurgery department would be contacting me to make an appointment. The neurosurgeon (who became my neurosurgeon) checked through my MRIs and said that the Chiari Malformation was evident on my first MRI after the accident ten years earlier. I was told that it was congenital and that it is commonly believed to be a result of prenatal drug use or lack of proper prenatal care (which was devastating to hear, but not all that unlikely as I was born in 1971. It also ended up being very wrong “textbook information” that they tell us all). Desperate for a measure of relief, I underwent a full decompression surgery a few weeks later. Missing the fact that part of my brain was in my spinal canal was 100% the hospital’s fault, but in hindsight, I really wish that I had done more research before surgery. I had comorbid conditions (many of which my doctors hadn’t even heard of, didn’t fully understand, and more importantly, they didn’t know the connection between these comorbids and my herniated tonsils). Initially, I felt quite a bit better. The release of pressure in my head helped my headaches. It was short lived though. Those undiagnosed comorbids caused my decompression to ultimately fail, although it all unfolded over several years.

Post-op Complication: Pseudomeningocele

When I was released from the hospital following decompression surgery, I was instructed not to lift, push, or pull anything for two weeks so that my dura patch would have a chance to adhere. The problem was, I could feel fluid squeezing out of the patch far beyond that two-week limit. I developed a pseudomeningocele (blue box above), which can be normal immediately after surgery before the dura adheres, but as long as there is no active leak, the body should absorb the fluid and the pseudomeningocele should quickly resolve. My neurosurgeon tapped some of the fluid out with a syringe twice and we waited patiently to see if it would subside on its own. It did not subside and in December 2012 (just over two years post-decompression), I developed acute vertigo. Everything was spinning and rocking, non-stop. It didn’t matter if my eyes were open or closed. I was waking up vomiting in my sleep from the dizziness. I couldn’t walk at all without falling hard to my right. I had no sense of balance at all and it didn’t just come and go, it was constant. Another MRI was done and it showed that my cerebellum was absorbing the fluid from the pseudomeningocele (so the cerebrospinal fluid was inside my brain, not just surrounding it; see light blue circle in image above). The decision was made to put in a subgaleo-peritoneal shunt (SP shunt), which runs from the pseudomeningocele to my peritoneum. They expected that it might take up to six months to fully drain from my cerebellum, but I woke up from the anesthesia with no signs of vertigo. I believe this surgery saved my life, but as with all shunts (especially amongst those with EDS, which I had not yet been diagnosed with), the shunt was destined to cause problems all by itself.

My Many Shunt Revisions

In April 2013, an unrelated CT Scan revealed that my shunt was no longer in my peritoneum. My NS scheduled for a general surgeon to “tie in” my shunt so it would not happen again (surgery #3). We went several months without complication until that November. The tied in shunt pulled out of my peritoneum again (it was excruciating). Hoping gravity would help in the matter, my NS did an incision just under my right rib cage and dropped it down into my peritoneum (surgery #4). Shortly thereafter, radiologist reports started showing a concern for the location of my brain and I was diagnosed with “Sagging Brain Syndrome.” So my six-week post-op appointment (which my NS did faithfully after every surgery) became my pre-op appointment for my 5th related surgery. This time a non-adjustable valve was attached to the shunt (at my chest) in hopes that by slowing down the amount of CSF being drained by the shunt, my head could retain more fluid and my brain could once again lift and become buoyant. Five months later I developed a hernia and upon closer examination (during surgery), it was found that my peritoneum was literally falling apart from all the trauma of the shunts; so my hernia removal surgery became a reconstruction surgery where my abdominal wall was pulled together with mesh, while carefully ensuring that the shunt didn’t come out (surgery #6). The shunt never moved again. As my brain continued to sag, the choice was made to replace the valve with an adjustable valve and in November of that same year, I was having surgery #7. The valve was adjusted to its slowest possible setting in hopes of finding a balance where it drained enough to keep the hydrocephalus at bay, yet retain enough CSF to lift my brain and keep it lifted and out of my spinal canal (so we could establish flow to the spinal canal and avoid the possibility of a syrinx).

Diagnosis: Ehlers-Danlos Syndrome

Despite my concerns that I might have a connective tissue issue and being told over-and-over again that I “didn’t look like someone with Ehlers-Danlos Syndrome,” I was finally diagnosed with it in May 2015. After finally finding a neurologist who understood the role that our connective tissues can have in a Chiari Malformation, I was given a referral to a geneticist. It still wasn’t as easy as it should be though. The geneticist did not know much about Chiari or Ehlers-Danlos related conditions (although he didn’t initially admit to that), so I had no idea at that point what was and was not related, and neither did my doctors. I received a call from the geneticist’s assistant and I agreed to send her pictures of my hypermobile maneuvers from the Beighton Scale. I could do all but bend over and put my hands flat on the floor with my knees straight, but I was able to do that when I was younger (and thinner). I was given a 9/9 on the Beighton Scale and was told that he would just mark my chart as diagnosed “hypermobile” and that he didn’t need to see me. I honestly didn’t know any better at this point, but I was about to learn something very important. I sat there thinking about what this “hypermobile” diagnosis would mean for me and decided to look more into EDS for myself. I read about the high risk of aneurysms, organ tearing, miscarriages, etc. and I was back on the phone with that assistant within twenty minutes. She asked if she could call me back, and within the hour the geneticist had decided that he needed to see me. He set up an appointment with me within twenty-four hours and asked if it was okay if he had a few others (doctors and medical students) there as well, since they’re a training hospital and they “don’t really come across patients with Ehlers-Danlos” (he should have told me that from the beginning). I agreed. Despite his lack of knowledge on EDS related comorbidities, he did know exactly where on my body to look for characteristics of EDS (all of which I thought I didn’t have). For instance, my skin isn’t unusually elastic, except in my upper arms and upper thighs. My skin isn’t translucent (I’m olive complected), except for on my breasts, back, and inner forearms. My skin isn’t unusually soft, except on my back. Now concerned that I might have Vascular Type EDS (vEDS), he decided to have me tested for that. The test was easy on my part but expensive on theirs. They drew blood and had it refrigerated and shipped to a lab in Washington state. It took thirty days for them to make sure that there was no mutation in my COL3A1 (collagen 3; alpha 1) gene, which has a median mortality age of 48. Initially, I felt devastated, since I was already 44. I decided that I hadn’t fought through all that I had, to only live a few more years. Thirty days later, the test came back indicating that I didn’t have vEDS and by default, I was diagnosed with Hypermobility Type EDS (hEDS). I was relieved, but the geneticist assured me that I still needed to be cautious. Since EDS symptoms are known to cross the type boundaries, and we already knew that vascular complications ran in the family (with the aneurysms) and with me personally (my peritoneum tearing), it technically made me “hEDS with vEDS crossover symptoms” and I’d probably have to explain that to my doctors for the rest of my life, so they remain aware of my potential to have additional vascular problems.

My Poor Mess of a Neck

The electric shock feeling in my spine (Lhermitte’s Sign) that I’d had intermittently for years, became an all-day, everyday thing, and much stronger in intensity. The MRI revealed that the herniated disc I had between my C3/4 was getting worse. The disc was removed with cadaver put in its place and the discs were fused together. My 8th surgery (ACDF = Anterior Cervical Discectomy and Fusion) wasn’t related to Chiari, but it was related to the EDS. We knew that my cervical spine was really bad from the beginning, but it got worse. I am now actually diagnosed with Degenerative Disc Disease in all three levels of my spine, but my neck has by far taken the brunt of it all. The ACDF, while 100% necessary, compromised the discs adjacent to it, and every disc from C4-7 is either bulging or herniated (Subaxial (cervical) Instability), so additional surgeries are likely to be needed.

Learning to Advocate for Myself

Over the past several years I have become an enthusiast of Chiari related research and MRIs (out of medical necessity more than anything). It became apparent to me that I absolutely needed to know everything that was going on in my body in case my doctors didn’t. When I first started, I’d print out studies and lay in bed with multiple high-lighters. I had such brain fog that I’d lay there crying at the fact that I was reading and rereading the same paragraphs over again, but I knew that I had to learn it despite how impossible it seemed. I prayed a lot for God to help me with my understanding and He did. I also started looking at the medications I was taking, the supplements I was taking, and what the ideal doses were for me (especially those that would help with inflammation and cognition), and other natural remedies. The first thing that I removed was all of the nerve meds that they had me on for peripheral neuropathy. I was maxed out on Nortriptyline (a tricyclic antidepressant) and almost maxed on Gabapentin (both of which had caused me to gain an incredible amount of weight over the years). When I informed my primary care doctor that I wanted to go off of them all, he thought it was a bad idea because of the severity of my neuropathy. I insisted though and asked him to help me to wean myself off of both of them in healthy intervals, and let’s “just see.” With the first down-dose, I physically felt a reduction in inflammation. It took me many months to wean off and get them out of my system, but in hindsight, I think this was the single best decision that I could have made. The longer I was on supplements instead of the nerve meds, the more my brain-fog improved, and I now believe that I have regained all that I’ve lost cognitively and then some.

Syringobulbia

In 2016, I was reviewing some of my old MRIs and I saw a large CSF filled hole in my lower medulla oblongata (lower brainstem). It was obvious in all MRI series since 2015, yet I was told that all was stable. After researching it, I asked my neurologist to take a look and see if it could be Syringobulbia. She referred my question to my neurosurgeon and he confirmed that I had an 11mm cyst in my brain stem. This type of cyst happens when there is a blockage of cerebrospinal fluid and is most frequent when the brain stem is also herniated below the foramen magnum (Chiari 1.5). It explained a lot of the problems that I was having, that we had thought to be unrelated. For instance, and I had a decreased sensitivity to temperature for years, never feeling hot or cold; and never having the automatic reactions that I should have had in response to temperature, like sweating and shivering. I could comfortably be outside in heat above 100° without breaking a sweat, or be outside in shorts and a tank-top when it was a chilly 30° morning without ever shivering. I also developed tachycardia and I am now medicated to keep my heart rate down to a safe level. My neurosurgeon ordered a new MRI in April 2017. The size of the syrinx had decreased to 9mm but was draining down my spinal cord forming an additional syrinx (Syringomyelia).

Consulting a Specialist

After all that I had been through in my fight, in April 2017, I decided to pay out of the pocket and have an online consultation with a Chiari Specialist in New York, who specializes in Chiari with EDS (the best $300 that I’ve spent in my fight). I sent him my pertinent medical records and copies of my MRIs in advance, wanting to find out what my doctor did right, and what he did wrong; and what course of action should be taken at that point. My expectation was that he would give me reasons why I should go to New York to see him, but that’s not at all what he told me. He told me what my doctor did right and that he didn’t disagree with the course of action that my neurosurgeon wanted to take. He said that my brain had sagged as low as it really could, but that since my high/low pressures had balanced out, and I was feeling better than I had in years, my syringes really should dictate our next course of action.

In March 2018, following an exceptional year (at least where my head and neck are concerned) new imaging was done. My neurosurgeon asked me to come in to review it. It gave me a chance to tell him about the specialist’s opinions. My MRI showed that the Syringobulbia had decreased another 2mm. I asked him what that meant for the cervical syrinx, and that had almost completely disappeared. I asked him to go back to my images and correct me if I was wrong, but “the only reason that a syrinx (in either location) would dissipate like that was if I was finally getting CSF flow down my canal (despite my severe brain sag).” He agreed and I think he was a little surprised to see me think on my feet and figure that out in front of him (where I wasn’t having to ask anyone or look it up). He also confirmed that I had an Acquired Chiari, secondary to Intracranial Hypertension. He applauded me for learning all that I had and said that he wished that he had checked my pressures before decompressing me, as it may have changed the course of action that we had taken. And we agreed to wait a year and see where the syringes (syrinxes) are. As I left his office that day, I felt such a sense of relief, that we were finally getting CSF flow like the decompression in 2010 was meant to do.

My Extensive Epidural CSF Collection

In 2022, my neurosurgeon contacted me telling me that he was retiring and he’d like to have one last MRI of my entire spine (he added the brain to the request at my request). Unbeknownst to me, he ordered a CSF Leak Protocol, which consists of less slices, but they’re specifically looking for leaks. The images showed an “extensive extradural CSF collection from C7-L4, consistent with a CSF Leak and probable dural tear or CSF Venous Fistula.” They followed up with a Dynamic CT Myelogram. A Dynamic is different than a regular CT Myelogram, as they do it over 2-3 days, and they insert the contrast little by little into my spinal canal, and watch carefully for it to leave the spinal canal. CSF leaks and dural tears aren’t uncommon amongst Ehlers-Danlos patients, and usually happen in the front or back of the canal. CSF Venous Fistulas on the other hand are a much newer phenomenon, and they usually happen on the sides of the canal (more often on the right side). After two days of grueling tests, they found no active leaks or evidence of fistulas and surmised that what they saw on the MRIs to be “residual artifacts” from a leak that I had in the past… a leak that could have pulled my brain down into my spinal canal in the first place.

Sagittal and axial views of my thoracic and lumbar images showing the residual artifacts of an extensive extradural CSF collection.

It’s been a long road, hard road. I still battle inflammation and I’m definitely not done with surgeries. Eventually, I will need a ventriculoatrial (VA) shunt to hopefully resolve my high-pressure issues and enable us to remove my over-draining SP shunt that is making my brain sag. But for right now, I’m just enjoying feeling so much better! I praise God every step of the way, as I know that He’s there making a way out of no way. I have no idea why He took so long or why others haven’t seen the same results (because He loves them as much as He loves me), but I don’t have to have all the answers. I’ll just praise Him through the course of my journey, as He’s never let me go through it alone!

*I dedicate this story to my family: John (husband), Ron (dad), Johnathan (son), MyKaella (daughter), Jojo (son) and my daughters-in-law, Violet and Sarah. Thank you all for all your help and for standing and kneeling beside me throughout my entire ordeal. You’ve been there for me and loved me through this long haul and I praise God for each and every one of you.

Originally written in 2018. Updated April 2022.

Published: 30 July 2020

Written by sug_97

5 Comments

Categories: A Chiari Warrior's Journey, Acquired Chiari Malformation, Atlantoaxial Instability, Craniocervical Instability, Dysautonomia, Ehlers-Danlos Syndromes, Heritable Disorders of Connective Tissue, Intracranial Hypertension, Intracranial Hypotension, Mast Cell Activation Syndrome, Syringomyelia, Testimonials, Tethered Cord Syndrome

Colton had just finished his Chiari Decompression. He was headache free and doing great! His neurosurgeon came to me and said, “This is a genetic disorder and Emmalyn should be checked.” Two weeks later I took Emmalyn into the Chicago area to be sedated for her first MRI of the brain and spine. Three hours later I met Emmalyn in recovery where she came out of anesthesia smiling. Emmalyn was three years old and asymptomatic, not even a headache. Colton’s neurosurgeon called me the next day and let me know that she was only 5mm herniated, but in the spinal MRI, she had two separate syrinxes. A smaller one in her cervical spine and a very large one in her thoracic spine. Her opinion was to decompress Emmalyn right away as she was very concerned about the two syringes and explained, “With the decompression, it should allow the syringes to dissipate.” So, we scheduled her first decompression for two-weeks later, on July 31st, 2012. Emmalyn went through her first decompression like a champ and was released from hospital after three days. This is when Emmalyn’s headaches started. It seemed like once a day she would be getting a headache. Two weeks into recovery Emmalyn was sitting in a chair and said that she felt sick to her stomach, so she ran into the bathroom, I followed and as she was heaving her head went deeper into the toilet. I picked her up and her eyes darted to the right and she couldn’t talk to me. I immediately called 911. When the paramedics arrived, they swept her from my arms and rushed her to the ambulance. They kept her in front of our house in the ambulance for about ten minutes before they came and told me she was having a seizure; they didn’t want to jostle her head, so they called the helicopter. We were told to meet the helicopter at the hospital, which is forty-five minutes away. My husband and I jumped in our van and I don’t think I have ever seen my husband drive so fast; we beat the helicopter there. When the helicopter landed, we were in the ER to greet her when she came off the elevator, and when she did, she was covered in blood and screaming. I looked to the helicopter nurse and she said, “Two minutes before landing she came to and she wanted her mom and pulled out her IV.” She had a forty-five-minute seizure. We are in “small-town,” USA, so the ER did a quick MRI, bloodwork, but no EEG and at the time I didn’t know she should have had one. So, they said she was fine and released her from the hospital. Of course, after speaking with her neurosurgeon the next day she had us in the car to make the five-hour drive for her to be admitted. After three days of tests, they concluded that she had chemical meningitis and put her on medication and anti-seizure meds for six months. Let me tell you that was the scariest time of my life, but Emmalyn took it like a champ. In three months, we had repeat scans, her decompression site looked good, but her syringes didn’t change in size, so we chose to wait and see.

In 2013, Emmalyn developed leg pain and started having incontinence. She potty trained early and never had problems. After going through more imaging and urodynamics they said that she didn’t look like she was tethered but they were sure that she was. They called it Occult Tethered Cord. So, Emmalyn underwent a tethered cord release on September 27, 2013. She only spent one night in the hospital and was up and doing all well, so they let her go home. After the release, her incontinence subsided but the leg pain continued.

Over the next two years, we monitored Emmalyn and her headaches continued. In 2014, we did our next repeat MRI and it showed that Emmalyn’s syrinx in her thoracic spine had gotten a little longer in length. It concerned her then neurosurgeon and she made the decision that we should do another decompression in hopes to reduce the size of Emmalyn’s syrinx. On July 1st, 2014 Emmalyn went for her second decompression. Once again, she came through everything like a champ. One thing about Emmalyn she is a fighter!

For the next year Emmalyn struggled with more headaches and leg pain, so more imaging was done. She had developed scar tissue that was blocking her CSF flow once again. After the imaging, the decision was made that in November, she would undergo yet another decompression to clean up the scar tissue so that flow could be reestablished. Emmalyn underwent her third decompression on November 2nd, 2015. She sailed through surgery and the surgeon came out to talk with my dad and me. She explained that Emmalyn’s future could be complicated as she was developing a lot of scar tissue and that would make things more complex because it could continue to block the flow. The pain after these surgeries is something, they don’t prepare you for and after this surgery, it was worse than the last two. She came out swinging and hated everything. They got her pain under control, but it seemed like more pain medication was needed this time to keep it that way. This time, she spent four days in the hospital before returning home.

After the surgery, her pain got a little better. Then on December 29th, our world got turned upside down. We were at my niece’s house in Wisconsin and my mom had run her hand down the back of Emmalyn’s head and she yelled for me to come over there. Emmalyn had a large lump on the back of her head that was squishy. We rushed to the ER in Madison and they took her straight to MRI and that is when we found out Emmalyn had developed her first pseudomeningocele. It was very large. They only let us leave with her when I promised to get an appointment with her neurosurgeon within the next week. On a good note, Emmalyn won her first American Girl Doll Grace while in the ER. She was so excited. It brought a smile to her face in between the bad headaches she was having. At this point in life, Emmalyn had lived with two years of headaches and had become known as the girl with a smile. She always smiled through her pain.

On January 5th, 2016 we took the five-hour drive back to her neurosurgeon. She took one look at the back of her head, and the imaging and she said we would be going back into surgery the next day to repair. Emmalyn was an add-on to their schedule, so she wouldn’t be going to surgery until noon. Keeping a five-year-old with no food or drink after midnight to noon is quite a task, but when the prior surgeries took longer than they thought, going until 5 pm was more than a task. She was mad, tired, hungry and beyond over it. They came to get her and even with all she had been through, she smiled and said, “love you all, see you when I wake up.” She was always so easy going into the operating room. After three hours, her neurosurgeon came out and said there was a pin-sized-hole in the dura. She showed me a picture, and she repaired it with a patch. Once again in true Emmalyn fashion, she woke up swinging, mad and in pain. By this point, they had her pain regimen down to a T, which is SO important. Her recovery went well, and she was out in three days and sent home.

Once again, her headaches and leg pain continued, but she was able to be upright again. In the middle of February, the back of her head became squishy again and her headaches started to get worse when upright. I called her neurosurgeon, and as always, more imaging was ordered, and as I suspected, her pseudomeningocele was back again. She delayed surgery as she wanted to do some research. So, Emmalyn laid down for most of a month. On March 31, we returned to the hospital for her sixth surgery. She went in and did the repair and placed an EVD drain, to check the pressure and drain CSF fluid. The drain was placed for a week, and it was the happiest and pain-free I had seen Emmalyn in over two years. Her pressures were all above 28, which meant high pressure. She made the decision that a VP shunt needed to be placed. Emmalyn went in for her seventh surgery on April 6th. Her Neurosurgeon came out and talked to me and my parents, she let me know that if this patch was to blow and another pseudomeningocele was to appear that at this point she wouldn’t know what to do next, that Emmalyn was too complex for her. I wanted to cry in fear for the first time. My dad said then what, whatever it was we would make it happen. Thank God for my dad, my rock. She said that she would refer us to a specialist she knew of in NYC. I prayed right there this night for god to take care of my little girl and heal her. After she woke up, the pain wasn’t as bad. Shunt placement seemed to be much easier than decompression. She stayed for two more days and was released to return home.

Emmalyn’s headaches continued, and one month later her pseudomeningocele reared its ugly head. I called her neurosurgeon and she did imaging and this leak was bigger than the other two. It consumed the whole back of her head. She made the referral to the specialist in New York City, NY.

After sending all her imaging, op notes, doctor’s notes, and everything else. We consulted with the specialist’s office. An appointment was made to go to NYC and see him on June 10th, 2016. My sister, Emmalyn and I boarded the plane for our first trip ever to NYC. We met with the specialist, who went over all of Emmalyn’s imaging, talked with all of us, and checked Emmalyn over. He let us know that Emmalyn was a very complex case, that her first neurosurgeon had removed too much bone and most likely cause her to have Craniocervical Instability (CCI). He also said that he suspected that she had a connective tissue disorder called Ehlers-Danlos Syndrome (EDS), and that was why healing had been hard and why the dural patch was not holding. His surgical plan was to go in and once again patch the leak in the dura, clean up the scar tissue, place a titanium plate to hold where her brain was slumping, place an EVD drain again for a week to make sure the VP shunt was needed, and because of the EDS aspect to be closed by a plastic surgeon with muscle flaps to make sure it would hold. Before he would schedule surgery, he wanted to speak with her former neurosurgeon in depth to know what he was in for when he cut open the back of her head. He said that we could fly home and he would be in touch on when surgery would be scheduled.

Emmalyn struggled for a whole summer with severe headaches as we waited for surgery to be scheduled. Finally, at the beginning of September, we received the call that we would be returning to NYC on Sept 15, 2016, for pre-op and surgery on the 19th. Dreams come true and prayers answered. We would have to be in the city for two weeks, as she would be in the hospital for a little over one week. We returned to NYC and everything went as planned. She and I walked to the OR. She had a smile on her face, and she said, “I love you, mommy,” as she went under. As always Emmalyn woke up swinging and in so much pain. We were at a new hospital with nurses and staff that didn’t know her pain regimen, so momma bear kicked into action. At first, they wouldn’t listen when I told them that the only thing that worked for her for the first twenty-four hours after surgery was morphine, and then she could be switched to Oxycodone. Once I was finally heard Emmalyn’s pain was taken care of. Within forty-eight hours Emmalyn was up and walking with her drain and feeling great. Her pressures were still above 28 the whole week so the decision was made to put the VP shunt back in place with the valve set at 1.5. She returned to the OR on September 26th for the shunt and was discharged from the hospital the next day. The next sixty-eight days were the best days of my daughter’s life; she was finally pain-free!

On the 4th of December 2016, Emmalyn’s leg pain returned, and two days later her headaches returned when upright. I emailed her new neurosurgeon immediately. He ordered stat MRIs of the brain and complete spine. I received a copy of the MRIs on disc and looked at them when I got home, and my worst fears came true – the pseudomeningocele had returned. I emailed her neurosurgeon a few images and he called me right away. He explained that he believed the leak was back and he wanted us on a plane ASAP. We flew back to NYC in two days and my parents followed three days later. When we arrived, he admitted her immediately through the ER. He explained surgery would take place on December 14, 2016, for another pseudomeningocele repair. On the 13th of December, he came into her room and switched gears, he believed that her shunt was malfunctioning and there was not a leak. I told him that her symptoms were the same as every leak before and he said he was very sure it wasn’t; so, on the 14th they would do the surgery to check her shunt. He took her into surgery on the 14th and come out and said that there was nothing wrong with the shunt, but he dialed it to 0.5 to help with the CSF and we could return home after post-op.

We returned home in time for Christmas and Emmalyn’s headaches continued to be horrible. I kept in constant contact with her new neurosurgeon about it and he kept saying let’s wait and see. We ended up having some insurance troubles as his office no longer excepted our insurance, so we had to take out an additional private policy for Emmalyn to be able to continue to see him. After all that was solved, we returned to NYC at the beginning of March for an ICP bolt test. Emmalyn returned to the OR on March 2nd, 2017 to have an ICP bolt placed to once again check her pressures as he believed her current VP shunt wasn’t aggressive enough. Her pressures were still a little high but not like before. She was in the hospital for forty-eight hours with the bolt and then it was removed at her bedside. She screamed through the removal. He sat down with us at post-op and talked to us in-depth that he still believed that there was not a leak and that he wanted to place a new VP shunt, with no valve, but instead she would have an anti-siphoning device behind her ear to slow it down when she was upright. He believed this was the best course of action for Emmalyn. He is the specialist, so of course, why would I question it. So, we scheduled her next surgery for March 22nd.

We returned to NYC at the end of the month and she went back into her first surgery of two on March 22, 2017. In the first surgery, he placed an EVD drain to drain CSF and to check pressures again. Her pressures were normal but on the higher size so he proceeded to surgery number two on March 29th. He removed the EVD drain and placed the new no valve shunt and the anti-siphoning device that could be changed when needed. It was a very painful surgery for Emmalyn as the placement of the anti-siphoning device was behind her ear in a very tender spot, and he also let me know she was the first child he had ever placed this in. She had recovered and returned home. Her headaches continued.

We had to come back in May for imaging as no one in our area would do MRI’s on her now due to liability issues with the shunt. The pseudomeningocele was still present and her headaches were still strong. He made the decision to give it until July and if things hadn’t improved, he would open the back of her head and check for the leak.

We returned in July and nothing had improved. We sat down to discuss the next surgery and he switched gears again. He said after a discussion with his colleagues, he still didn’t think there was a leak. He then let me know he thought adding a lumbar shunt would help the situation to take care of the pain and the pseudomeningocele. Once again over my better judgment, he is the specialist, so we scheduled surgery, and her lumbar shunt was placed and set at 1.5. It was an easier surgery for her, so her hospital stay wasn’t as long. The next few days at the hotel were horrible her head pain was so she couldn’t even walk or be upright in bed without a debilitating headache. After speaking with her neurosurgeon, he said take her to the ER and have it dialed up to 2.0. Upon arrival at the ER, they checked her shunt and after her previous MRI, the resident dialed it to 0.5 rather than 1.5 (so it was virtually wide open). The current resident dialed it to 2.0 in front of me. Things improved. Recovery from this developed a whole new symptom – stomach pain. Now she had daily headaches, leg pain, and stomach pain, but through it all remained smiling as much as she could. He wanted her back in a month, for new imaging, to see how things were doing.

In a month nothing improved, she just continued to get worse. So, in August we returned for imaging and an appointment. The imaging showed that the pseudomeningocele had almost gone away. He was so happy. I was too, but her symptoms had not gone away at all and now the added stomach pain was causing even more suffering. So, he said we should return again the next month, and they would externalize the shunts to see if the stomach pain would go away and if it did, we would convert the VP to a VA to get the tubing out of her stomach.

We returned in September. He externalized her VP shunt but not the LP. Her stomach pain didn’t improve so he said it wasn’t the shunts, so he took her back into the OR to place her shunts back in place. Although I explained her headache pain was not better and I still believed she had a leak from her dura. He said he was positive there wasn’t a leak.

We returned to Illinois. Her symptoms continued to be debilitating. I emailed him at least five times a week for answers and he quit answering. So, I called his office and they would set up phone call appointments that he never kept. All attempts to contact him were ignored for three long months, while our eight-year-old Emmalyn suffered. Until the day I emailed his college about the problems she was having, asking, begging for anyone to give us a second opinion, and what do you know he called me ten minutes later. He promised he would come up with a plan, and said he thought she needed pain management as everything surgical was stable. After a week of hearing nothing, I emailed him one last time. Asking him to open the back of her head and check for a leak, if there wasn’t one, I would concede to pain management. His office called the next day to set up surgery.

We returned to NYC on December 10th for surgery on the 11th. He told me surgery should be less than two hours as he didn’t believe he would find anything. He came out to the waiting room five hours later. He took me outside the waiting room and explain to me that when he opened the back of her head, he found many holes in her dura that were causing a leak. He explained that he went further up on her head and harvested her own tissue and sealed the dura again. He told me that he believed this would secure the dura and we would never have a leak again. He said that the plastic surgeon was closing her up, and I should see her in about an hour. He assured us that he would be up the next day to talk further. What a punch in the gut. Emmalyn woke from surgery in so much pain, but the wonderful PICU team that knew her so well jumped into action. A lot of these nurses have at this point gone from just nurses to being like family to us. Our stay after this surgery was rough, she was hospitalized for ten days and couldn’t be upright longer than forty-five minutes without morphine. Her leaks were sealed, but with two shunts over-draining, her low-pressure pain was beyond belief. Only morphine by pump or IV were helping her pain, but they wanted her off of the morphine and on oxycodone before they’d release her. Her neurosurgeon was in everyday checking on her. Emmalyn’s only request was to be home for Christmas. We were eventually able to get her switched to Oxy and they said she could fly home on the 21st of December. He didn’t want to remove the shunts just yet as he wanted to keep all CSF off the back of her head so the patch would seal. We would return at the end of January to address the shunt issue.

Emmalyn came home for Christmas and spent it lying down, as the pain was at its worst when she was upright. She spent the next month that way until we returned at the end of January to return for surgery to have the lumbar shunt removed on January 31st, 2018. After it was removed her pain was still bad when upright, so her surgeon decided to go back into surgery to externalize her VP shunt and clamp it off to see if things improved, and they did somewhat. So, the decision was made to take her back into the OR again to remove her VP shunt. After three surgeries in ten days, Emmalyn came out with no shunts at all!

We returned home and as always headaches and leg pain had continued. We returned to NYC for post-op and imaging at the beginning of March. All imaging was done, and no leaks were found in the back of the head, but they noticed a “kink” in her brainstem and that her two syrinxes continued to be large. Her neurosurgeon believed everything was stable in her brain, even though the thoughts of CCI were still there. He began to focus on her spine. He sent her for a prone MRI (where she was laying on her stomach), and her surgeon said that she did not look tethered, and we were put back in the “wait and see” category.

Due to insurance reasons, we were unable to see our neurosurgeon for a while, so we were sent back to our original neurosurgeon. After consulting with her she sent us to a new neurosurgeon in her office that specialized in CCI. After doing a flexion MRI, CT, and additional testing the decision was made that Emmalyn needed fusion. She went in on June 20, 2018, for fusion surgery from 0 to C4. Recovery was very rough and wearing the collar wasn’t much better. After her fusion surgery, her headaches seemed to get better, but her leg pain was at an all-time high.

Our insurance issues were resolved and our neurosurgeon that did her fusion thought it best that we return to our neurosurgeon in NYC because he knew her case best. So, we returned in September for more imaging and the next steps. In the process, Emmalyn’s scar on her side where her lumbar shunt was placed was very painful and very large. We consulted with our plastic surgeon and he decided that the scar needed to be revised along with the one on the back of her head, revision surgery was decided to be done on October 2. After our neurosurgeon in NYC reviewed her brain and spine imaging, her thoracic syrinx was still very large, he came up with the plan to go in and check for a tethered cord. He really believed she was not tethered, and he stated if she wasn’t then they would consider shunting her syrinx at a later date. On October 2nd Emmalyn was taken back into surgery for scar revision and exploration of tethered cord. After being in the OR for forty-five minutes our neurosurgeon came out into the waiting room to talk to me. After shaving the back of her head for the scar revision they saw that the screws from her fusion were ready to come through the back of her head. He said he brought his fusion surgeon in and he decided they would probably have to remove the top part of her fusion. I agreed to do what needed to be done to fix the situation. After four hours of surgery, he came out and explained that the side scar had been revised, and after exploring for a tethered cord, he considered her “a complex tethered cord,” and he untethered everything. He then explained that they were keeping her intubated overnight so they could do a CT to make sure she was fully fused before removing the top part of her fusion. Seeing her intubated was one of the hardest things in my life. She woke up once and was so scared and tried to talk. We explained what was happening and she went back to sleep. They did the CT overnight and made the decision she was fused and removed her top fusion the next morning. She came out with no collar and was told she did not have to wear one. We were sent home two weeks later.

The weekend after we returned home Emmalyn started complaining of a bad headache and stated that she heard a cracking noise in her head, and her head felt wobbly. I immediately emailed the two neurosurgeons. The plan was to get a CT on Monday. We found out the donor bone in her fusion had broken. The plan was to put her back in the cervical collar for it to heal. In just a few days of being in the cervical collar, the headaches were horrible, and her incision opened and looked infected. After talking with the neurosurgeons and talking with Emmalyn it was decided to return to NYC to have the top part of her fusion back in. On November 5th she went back in the OR once again to have the top part of the fusion put back in place. It was then that we learned just how extensive the infection had been, and our nightmare battling it began. After fusion surgery, she was placed back in the collar and the plastic surgeon that closed her stated that part of her incision had a blackness to it and needed to be revised and would have to be back in the OR in two weeks for revision. After the revision the infection returned. They put her on antibiotics and sent us home right before Christmas, after eight weeks in the city. Emmalyn’s headaches continued and did not get better, but the incision started to look better. Her round of antibiotics ended, and her incision opened again, so I sent pictures to her plastic surgeon and he wanted us back to NYC as soon as possible. We returned on January 2nd, 2019. We saw plastic surgery, infectious disease, and neurosurgery. Infectious disease was concerned that her hardware was infected, but neurosurgery said it wasn’t. After three weeks in the city, it was decided to take her into the OR and take the infected part off and see how deep it went. It was determined to be superficial, but they decided to keep her on the antibiotics. Her headaches continued to be bad, so the decision was made to keep her in NYC for the next month to monitor her. Her incision healed well on the antibiotics, so they discontinued the antibiotics. On February 27th she was taken into the OR for another ICP bolt, to check to see if high pressure returned. When upright her pressures were at 0 to -5 and laying down, they went as high as 8. Our neurosurgeon let us know that her pressures were normal, and a shunt would not help. After the surgery was done and we were discharged her incision opened, yet again. We went for her post-op visit with the neurosurgeon and he took one look and said her hardware had to be infected and needed to be removed. After speaking with her fusion surgeon, he stated there was no way we should be removing the hardware so soon, as she was not fused. So, they decided to take her in the OR and do a complete washout and cultures and put her on antibiotics indefinitely until the hardware could be removed. On March 11th she was taken into the OR once again and had a complete wash out with antibiotics. After the cultures returned with no answers, her infectious disease doctor put her on Cefadroxil 500mg twice daily until the hardware could be safely removed. After three months in the city, we finally returned home.

Emmalyn’s headaches continued as always. It had been her way of life for seven years. Now the new symptom of nausea started and never left. We returned in May to have her hardware removed. After it was removed her upright headaches came back strong, but her incision healed perfectly. We were there for another six weeks after surgery to be monitored and because of the low-pressure headaches that I knew all too well. I asked our neurosurgeon for a CT myelogram and he refused, saying he “still believed she had instability issues and there was definitely not a leak.” After going back and forth with him for a long time he refused to listen. I decided it was time for a second opinion. I reached out to another specialist and he had many questions and agreed to see her. I let her neurosurgeon know that because all he was willing to do is have her see pain management, we were headed for a second opinion. We left NYC and didn’t look back.

Her new neurosurgeon in California was very thorough in her initial appointment and understood how much she had been through and he wasn’t going to do any intervention unless it was needed. He did a flexion MRI that showed she was fused, so instability was not the problem. He started by putting her on a medication to raise the pressures in her head, which helped some, but the headaches were still bad when upright or active. We returned home while he pulled a team together for further testing. We returned to California in September, where we met with a pain team and physical therapy. It was decided she needed a CT Myelogram as they were convinced there was a leak somewhere. After the Myelogram, we met with her neurosurgeon and it was determined Emmalyn had a leak at L1 in her lumbar spine. He recommended an epidural blood patch to repair the leak. We received a call from the pain team that the leak specialist agreed. We returned to sunny California on October 8, 2019, for her blood patch on October 9, 2019. On October 9th Emmalyn went into the OR for her blood patch. She had two blood patches placed due to the presence of scar tissue at her L1 and L2 from her tethered cord surgery. They placed one there but also did a second patch coming up from her tailbone to make sure that it would seal. She struggled for a few days in the hospital with rebound high-pressure, so her neurosurgeon put her on Diamox until we could figure out her new normal.

After Emmalyn’s lumbar blood patch on October 9th, she had five days with no pain, and the low-pressure headaches (headaches when upright) returned. (Epidural Blood Patches are much less invasive than a surgical dural repair, but they often take multiple attempts to try and seal the leak.) We went home and Emmalyn continued to suffer until we returned on November 20th for a second lumbar blood patch. Her second blood patching offered no relief at all. After being in California for a week we were sent home again to see if it got better over time. They didn’t and Emmalyn started to get discouraged (which is unlike her). After talking with the doctors, the decision was made to return to California on December 10th for a third lumbar blood patch. The third patch offered her one day of relief before her horrible headaches returned. It seems like after every blood patch the headaches would come back worse. After the third blood patch failed the leak specialist decided it was time to try fibrin glue patch as the blood wasn’t sealing. We returned to California on January 14th (causing us to miss her brother’s 13th birthday, which was a hard one for us both, but he understood the urgency to get his sister better). On January 15th Emmalyn was admitted for her fibrin glue patch in the lumbar spine. Unfortunately, it didn’t help, and her headaches came back right away. Feeling pretty defeated the doctors decided to try a patch in her cervical spine as she is known for leaks in that area. We returned home for a month and returned to California on February 4th for a cervical blood patch. She was admitted on February 5th for the patch and the next day was her 11th birthday. She developed a high fever and cough. It was a scary time as they didn’t know what was happening. They ended up admitting her to the hospital and started running tests. The fever kept coming back and it ended up after three days in the hospital she was found to have bronchitis. The fever went away and on the third day she was able to get up and her headache was gone. She was discharged and after two days her headache returned. The bad part about all these blood patches is afterward the patient must lay flat for seventy-two hours as to not blow the patch. It is a difficult process but when it works it is amazing and it’s disheartening hoping for relief each time, only to see her still in pain.

After the fifth patch, the doctors had serious discussions about what was next. Emmalyn’s headaches when upright were worse than they have ever been. After a lot of discussions, it was decided for Emmalyn to return to California on April 1st for another CT Myelogram (to check for remaining spinal leaks) with a Lumbar Puncture (to check her opening pressures), and surgical repair if necessary. The onslaught of COVID-19 hit. With so much unknown, we decided it would be safer to drive to California, rather than flying. Emmalyn and I rented a vehicle and hit the road on March 26th. We didn’t stop much and tried to do two states a day. The ride was a hard one on Emmalyn and the headaches were horrible, but we arrived in California on March 28th. Her Lumbar Puncture revealed that her opening pressure was twenty-four, which is a little on the high side, and not low like they expected. To make it even more confusing, the CT myelogram revealed a small leak still in the lumbar spine. The decision was made to do an EVD drain to drain CSF and recheck her pressures, to address the high-pressure issue first. On April 1st she was admitted for an EVD drain placement for seventy-two hours. She was put in the PICU (Pediatrics Intensive Care Unit) and at first, things weren’t improving at all. They dialed up the drain and as it was draining her headache began to improve by the last day her headache was at a two-out-of-ten, something we haven’t seen in an awfully long time. It was so great to see a genuine smile on Emmalyn. They removed the drain on Saturday afternoon, and she was discharged to the Ronald McDonald House, where we were staying. By Monday, her upright head pain returned with a vengeance. The decision was made to place a VP (ventriculoperitoneal) shunt with a Certas Programmable (adjustable) Valve.

Surgery on April 8th went as planned and Emmalyn’s headaches were all over the place. She ended up being admitted to the hospital for eight days. After a few adjustments, they set her valve to a six and discharged her back to the Ronald McDonald House. Unfortunately, Emmalyn’s upright headaches were still horrible. It was time to bring the leak specialist back into the picture. After many conversations, it was decided to do a Cisternogram, a CT test with nuclear medicine to find a leak. They had to prepare for the test so it couldn’t be done until May 5th. This time, we stayed in California, where she’d be close enough for valve adjustments as needed, and due to the pandemic, we didn’t know what travel restrictions would be implemented. Two more weeks of bad headaches.

Emmalyn went in for her Cisternogram with a Lumbar Puncture to check her opening pressure (which was normal… so the high-pressure was no longer a factor due to the shunt). The Cisternogram is generally a forty-eight-hour series of tests – beginning with an initial CT, another three hours later, another after six hours, then twenty-four-hours, and finally one at forty-eight-hours to check everywhere for a leak. Emmalyn did great and after the twenty-four-hour test, they said they didn’t need to do the next one. After a round-table discussion of doctors regarding the results of the test, it showed that Emmalyn had a leak at L4-5, and this time, they wanted to surgically repair it. On May 13th we went in for Emmalyn’s 38th surgery. Due to her constant leg pain, they also decided to do an ultrasound of her spine while in there to check her Tethered Cord area. She went in for surgery and four-and-a-half hours later the surgeon was out to speak with me. He found the leak and was able to repair it and upon the ultrasound of the spine, found that her spinal cord was complexly tethered again, stating “it was in a ball and he had to untether it.” He let me know that her EDS is severe and that her scar tissue is massive, so he went back in to try and repair all that he could.

Emmalyn was unable to walk after this surgery. That was something that I, as her mom, wasn’t emotionally prepared for, and she wasn’t either. We were prepared for the pain, as she has been through that many times, but on day three after surgery, it was time for her to get up and walk and couldn’t. With all that Emmalyn has been through, never has not been able to walk afterward. This time when her physical therapist got her up to walk, her legs would just give out on her. It was so hard and scary for her and me both. She would cry in frustration and pain, as her headache was still there and remaining at a ten-out-of-ten, around the clock. Her back was hurting worse than her head and now, she couldn’t walk. After a week in the hospital, she was able to walk with a walker, her back pain was still horrible and her headaches still present, so her surgeon decided another MRI was needed. She was taken for her MRI on Wednesday evening, and after a few hours, the neurosurgeon resident came to talk to us. He let us know that either there was a leak or a seroma was present by her lumbar spine and they would have to take her back into surgery the next morning. Emmalyn yelled at the resident and told him, “No, none of this is making me better it is making me worse.” He was patient and kind and told her if we didn’t do surgery it would continue to get worse yet. With Emmalyn’s blessing, I signed the consent and they took her back into surgery the next morning. After three hours they came out and told me it was a seroma and it was taken care of. By the next day, Emmalyn was ready to get up and her back was feeling somewhat better, but she couldn’t walk again. At this point, we didn’t know how long she would need the walker. We were in the hospital for another five days and over the course, she improved walking with a walker and her back pain subsided, but her headache was back all the time, and laying down wasn’t taking it away. We stayed in California until June 9th, where at this time Emmalyn was back walking on her own, another MRI was performed to check the seroma and it had fully dissipated, but her headaches were still 10/10 and even Dilaudid didn’t help. It was decided it was time to go home and give her a break from surgeries and time to heal, so Emmalyn and I hit the road. We decided to take a long route home to see friends and the Grand Canyon. (Since this has been such a long battle for all of us, I try to find ways to break the monotony of it all whenever I can if she’s up to it.) On day three of the drive (after seeing the Canyon), we stopped to rest and visit a friend, but Emmalyn was in so much pain, she was in tears and said she couldn’t continue with the drive. We had a carload of stuff, so the decision was made to pack everything in boxes and ship them, buy plane tickets out of Denver and fly home. Flights for Emmalyn are horrible, the pressure makes her headaches so much worse.

We were home for a month with no relief and returned to California on July 6th for a follow-up. It was decided to do a flexion/extension MRI to check her cervical cranial junction and to check where the cerebellum had become adhered to the brain stem. After the MRI, her neurosurgeon called and let me know it was time to surgically go back into the back of her head. He said that her cerebellum was slumping too low into the skull causing traction to the brainstem, also her 4th ventricle was severely dilated, and would likely need to be stented, but it would take a couple of weeks before it could be scheduled. We flew home on July 14th and returned to California on July 27th for what we’re hoping to be her final surgery.

We are now back in California, getting ready for Emmalyn’s fortieth surgery. The surgery is on July 31st, exactly one day after her very first surgery eight years ago. At preop, her surgeon was extremely optimistic that this surgery will help her to feel better and hopefully let her have a more normal life. The surgery is expected to be five-eight hours long as some of this is unknown territory and decisions will have to be made once she’s opened for surgery, as an MRI only tells the surgeon so much. I have every faith in her surgeon that he will do what needs to be done to get Emmalyn better.

The road with EDS, Chiari Malformation, CSF leaks, Tethered Cord Syndrome, Craniocervical Instability, and all the comorbids she’s faced, is such a long road for anyone that has it, but don’t give up, because the right surgeon or doctor will come along and hopefully be able to help make it better! Emmalyn’s story has been long and hard, and more than any little girl should have to endure. It’s impossible to go through forty surgeries in the eight years of her now eleven-year life and have a short story to tell. She’s stronger than any child should have to be and despite all the pain, she tries to maintain a cheerful disposition that brightens everyone’s day. Emmalyn wanted to share her story in hopes that it might help other children in their fight. We hope that her story will help other families understand the importance of advocating for their child, even if it means getting second/third opinions! Don’t believe everything your doctors say, research it for yourselves and push to get the medical care that your child deserves. If a surgeon is willing to do surgery but is unwilling to run tests, walk away, and get another opinion! Ask your child what they’re feeling and when they’re feeling it, as well as any changes that might be helping to relieve the pain (even if the relief is slight) because those are important details; and believe what they tell you even if you’re the only one that believes them. And beyond everything else, don’t give up and don’t give in! Fight it like you’re fighting for your child’s life because that is exactly what you’re doing – that is the fight!

*Originally published 10/2019, updated -7/2020.

Published: 27 January 2020

Written by sug_97

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Categories: A Chiari Warrior's Journey, Testimonials

“But you look so good” is what people usually say when they find out that I struggle with debilitating chronic illnesses. It is true- I wear fashionable clothes, I do my hair, I put on makeup and I have a smile on my face. Underneath it all though, is someone who is trying to live her best life with the cards she was dealt with. I grew up in southern India and none of my family members knew what Chiari malformation was. It wasn’t until I came to the United States, had a baby and hit a complete rock bottom that I found out that a condition called Chiari even existed.

The journey to diagnosis was much like putting together a jigsaw puzzle especially when my medical providers did not take me seriously. The pain came first-it started in my fingers, head, neck, knees and gradually, over the course of two years became fairly debilitating. I was initially misdiagnosed with Rheumatoid arthritis since I have a family history with it. I was on sulfasalazine, prednisone, and hydroxychloroquine for over a year. While the prednisone helped with the pain, the combo of drugs just made me sicker and sicker. I went down to 95lbs and got extremely depressed. It was easy for everyone to simply say that I was homesick and that my pain was imagined. Yes, I was depressed but not due to homesickness. It was legitimate and severe pain that existed but could not be seen or measured by a test. I was sent to a psychologist and then to a psychiatrist. I was just “the immigrant who was dealing with immigrant-related depression and anxiety.” When multiple medical providers went with that same narrative, I started questioning if it was all indeed in my mind and psychosomatic. I was starting to accept that living like that was going to be my new normal. I was training with my figure skating coach to be able to make to adult nationals. Skating gave me joy because it was an artistic sport that I could distract myself with. But eventually, the pain took that joy away from me.

During this time, I became increasingly bitter and angry with everyone around me including my family members. I felt alone and invalidated over and over. In hindsight, I can understand why it was hard for my family to believe my pain too. No one knew about the monster that was causing it. Things got even weirder when I was pregnant- my body reacted negatively to pregnancy. I had gestational diabetes, polyhydramnios and mysteriously, two rib fractures that perplexed everyone. I was induced at 39 weeks with a labor that lasted over 30 hours and ended with fourth-degree external and internal tears. While my rib fractures and severe tears were a red flag, they were apparently not a red flag enough to warrant a deeper look at what was going on. It was still easier to stick to the hysterical, angry woman of color/ immigrant narrative. The physical scars from my fractures and tears healed and the emotional scars were temporarily masked by the joy of my new baby girl. Days turned into weeks into years and pain was my normal. Having no pain was a red flag at that point.

Slowly, my esophagus deteriorated, and my lower esophageal sphincter completely gave away. My nasal septum deteriorated somehow, I developed a near-constant tremor. People were starting to see some outward signs of what I had been complaining about for years. After a motor vehicle accident, my symptoms took a drastic turn for the worse. I had to fight with my primary care doctor to get an MRI. It took me 7 years at this point to learn that if I did not fight for myself, then no one would. And I wanted my baby girl to have a mom around.

From the diagnosis of Chiari 1.5 to surgery was about 3 weeks. I liked my surgeon and the care team, so I was comfortable with the surgery. Recovery was long and painful though. I had meningitis twice after the surgery, developed chronic migraines in addition to trigeminal and occipital neuralgia. The diagnosis of central sleep apnea, MCAS and EDS came a year later. My brain stem was traumatized massively. I had to go to vestibular physical rehabilitation therapy to fully walk independently again. A year after my Chiari decompression, I had the Nissen Fundoplication to fix my esophagus. Four years past surgery, I am still recovering and learning how to manage my conditions. My care team now consists of – Anesthesiologist, Physiatrist, Neurologist, Pulmonologist, Gastroenterologist, ENT doctor, Massage Therapists, and Mental Health Counselors in addition to my close family. A huge part of learning how to manage these conditions has been figuring out what my physical limitations are and listening to my body cues. It has taken a long time to learn that it is ok to say no and that it is ok to have a LOT of mental energy but have little to no capacity to do things physically. I gave up figure skating because that kind of physical activity was causing me extreme pain. I get intense urges to skate every now and then which I give into occasionally but as the years have gone by, I am much better at gauging the pain and deciding not to do it. Loud sounds and bright lights trigger a lot of pain now, so I am better about avoiding places that I know are noisy and overwhelming. I have found peace in hiking through the wonderful trails of the pacific northwest. I have cut down on social commitments to prioritize my health over anything else. Some weekends, I do nothing except sleep all day… I have had to learn that that is OK. My husband has been a huge support and my pillar to lean on for the 11 years that we have been married. If I am tempted to do something against my better judgment, he reminds me to know my limitations. I have made peace with the fact that some people might find it impossible to hard to understand what living with Chiari and the comorbid conditions is like and that I cannot control how other people see it. My job has been a stable and joyful part of my life, but it took me a long time to accept that too since my original goal was to go to medical school. I realized my personal limitation about not being able to make it through medical residency. I want to let everyone know that there is hope at the other end of the tunnel… even though it is not in the form of a cure.

Published: 8 December 2019

Written by sug_97

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Categories: Empty Sella Syndrome, Hydrocephalus, Idiopathic Intracranial Hypertension, Intracranial Hypertension, Intracranial Hypotension

INTRACRANIAL HYPERTENSION (IH) MEANS HIGH PRESSURE INSIDE THE SKULL.

Intracranial Pressure (ICP) is measured in millimeters of mercury (mmHg). Most scholars agree that on average, “normal pressure” should be between 5-15 mmHg, mild to moderate intracranial hypertension between 20-30 mmHg (which “requires treatment in most circumstances”), and an ICP of > 40 mmHg indicates “severe and possibly life-threatening intracranial hypertension.” ^[1] When high intracranial pressure is left untreated, it creates a “pushing effect” towards the only natural escape at the base of the skull (the foramen magnum), and the cerebellar tonsils in the pathway are pushed through the foramen magnum. ^[2]

Understanding the Monro-Kellie Doctrine (pressure-volume relationship)
The association between IH/IIH and Chiari Malformation appears to be a malicious intricate pathological circle. The cranium (skull) consists of brain matter, cerebrospinal fluid, and both venous and arterial blood. A hypothesis, referred to as the Monro-Kellie Hypothesis (now better known as the Monro-Kellie Doctrine), states, “The sum of volumes of the brain, CSF, and intracranial blood is constant. An increase in one should cause a decrease in one or both of the remaining two.” Therefore, if an abundance of cerebrospinal fluid (IIH or hydrocephalus), both cranial blood volume and brain matter should be forced to deplete. This depletion is usually directed in the path of least resistance – through the foramen magnum and into the spinal canal. When the brain matter closest to the bottom of the skull (cerebellar tonsils) is pushed through the foramen magnum and into the spinal canal (an Acquired Chiari Malformation), the tonsils act like a cork and blocks the flow of cerebrospinal fluid (regardless of the size of the tonsillar descent), which in turn, continues to raise intracranial pressure.^[3]

More Symptoms of Intracranial Hypertension

Venous Hypertension
When an etiological cofactor exists (such as a space-occupying mass), it is considered Secondary Intracranial Hypertension (SIH); when no other cause was identified, it is known as Idiopathic Intracranial Hypertension (IIH) formerly known as Pseudotumor Cerebri. However, recent studies on the connection between Intracranial Hypertension and Venous Hypertension might put an end to the “idiopathic” theory.

Oxygen-rich blood travels from the heart to the rest of the body through the arterial system, then the oxygen-depleted blood returns to the heart through the venous system. We have a host of small veins in our head and they dump into a series of large veins, called sinuses. Dural Venous Sinus Stenosis occurs when there is a narrowing of one or more of the venous sinuses (most commonly seen in the transverse sinuses or transverse/sigmoid sinus junction), which in turn compromises cerebral venous outflow through the jugular vein (stenosis/compression of the jugular vein can also result in elevated intracranial pressure ^[4]). Transverse Sinus Stenosis (TSS) is most common in Idiopathic Intracranial Hypertension (IIH). Depending on the study that you are reading, it is proving to be present in 90-100% of IIH patients ^[5]. While its connection might sound obscure if you look at it from a Monro-Kellie perspective – The blood going into the head, cannot get out at the same speed (because of the narrowed sinus). When this inflow of blood remains constant and the outflow is hindered, the transverse sinus on that side (we have two transverse sinuses, one on each side) enlarges, forcing the CSF and brain matter to reduce to maintain the volume equilibrium. This reciprocation can happen when any of the sinuses or jugular narrow (stenosis). While scholars continue to debate whether TSS is a cause or consequence of IIH, surgeons continue to decompress us without checking our pressures or decompress (the most invasive treatment) in hopes that it will lower our pressures, and patients are left with untreated high pressure still causing a “pushing down effect” and an enlarged foramen magnum for our brains to be pushed down. ^[2] The sagging brain once again obstructs the flow of cerebrospinal fluid by plugging the foramen magnum, and that in turn raises the intracranial pressure even more. Or, the untreated high pressure blows through the duraplasty and causes a post-operative leak, known as a pseudomeningocele.

Reducing the Risks of Post-Op IH/IIH Complications
Brain MRIs often show indicators of Intracranial Hypertension (IH/IIH), therefore, we recommend that all Chiari patients have full brain MRIs and not just cervical MRIs.

• When the pressure builds inside of the dura mater the pressure pushes the dura and fluid inside of the crevice that holds the pituitary gland (the sella turcica or pituitary fossa). When the amount of fluid is equal to or greater than 50% and the pituitary gland size is 2mm, the condition is known as Empty Sella Syndrome. (Doctors now recognize that < 50% (where the pituitary gland size is 3-7mm) can also cause symptoms and they now refer to that as a partially empty sella.) ^[8]

• Slit like or flattened lateral ventricles from the increased pressure, however, when the Foramen of Monro (the aqueduct that connects the lateral ventricle to the third ventricle) is stenosed, the fluid will back-up and the lateral ventricle will not appear flattened. ^[7]

• Enlarged/swollen optical nerves (papilledema). ^[8]

• Low lying or herniated tonsils (often diagnosed as a Chiari Malformation). ^[2]

What We Recommend BEFORE DECOMPRESSION is considered:
If you have symptoms of IH/IIH accompanied by any of the MRI indicators mentioned above, it is both reasonable and prudent to ask your neurosurgeon to investigate further BEFORE DECOMPRESSION.

See a neuro-ophthalmologist to check for signs of papilledema, including Optical Coherence Tomography and Ultrasonographic B-scanning. ^[8]
Magnetic Resonance Venography (MRV, preferably with the ATECO technique) to check for venous stenosis of any of the cranial sinuses and/or jugular vein. Stenosis is not exclusive to the transverse sinus and it can happen in multiple sinuses simultaneously.
If overweight, consider trying to lose weight. Studies show that a weight loss of 5-10% of one’s overall body weight, when accompanied by a low-salt diet, can offer some to IH/IIH symptoms.^[9^]
Consider trying Diamox (Acetazolamide) and/or Topamax (Topiramate) to see if that improves the pressure headaches.
Request a lumbar puncture (spinal tap) to test your opening pressures. We recommend that it’s guided with fluoroscopy with a small gauge needle (and not the standard 22 gauge) that they allow to drip (as opposed to syringe pull) and ensure that someone is available to perform an epidural blood patch if necessary. Time should be allotted afterward to lay flat for several hours immediately following the procedure and for several days once returning home. The potential for CSF leaks is high for the EDS/Chiari patient. A doctor that marginalizes the risks ahead of time, will generally marginalize your symptoms when you are actively leaking.
ICP Bolt Monitoring can record the differences experienced in pressure over time, and how different positions affect ICP.

Note: When the intracranial pressure gets high enough, it can cause a cranial leak. This is especially true for the Ehlers-Danlos patient where the dura mater is thin and fragile. When a cranial leak decreases the intracranial pressure, the papilledema, empty sella, stenosis, and high-pressure headaches can sometimes start to revert to normal or near-normal, and the leak will affect any attempts to check intracranial pressure (reducing the pressure from what it was before the leak occurred), however, the tonsillar herniation will usually remain if the pressure gets too low. ^[10]

TREATMENT OPTIONS:
If Venous Stenosis exists, stenting should be considered as leaving the sinus/jugular stenosed can post other health risks, and stenting is proving to have much better success with fewer complications requiring revisions. When medication fails to decrease ICP, and a stent is not an option, a Ventriculoperitoneal Shunt (VP Shunt) or Ventriculoatrial Shunt (VA Shunt) can be surgically placed to drain cerebrospinal fluid straight from the ventricle. Shunts are known for failing and often need a multitude of revisions, but even with all the revisions, it is less invasive than a decompression. Shunts under the foramen magnum should never be used as a means of controlling ICP.

For the IH/IIH patient, herniated tonsils should be assumed an Acquired Chiari Malformation (even if a small posterior fossa is evident), and by correcting the high pressure before decompression, the decompression will be less likely to fail.

Helpful Tips:
If you have IH/IIH, it is best to avoid caffeine, avoid progestin based birth control, and all EDS patients should try to avoid the use of fluoroquinolones such as ciprofloxacin (Cipro), levofloxacin (Levaquin/Quixin), gatifloxacin (Tequin), moxifloxacin (Avelox), ofloxacin (Ocuflox/Floxin/Floxacin), norfloxacin (Noroxin), due to the increased risk of aneurysm.

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References:

¹ Rangel-Castillo, Leonardo, et al. “Management of Intracranial Hypertension.” Rangel-Castilla, Leonardo et al. “Management of intracranial hypertension.” Neurologic clinics vol. 26,2 (2008): 521-41, x. doi:10.1016/j.ncl. Feb. 2008, <https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2452989/>.

² Aiken, A.H., et al. “Incidence of Cerebellar Tonsillar Ectopia in Idiopathic Intracranial Hypertension: A Mimic of the Chiari I Malformation.” American Journal of Neuroradiology; Nov. 2012, <http://www.ajnr.org/content/33/10/1901>.

³ Mokri, B. “The Monro-Kellie Hypothesis: Applications in CSF Volume Depletion.” Neurology., U.S. National Library of Medicine, 26 June 2001, <https://www.ncbi.nlm.nih.gov/pubmed/11425944>.

⁴ Zhou, D., et al. “Intracranial hypertension induced by internal jugular vein stenosis can be resolved by stenting.” European Journal of Neurology, November 2017 <https://onlinelibrary.wiley.com/doi/abs/10.1111/ene.13512>.

⁵ Henderson, Fraser C., et al. “Neurological and Spinal Manifestations of the Ehlers–Danlos Syndromes.” American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 21 Feb. 2017, <www.onlinelibrary.wiley.com/doi/10.1002/ajmg.c.31549/full>.

⁶ Pietrangelo, Ann. “Empty Sella Syndrome.” Healthline, Oct. 2017, <https://www.healthline.com/health/empty-sella-syndrome>.

⁷ Hingwala, Divyata R., et al. “Imaging signs in idiopathic intracranial hypertension: Are these signs seen in secondary intracranial hypertension too?.” Annals of Indian Academy of Neurology vol. 16,2: 229-33. doi:10.4103/0972-2327.112476, June 2013, <https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3724081/>.

⁸ Mollan, Susan P., et al. “A practical approach to, diagnosis, assessment and management of idiopathic intracranial hypertension.” Practical neurology vol. 14,6: 380-90. doi:10.1136/practneurol-2014-000821. May 2014, <https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4251443/>.

⁹ Thurtell, Matthew J., and Michael Wall. “Idiopathic Intracranial Hypertension (Pseudotumor Cerebri): Recognition, Treatment, and Ongoing Management.” Current Treatment Options in Neurology, U.S. National Library of Medicine, Feb. 2013, <https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3554852/>.

¹⁰ Pérez, Mario A., et al. “Primary spontaneous cerebrospinal fluid leaks and idiopathic intracranial hypertension.” Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society vol. 33,4: 330-7. doi:10.1097/WNO.0b013e318299c292, Dec. 2014, <https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4040082/>.

Published: 6 December 2019

Written by sug_97

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Categories: Comorbidities, Dysautonomia, Ehlers-Danlos Syndromes, Syringomyelia, Tethered Cord Syndrome

TETHERED CORD SYNDROME (TCS) INVOLVES A STRETCHING OF THE SPINAL CORD, AND OFTEN YOUR MEDULLA OBLONGATA
AS WELL, WHICH LEADS TO A HOST OF NEUROLOGICAL PROBLEMS.

Before we talk about Tethered Cord Syndrome, let’s first talk about the anatomy associated with the spinal column (in layman’s terms).

• The role of the vertebral column is to hold the spine strong (so it can be upright) and protect the spinal cord from injury. In a normal vertebral column, there are thirty-three vertebrae on each side (seven cervical vertebrae, twelve thoracics, five lumbar, five fused vertebrae in the sacrum and another four fused vertebrae in the coccyx).

• Each vertebra in the upper twenty-four vertebrae is separated by intravertebral discs largely composed of the fibrous protein, collagen. The main role of these discs is to allow the vertebral column to move and flex.

• The role of the spinal canal is to hold cerebrospinal fluid around the spinal cord, which not only cushions the cord against injury, but it also lubricates the cord, cleanses the cord, and brings essential nutrients that the spinal cord needs. The spinal canal is made up of several layers that form the meninges. These layers are also composed of high concentrations of collagen. The outermost layer of the meninges is the dura mater. The dura mater should be dense and strong, so cerebrospinal fluid cannot leak from it.

• The spinal cord relays messages from the brain to the nerves that allow the body to function. When part of the spinal cord is compromised, it can inhibit signals from getting to the nerves from that point downward. The brainstem (midbrain, pons, and medulla oblongata) is attached to the spinal cord at the top (the medulla and spinal cord meet at what is called the cervicomedullary junction) and the spinal cord continues down to the mid/lower back. From there it becomes a delicate elastic band of fibrous collagen-based tissue called the filum terminale that extends from the conus medullaris (the lowest point of the spinal cord before it becomes the filum terminale) to the dural sac at the S2 level.¹

Chiari Malformation has many conditions that can be associated with it (comorbid conditions) and sometimes those comorbid conditions can be at the root cause (etiological cofactor) or one of the causes along the way (pathological cofactor) to the tonsils being as low as they are (making the Chiari “secondary” to one or more “other” conditions). Tethered Cord Syndrome (TCS) is one of those pathological conditions.² Like Chiari, it is a neurological disorder; however, it is one of the spinal cord.³

Tethered Cord happens when the sticky fibrous tissue of the filum adheres to fatty/scar tissue or the dura lining of the spinal canal.¹ While this tethering can happen anywhere in the spinal canal, it is most common at the lumbosacral level.⁴ When the tethered filum pulls the spinal cord tightly enough that it causes neurological problems, it becomes known as Tethered Cord Syndrome (TCS). Tethered Cord is most common in patients with Spina Bifida (myelomeningocele, meningocele), Spina Bifida Occulta (lipomeningomyelocele, lipomyelocele) and patients with Ehlers-Danlos Syndromes (EDS), a Hereditary Disorder of Connective Tissue (HDCT) where one or more of the types of collagen (the most abundant protein in the human body) is mutated at a cellular level. Tethered cord can be congenital or acquired. It can be obvious in childhood or symptoms may not present themselves until adulthood. Some children may develop minor signs that are overlooked by untrained medical professionals and can progress slowly or rapidly over time.

A Tethered Cord Syndrome diagnosis can be somewhat of a challenge. The signs and symptoms of the condition are not always present and when they are, they are often not recognized, so it is important to know all indicators. People with Tethered Cord (TC) can have sacral dimples, discoloration, and hairy patches on their lower back that can lead a doctor to investigate further, however, some have no external signs at all. Some have kyphosis (rounded back) and scoliosis (curved spine). Sometimes radiological criteria are not met or are ambiguous, yet an Occult Tethered Cord (characterized by the presence of symptoms with normal conus position and inconclusive findings of the filum) can still exist.⁵ Symptoms can be elusive as well and can happen all at once or gradually over the course of many years. Many symptoms worsen due to activity; climbing stairs has been reported as causing pain that varies from uncomfortable to excruciating.

One of the reasons that Tethered Cord is often overlooked is that many neurosurgeons are not aware of the connection it can have with a Chiari Malformation and the medical tests used for determining if a tethered cord problem exists are not always accurate or accurately read.

Magnetic Resonance Imaging (MRI)

• A lumbar MRI is usually the first step. This gives a visualization of the spinal cord in relation to the surrounding vertebrae. The actual tethering is not always obvious on MRI, sometimes the only proof of the tethering is the pulling it creates on the spinal cord. Doctors will look for the position of the conus medullaris when looking for signs that the spinal cord is being pulled. The consensus amongst most surgeons is that a normal conus should be located from the T12 to the lower L2. There is much debate on the importance of establishing evidence of a low-lying conus.⁵When conus reaches the lower L2 or below, doctors should be investigating why it’s low and consider if the cord might be tethered. When looking for the location of the conus, your position can make all the difference. MRIs are generally performed supine (lying down) and the cord is not pulled as tightly as it is when upright. For this reason, upright MRIs are becoming the method of imaging preferred by most neurosurgeons looking to confirm or deny if tethering exists in a patient showing symptoms. Other signs of tethering that might be visible in a lumbar MRI include an enlarged foramen magnum, thick or fatty filum, presence of fatty tissue inside the canal, or the filum might be pulling to one side of the canal.⁵

• A prone MRI of the lumbar region can be an invaluable tool for those where other MRIs indicate that the filum might be pulling to one side (usually the back side) of the canal. With prone MRIs, imaging is done while the patient is lying face down (as opposed to facing up, like most supine MRIs). If the anteroposterior conus movement of >10% of the canal width was evident from the supine to the prone, then the likelihood of it pulling to one side do to tethering is less likely and more conservative management might be better appropriate than a surgical release.⁶

• A cervical MRI can also show signs that a tethered cord might exist. The cervical spinal cord can sometimes appear narrow from it being pulled tight. The medulla oblongata can become elongated. This happens because the brainstem is attached to the top of the spinal cord and that cord is being pulled tight, essentially pulling everything down and tight. This elongation of the medulla from the tethering can cause secondary symptoms by itself, known as Dysautonomia.

· Low/herniated cerebellar tonsils consistent with what is seen in a Chiari Malformation. When the brainstem is herniated (where part/most of the medulla is below the foramen magnum) along with the cerebellar tonsils, it is considered a Chiari 1.5 (which should be a good indicator that you might be dealing with an Acquired Chiari Malformation, where the herniated tonsils are secondary to another condition). One study quoted that out of 2,987 patients with a tonsillar herniation of 5mm or greater, 14% met the diagnostic criteria (based on “generally accepted clinical and radiographic criteria”) and 63% of the 289 patients with tonsillar herniations of < 5mm.⁵

· A syrinx is common with Tethered Cord, as it causes a blockage of fluid at the foramen magnum. A syrinx can develop anywhere in the spine, usually in the lower cord, but with Tethered Cord Syndrome it can develop in the lower medulla (Syringobulbia) as well because of the low brainstem is at the point of the blockage of fluid from the Chiari Malformation.

Even with an upright MRI and every symptom listed, patients are often told they do not have Tethered Cord. This is simply due to a lack of education on the subject and medical bias between doctors. It is important to make sure that you have the images viewed by a neurosurgeon that is familiar not only with Tethered Cord but Chiari and Comorbids as well. (Nearly half of the large study quoted above were referred following a failed Chiari Decompression.⁵) The combination of the images and the patient’s symptoms should tell the neurosurgeon if surgical intervention is required. Patients often require several consultations before they can find a knowledgeable enough physician.

What We Recommend BEFORE DECOMPRESSION is considered:
If you have symptoms of TCS, especially if accompanied by any of the MRI indicators mentioned above, it is both reasonable and prudent to ask your neurosurgeon to investigate further before decompression is considered. A Tethered Cord Release Surgery prior to decompression may relieve the tension that is pulling the brainstem and cerebral tonsils downwards reducing the risk of a failed decompression. There is a chance with small tonsillar herniations that the Tethered Cord Release might allow the cerebellar tonsils to rise enough to the point that cerebrospinal fluid flow is reestablished to where decompression is no longer needed. However, failure to release a tethered cord prior to decompression surgery increases the likelihood of a failed decompression. (In fact, in the study quoted above, out of the 3,276 patients with herniated tonsils, 46% of them were referred for evaluation after a failed decompression surgery.⁵) An MRI of all three levels of the spine should be done to rule out other possible causes for leg/back symptoms along with urodynamic testing, an Electromyogram (EMG) Test and Nerve Conduction Study (NCS) of the lower limbs is also suggested.

TREATMENT OPTIONS:
For some, physical therapy can help with symptoms for a while. However, ultimately it will likely need to be surgically treated with a Tethered Cord Release.

Tethered Cord Release (TCR) Surgery involves the untethering of the spinal cord. An incision is made in the lumbar area, the filum terminale is separated and the factors that are tethering the spinal cord to the vertebrae are severed. Surgical treatment is not without risk and does not guarantee relief of symptoms. However, in a large study, up to 83% of adult patients report relief, 16% unchanged, and 1% report feeling worse.⁵ In children, the numbers are even better with 93% obtaining improved symptoms and 7% unchanged.⁵ Most patients describe the surgery as extremely painful for the first two weeks and “better than they ever remember feeling” (often because they have been tethered for much of their lives) after two weeks. The most common complication involves retethering (often from the scar tissue from the release) and multiple surgeries may be required over a lifetime. Finding a neurosurgeon experienced with TCRs and the surgical treatment of Ehlers-Danlos patients can sometimes help reduce the risks associated with scar tissue formation, but scar tissue can happen with even the best of neurosurgeons.

For the TCS patient, herniated tonsils really should be assumed an Acquired Chiari Malformation (even if a small posterior fossa is evident), and by correcting the tethered cord before decompression the decompression will be less likely to fail.

Special Note: There are other conditions that can present with similar symptoms. Diastasis Recti is a type of abdominal hernia common to pregnant women, those with obesity, and EDS patients. This separation in the abdominal muscles is known to sometimes cause lower back pain and many of the same pelvic floor problems seen with Tethered Cord Syndrome (TCS). Unlike TCS however, it does not usually require surgical treatment. If you suspect Diastasis Recti, we recommend that you talk to your Primary Care Physician about referring you to physical therapy to bring your abdominal muscles back together before considering Tethered Cord Release (TCR).⁷

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References:

¹ Henderson, Fraser C., et al. “Neurological and Spinal Manifestations of the Ehlers–Danlos Syndromes.” American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 21 Feb. 2017, <www.onlinelibrary.wiley.com/doi/10.1002/ajmg.c.31549/full>.

² “Section of the Filum Terminale Surgery for Tethered Spinal Cord Syndrome in Patients with Chiari Malformation and Syringomyelia.” North Shore-Long Island Jewish Health System The Chiari Institute, Chiari Connection International, 02 Oct. 2006, <http://www.chiariconnectioninternational.com/docs/TCS_SFT_Explained.pdf>.

³ Quake. “Overview: Chiari Comorbidities & Etiological/Pathological Cofactors [Revised].” Chiari Bridges, 16 Nov. 2019, <http://chiaribridges.org/overview-chiari-comorbidities-etiological-pathological-cofactors/>.

⁴ Arslanoglu, A., et al. “Multidisciplinary Combined Approach for Tethered Spinal Cord Syndrome: Radiology, Surgery and Physical Therapy.” Balkan Military Medical Review, 2006, <https://pdfs.semanticscholar.org/8c30/18bf5bfbd6f3e7e5e9c3559bbbfdcac82e04.pdf>.

⁵ Milhorat, Thomas H., et al. “Association of Chiari malformation type I and tethered cord syndrome: preliminary results of sectioning filum terminale.” Surgical Neurology, Elsevier, July 2009. <https://www.sciencedirect.com/science/article/abs/pii/S0090301909002572>.

⁶ Aoun, Salah G., et al. “The Use of Prone Magnetic Resonance Imaging to Rule Out Tethered Cord in Patients With Structural Spine Anomalies: A Diagnostic Technical Note for Surgical Decision-making.” Cureus vol. 11,3 e4221. 11 Mar. 2019, doi:10.7759/cureus.4221. <https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6510567/>.

⁷ “A Complete Guide to Diastasis Recti: Truths on Abdominal Muscle Separation.” Braceability, 05 June, 2018. <https://www.braceability.com/blogs/info/diastasis-recti>.

Published: 9 November 2019

Written by sug_97

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Categories: A Chiari Warrior's Journey, Testimonials

“We need to perform surgery on your brain, and we need to do it now!”

What would you do if someone said that to you? Your brain – that thing on the top of your head that is all that is you. Someone needs to cut into it and fix what is wrong and there is no time to think. How are you supposed to say, ”Stop, I need to think. There are questions without answers and I need answers.” Well, I do hope that once you have read this – that is exactly what you will do and you will do it with confidence and a strong voice. Why? Because if you are reading this, chances are you are a warrior too, and to fight this fight successfully, you will need to see yourself as a POWERFUL WARRIOR!

It was spring 2017 and I was the happiest gal in the world. We had planned and longed for years and we were finally becoming a family. I could not have been happier. At that time, I was used to getting headaches when I coughed or sneezed, but I figured this happened to everyone. I would never have thought that something was wrong, but all of a sudden I started getting real headaches and I went to the doctor’s office. They said that it was just the pregnancy and that I didn’t need to worry so I went on with my life. However, the symptoms were escalating fast and I was losing my balance, strength, and coordination, and I had major issues with remembering and focusing. When I finally went to the doctor again, they sent me straight to the ER to get an MRI to rule out a stroke.

As we sat there in that tiny room, we were laughing and giggling. My boyfriend tried to keep my spirits up and with ADHD, he was pretty much bouncing off the walls. I looked at us and thought ” We will be the happier family. Him, me and our little baby.” An intern doctor came in through the door and gave me a weird look. ”How are you doing?” he said. I said I was doing my best to not think about the pain. He started doing some tests, but he didn’t really say much. When he was done, he looked at me again and said ”You have a malformation in your brain. That is what is causing your pain and symptoms.” He explained that my cerebellum was pinched and that I couldn’t go home until he had conferred with specialists at another hospital, and then he admitted me. I had no clue about the journey I was about to take and I honestly didn’t even understand what it was I had. I tried Googling that night and I was wondering what the future would hold in store for us.

The next day the head of the department came to see me and told me that my cerebellum was protruding 13 mm from my skull and that they would have wanted me to have an operation immediately, but because of the baby – they would have to wait. Outside my hospital window, the world was getting ready for summer and the calendars now read, ”June 2017.”

They told me I had something called ”Arnold Chiari” (Chiari Malformation Type 1) and Google explained to me why I had been feeling the way I did. Everything fit and I felt a bit safer going home, armed with the knowledge that I could be helped. Browsing Facebook, I found a group of likeminded people and my world suddenly expanded and I felt like I belonged. But the one thing that kept me going was the thought that I was doing this for someone. Not me, but for our tiny family. I had no idea what was coming. One day I was going in for a scheduled ultrasound in our second trimester and the next I was no longer going to be a mom. The doctors told us that our baby wasn’t developing as it should and that they had to let my body reject it. I fell into a deep depression and I honestly can’t remember much of what happened during that time. Dealing with the loss of our dream and my own illness was too much to bear, and I just shut down. The world was a cruel and harsh place.

It was October when I got to meet my first neurosurgeon and I was told that what they had found was considered an important finding. They really wanted me to get on that table as soon as possible. Sitting in front of this highly ranked doctor, I tried to remember all the things that I was supposed to ask. Things I had learned in the group and on Facebook. The retroflexed odontoid, connective tissue disorder connections and unstable necks. But my mind felt like a non-stick surface and I couldn’t remember any of it. It wasn’t that I didn’t think it applied to me – actually the opposite. But every possible idea that I shared with my new neurosurgeon fell on deaf ears, as he would sternly tell me, ”all you have is Chiari and surgery is going to fix that.” I felt intimidated and was afraid to rock the boat. If I had a connective tissue disorder, they would have known, right? I needn’t worry about knowing this, I just needed a duraplasty and decompression and all would be fine. In hindsight, this turned out to be a pivotal point in my fight (and I hope those reading pay particular attention to this point). This is the point where I should have stopped and stood up for myself. Nobody knows our bodies better than we do, we know when something is wrong. I should have listened to my body and trusted my gut. I should have not agreed to brain surgery without additional testing to rule out the possibility of comorbids pathological to Chiari, and not just assume that the only cause of my tonsillar descent was an underdeveloped posterior fossa. Many surgeons say this and are unwilling to test us for any other pathologies before they alter our cranial anatomy. As patients, we believe our surgeons, even when we know that they are simply unwilling to test any further. They believe what is in their textbooks and I am here to tell you that sometimes, they’re wrong and their assumptions are just not correct. I know we want to believe them, but the complications that can arise if we’re right and they’re wrong are not worth it in the end. Believe me, and if you don’t, please just keep reading.

They removed 2.5 cm of my skull bone and 2 cm of the lamina from my atlas vertebra (C1) in March 2018. For two weeks I was fine until I developed chemical meningitis and was hospitalized. Well, fine is maybe an overstatement since they did forget to close my eye before the operation and it actually dried up and stuck to the operating table, scarring my cornea for life (yes, that is a thing). I waited and waited for that moment when I was supposed to feel good again. But it never came. I couldn’t lay down on my back or the back of my head without feeling like I was going to faint, my head pain was awful and I had several neurological symptoms. The doctors tried different medicines and painkillers but nothing worked or it gave me bizarre side effects. No matter what they tried, the pain wouldn’t subside.

”In Sweden, you have to be a year post-operative before we can make any kind of decisions on your health.” This is something I was told so many times and it was so frustrating. I was told that I was an addict to opioids and that I was imagining my pain. ”It isn’t real, you just think it is going to hurt.” Or, ”You are cured and there is no reason you should be in all this pain.” I was fed so many misconceptions and lies during this period, but I had to keep fighting in hopes of getting my life back. Giving up was not an option. After having new MRIs done to look at my retroflexed odontoid and the possibility of instability, I was told I was fine. The pictures were perfect and I wasn’t sick. I was told that an investigation to look into Ehlers-Danlos would take to long and my doctors didn’t think it was important to do before my year was up. They considered me ”well” and I felt worse than ever. If I was cured, why did I feel like I was dying?

In December I wrote to my doctor ”Please help me, I feel like I am about to die.” That must have triggered something in him because he called me on the phone and we talked for a long time. He told me there were no reasons he could see to explain my symptoms. I had a small herniated disc and an arachnoid cyst. Nothing that would cause my pain and symptoms. Even so – he said he would check with some colleagues to see if there was something that could be done, but he was adamant about not touching my brain until I was a year out from my first surgery.

Time was my worst enemy. I couldn’t believe how slowly it went by. February 2019 came and it was 11 months after I first lay on that table. I couldn’t manage the day to day life, I slept all through the day and I was in grave pain. If I tried laying on my back, I would pass out. My boyfriend took care of our house and me, and life was not a life worth living. Once again I tried contacting my doctor. This time I simply wrote a goodbye letter, I knew I was dying. He called me right away and told me that they were going to open me up again. There were still no indications in the images that something was wrong so they asked me to perform some tests before they would schedule me. I did neurological tests, a lumbar puncture, and a new MRI. I had to be put to sleep during the MRI because of my issues and the tests did show my pressure was a bit too high. However, the neurologist thought I had a couple of extra kilos for my height and attributed everything to me being slightly overweight. My second surgery was scheduled in April 2019.

”Had I seen these images on someone else, I wouldn’t have done anything. There is really no visible problem.” My doctor told me this when I was admitted for my surgery. He told me they would remove the herniated disc and the arachnoid cyst, extend the duraplasty and transfer a titanium plate to combat the decompression effect I had of lying on my back. I didn’t really care what he told me they would do – I would have let them put horns on my skull if he thought it would’ve helped. My life wasn’t a life – it was a passage to death’s door, and I didn’t even know how right I was.

”Petra, this is the worst case I have ever seen” – the words out of his mouth when he saw me in the ICU after surgery shocked me. He continued to tell me that I had massive scar tissue that wasn’t visible in the images and that it was the worst case he had seen in his entire career. Had they waited to perform the surgery, I would have become brain dead. I had no pulse frequency in my brain at all and my CSF did not flow. The scar tissue and the herniated disc were now blocking cerebrospinal fluid and it had all grown together like a giant lump of bad juju. Membranes, cerebellum and the spinal canal were like a big jumble.

I was once again cured and sent off to go home and heal. Despite having major issues with pain control that could not even be managed in the hospital, they figured I was fixed and ready to go. I wish I could tell you that it has gotten better, that the doctors finally started listening to me and realized that scar tissue can go back, but they still don’t. Most of them feel like I am now cured and should be fine. I am 6 months out and am starting to feel the same way I felt before surgery last time. I’m in immense pain, losing neurological functions and my day to day life is nonexistent. My pain management is all that is on my schedule and I am functioning on a day-to-day basis. My neurosurgeon called to check up on me a while ago and when I told him how I was doing he said that they didn’t dare to perform any more surgeries on me now. So I asked him about my thoughts on a connective tissue disorder. I was ready for him to give the go-ahead for an investigation. But to my surprise, he said, ”But you don’t have any more issues than your Chiari, do you?” I was done. For two year I had tried to convey what I thought was going on and told him about me and he hadn’t heard or registered a word of what I said. Enough was enough, and I told him that he needed to listen to me and start helping me feel better and find out what was wrong. I am now waiting to look further into my connective tissues and Ehlers-Danlos Syndrome (EDS).

Nobody really knows what is wrong with me and how to handle it. I am a great enigma with my doctors and I can not trust anyone to be my advocate and do the research, so I do it myself. I’ve learned to ask tough questions and not give up and I have also learned to ask for help from people in my position. What are they doing and how can I apply that to my life. Without the community, I would be lost. I would not know what to do when I get to yet another doctor or nurse who asks, ”You have WHAT?” I don’t think I would have had the strength to keep on fighting if I didn’t know that I wasn’t alone. I am pretty sure nothing else can happen now that I haven’t already been through. I have more knowledge and experience, but I am also more worn out, exhausted and sometimes just jaded from having to constantly fight. To go through two major surgeries without any relief is not easy peasy. Sometimes it just sucks – I am supposed to get better from treatments, not worse. Right?

So, I commend you for reading through to this point and hope that by doing so, you now know how important it is for you to suit up for battle. You need to be the warrior from the get-go. No matter if they tell you it needs to get done yesterday – you make sure you have your answers before you agree. Get every answer from your list: Could it be from a spinal leak? A cranial leak? Do I have a connective tissue problem? Could my pressure be causing it? Could it be something else than a congenital malformation that is causing your brain to escape your skull? Study and learn all you can, ask for help and be the pain in the *ss patient if you need to be. I know you don’t want to. I know it is rough and that some days you just wanna lay down and give up. So do that – for a day – and then stand up and fight again! We wait for a lot of things. We wait for urgent care. We wait for prescriptions. We wait for testing. We wait for imaging. We wait for a doctor who will believe us and when one finally does and promises some relief with surgery, we figure we’re done waiting. But THAT IS THE TIME TO WAIT and get all the data before you’re on the other side of surgery, where your anatomy has forever changed and they are telling you that you are healed. I know you think that you are pressed for time, but take time and make sure you have all your ducks in a row and do your very best to make sure that nothing is missed, so you can spend time healing and living life again!

Published: 7 October 2019

Written by sug_97

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Categories: A Chiari Warrior's Journey, Testimonials

When I first started getting hit with symptoms, I was a divorced, single mother of three amazing kids; responsible not only to provide for them but to see them through life, unscathed by life’s situations, and showing them that there was nothing that if they worked hard at something, nothing could hold them back. I had just started to expand in my career as a self-taught auto technician. I was a woman making a place for herself in an industry traditionally dominated by males. July 3, 2015, was the day that my life forever changed. I was brought to the hospital with stroke-like symptoms. I was having visual problems. I couldn’t walk or talk. I had no idea who I was or where I was. The whole right side of my body basically stopped working and the right side of my face was droopy. I was brought to the ER and before the doctor would even try to figure out what was wrong with me, he ordered a series of drug tests. I passed every test, so he finally admitted to me. Once on the neurology floor, more testing was done. They performed an MRI, MRA, EKG and told us that all results were normal. I later discovered that was not the case.

One doctor refused to believe that I was not on drugs. She noted in my file that while she has no evidence to support it, she believed that I am on a drug that they hadn’t screened for, based solely on “my age, single mom status, and prior good health.” She also noted that they found a Chiari, but that based on my symptoms, she believed it was irrelevant (an incidental finding). I would love to see her now and show her just how very wrong she was. I firmly believe that what she put in my medical chart is why I have had such a difficult time getting the care that I need and deserve.

A few days later, I followed up with my PCP. She went over my MRI results with me and pointed out that they found a Chiari Malformation with a 19mm herniation of my cerebellar tonsils. She told me of changes in my white matter that the radiologist said needed to be “further evaluated” and referred me to my first neurologist, who I met within August. He ordered a visual evoked potential and an EEG. Both come back normal, so he diagnosed me with migraines, even after hearing my symptoms, which frustrates me even more as I know that it is not migraines causing these issues.

At this point, I switched my neurology care to another hospital. They went over my history with me and ordered a lumbar puncture to rule out Multiple Sclerosis, which showed banding in my spinal fluid. On September 14, 2015, I was officially diagnosed with Multiple Sclerosis and opted to begin treatment and was to start on Plegridy. As I started the full doses I started breaking out into hives. The docs didn’t seem to think I should worry, so I called the drug manufacturer and they said it should be considered an allergic reaction to the Plegridy, and to discontinue using it and advise my doctor.

After this experience, I switched care back to the first hospital for neurology to get a second opinion. The new neurologist ordered a new brain MRI and one of my cervical spine. There were no changes to my brain MRI, but my cervical imaging showed a syrinx. They weren’t sure if the syrinx was of any significance. So, she referred me to the only MS specialist in North Dakota whom I would meet with, in May. The MS specialist took a complete history on me and ran a bunch of blood work to rule out other illnesses. When those illnesses were all ruled out, she diagnosed me with Radiologic Isolated Syndrome (which means that they saw similar characteristics to MS in my imaging, without MS symptoms). While in her care I continued to get worse, with symptoms progressed to include pins and needles feeling in my hands and feet, occipital headaches that drop me to the ground, cognitive decline, fatigue, weakness, some random numbness, and muscle spasms. She ordered a new MRI and once again no changes were indicated. She began to question if my Chiari was behind my growing number of symptoms. She tried to refer me to Mayo, but my insurance declined her referral.

Eventually, I started having issues walking and my gait was becoming increasingly unsteady, so I return to a local neurology clinic. They did an MRI on my brain, cervical and thoracic spine. They found a syrinx in my thoracic spine and once again they doubted the significance, along with a slight scoliosis convex. When asked what a syrinx was, they told me that it was “an old MS lesion.” I later learned that a syrinx is a cyst inside of the spinal cord caused by a blockage of cerebrospinal fluid and it damages the spinal cord from the inside out – often associated with Chiari Malformation.

During this care for MS, I kept having what they thought were MS relapses, roughly every three to four months. Each time they ordered new MRI images and treated me with high doses of IV steroids for five days in a row. Never once did this imaging ever show an actual MS-relapse or MS activity. I continually had issues with every medication that they put me on to help “try to delay the progression of the MS” (the MS that I never had). In November 2017 I started Ocrevus, which was just FDA approved that year. Around this time, I started having strange symptoms and thought them just to be side effects of the medication, not realizing that something else might be causing it all. I met with my neurologist before my second full dose and I told her everything that I was experiencing. We opted to take me off the Ocrevus and they repeated the MRI yet again. Again, the MRIs show absolutely nothing new for activity and she admits that she doesn’t know what to do for me. I am three years in at that point and never once have they seen any MS activity.

I made an appointment with yet another neurologist. I met with him on March 2019 and he immediately pulled my MS diagnosis. He instead decides that I have migraines and anxiety. He believes that anxiety is why I am completely numb all over my body. He disregards the Chiari and the syrinxes when asked about them stating that they do not cause any symptoms that aren’t of any significance. I left this appointment more frustrated than I was before and began losing hope that I was ever going to be able to figure out what was going on with me. How am I ever going to get the proper treatment when I am consistently blown off whenever I ask about a condition that was noted from day one?

I began working more closely with my PCP. I went over the last three years of my medical journey with her and told her that I felt that we really needed to dig into this Chiari Malformation that has been called out in my imaging since July of 2015, especially since I had many symptoms that may be from it. I told her about a neurosurgeon that I had been told about in Sioux Falls, SD, who specializes in Chiari. We also talk about a connective tissue disorder known as Ehlers-Danlos Syndrome and start comparing my symptoms (of which I had several). My PCP sends in referrals to the neurosurgeon, a genetic counselor, and a rheumatologist. (Because with Chiari you will more than likely have several comorbidities.)

In June we traveled down to the specialist. He went over my MRI images and stated that my herniation was 19mm (which was almost quadruple the amount that they get concerned about). That coupled with my symptoms led to discussing the need for me to have decompression surgery. Finally, after four years we know the true culprit of what was wrong with me, my brain is literally falling out of my skull. We leave with a bunch of literature for the surgery and I call his office back Friday and tell them my decision to go forward with the surgery and we started planning for me to have surgery in early September. Just as we thought everything was on the right course, my insurance drops a bombshell on me. I received a call from the specialist office, and they tell me that my insurance has declined my surgery stating that I can have it done locally by the same incompetent neurosurgeon that I met who couldn’t even measure my Chiari correctly. I have appealed this decision twice and both times I was denied. I am now pushing for a State Fair Hearing.

The last four years have been one hell of a ride when it comes to my health. My health problems have made it far more difficult to continue working on cars. As my symptoms wage war on my body, I am now forced to work on light duty and have been for the last two and a half years. I know that my days of working in a shop are coming to end as I just can’t handle the physical requirements of the job anymore. My quality of life in the last year alone has declined sharply. I used to be the energetic mom who could coach a sports team after working all day in the shop and still have the energy to keep up with the housework, now that is not the case. I manage to push on and get them to their activities, but I’m exhausted to the core. When this all began back in 2015 my kids were 8, 7, and 5. They are now 12, 11 and 9. At times I feel like I am a horrible mother because I miss the mom that I used to be. I miss the days when my kids weren’t worried about my health and when we could make plans with other families and keep them. I have lost so much of who I am thanks to the ignorance of some members of the medical community. I am losing faith in the medical profession in general. Male doctors have been the worst as I go through this journey, as women seem to have to first prove that it’s not psychosomatic before we’re worthy of being helped, even with imaging shows something to the contrary. When I present them with proven facts about Chiari Malformation, it still gets dismissed and it is extremely frustrating. The longer I go without receiving proper treatment, the more likely it becomes that some of this damage will become permanent and to me, that is not acceptable. I am fighting for my life and I will not back down until I receive the proper care, I can’t!

Published: 4 October 2019

Written by sug_97

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Categories: Uncategorized

My son’s story started right from the moment he was born. I knew as soon as he tried to breastfeed that something was wrong. At that time, I didn’t know exactly what I was getting into. I figured he was aspirating like my first child. I took my brand-new baby home and tried to feed him for four weeks. Breast, bottle, syringe, you name it, we tried it. At four weeks he couldn’t keep weight on or eat. We spent a few hospital admissions trying to figure out the problem with many, many extensive tests. They inserted an NG tube to feed him and we thought wow what a relief! They assured me he just had GERD and it would get better with age. Let me tell you nothing got better.

When he was seven months old, he began vomiting anything and everything. My baby cried for the first eight months of his life and screamed blood-curdling screams while hooked to the feeding pump. I thought it was reflux but looking back I should have known better. Tylenol would help. (How would Tylenol help reflux?)

They continued to look because I was a squeaky wheel making weekly visits to the children’s emergency department, telling anyone who would listen that something was wrong with our baby. Our son’s doctors thought we were crazy and that we, “could not cope as parents.” We were admitted to the hospital for a few tests and in walks a lady introducing herself as a physiatrist. I was thrown off but wasn’t surprised. She talked to me for an hour. I remember asking her if she was there because they think I’m crazy. “They think I have Munchausen’s, don’t they?” I asked. “Maybe,” she replied. At the end of the conversation, she told me that I needed to keep advocating for my child. She understood the situation and knew I wasn’t crazy, and she too was convinced that the doctors were overlooking something. It felt good to have someone finally believe me, but all that I could do was hope that it would result in them finally looking into what was really going on with our son.

Finally, a doctor agreed to do an MRI and there it was. On New Year’s Eve, at the age of thirteen months, we found the source of the problem – our son had a Chiari malformation and pressure was building in his brain because part of his brain had dropped out of the skull and was blocking the flow of cerebrospinal fluid. They recommended an emergent decompression surgery and surgery was scheduled for January 5th. When the day that the diagnosis came, the doctor who had thought that I was crazy the entire time, came in and apologized.

At my insistence, they did a sleep study that showed that our son suffered from central sleep apnea. The sleep study showed he never ever made it to a deep sleep before awakening. The same doctor who refused to believe that our son was anything other than a typical baby awakening often was being humbled by the results. His initial surgery was bumped, and on January 11, 2019, our baby went in for brain surgery (a posterior fossa decompression with duraplasty).

Cameron had a very hard recovery. After decompression, he seemed hyperactive and unresponsive to my presence (almost catatonic). I work at a hospital and it seemed like he was acting much like babies born with narcotic addictions. I asked if it could possibly be related to the morphine he was on and once again, I felt as though my concerns were falling on deaf ears. Finally, three days after decompression, they considered it and after switching him from morphine to Dilaudid (hydromorphone), I had my son back and he was diagnosed with an allergy to morphine causing a paradoxical reaction. He still hadn’t walked after surgery and I waited by his bedside holding on to hope. Finally, on day five, he walked. By day six his swallowing was amazing, and he could be fed without vomiting! He finally could sleep through an entire night without awakening. Things were finally looking up!

Less than a week after returning from the hospital, he started acting as he had prior to surgery. I took him in, and they diagnosed him with a post-operative leak known as a pseudomeningocele. They assured me that he would be fine if I could just “get him to slow down and rest.” Two days later I couldn’t handle seeing him in such pain again, so I took him back. They decided to take him back into surgery to repair the leak.

This time, we knew going in that morphine was not an option. We talked with the anesthesiologist right before surgery and he ensured us that Cameron WOULD NOT be given morphine. After the leak surgery I went to the recovery room and the moment I set eyes on my baby I knew he was given morphine. I asked and they denied it, saying he was only given Tylenol. Finally, on the ward, the doctors looked and affirmed that he was indeed given morphine and they apologized.

Morphine wasn’t his only allergy. We already knew that he had a dairy allergy requiring him to have a special formula and we were given an epinephrine injector due to an allergic reaction he had to pumpkin. The hospital was made aware of all his known allergies. However, during his recovery, my son started vomiting uncontrollably because they gave him the wrong formula in his feeding tube. While the nurse scurried to clean up the vomit, he was oblivious to the fact that our son was going into anaphylaxis. I took the epi-pen out of my purse and saved our child’s life right there in the hospital. From that day forward our son would go into anaphylaxis over everything and anything several times a week without explanation. I pushed for additional testing and again was treated like an irrational, crazy mom. They did the tests to make me stop bugging them, and the tests came back positive for Mastocytosis.

We fought a thirteen-month fight for our son, that no family should have to fight. It wasn’t just the medical problems that took the toll on us, but the incompetence and neglect from those we were trusting to help us. It was financially, emotionally and physically exhausting. Our eldest son, Dominic, who is just shy of three years older than Cameron, was passed around our family while we were in and out of the hospital begging for the medical professionals that we trusted to help us find answers. It took a toll on our relationships, with one another and with friends and family, because everyone had an opinion on everything we were doing. As a family, Cameron’s dad and I underwent counseling to heal from all the emotional turmoil we had gone through. It changed us, and we had to learn to interact and trust again.

Today, Cameron is a little firecracker, full of energy and spunk. He is always on the move. Even on Cameron’s hardest days it nearly slows him down. He loves his sleep. Cameron still struggles with his mast cell day-to-day and is on a few different medications to stabilize it.

For anyone out there still looking for answers, don’t give up and don’t give in. You can do this!

Published: 11 June 2019

Written by sug_97

3 Comments

Categories: Acquired Chiari Malformation, Atlantoaxial Instability, Comorbidities, Craniocervical Instability, Dysautonomia, Ehlers-Danlos Syndromes, Etiological Co-Factors, Expressive Writings, Heritable Disorders of Connective Tissue, Inspirational, Syringomyelia

Today is 11th April, 2019. Spring is in the air, yet I struggle to appreciate its presence. My daughters are at school, my son is at home in bed yet again. Like so many other days he is unable to get up. My son is 19 years old and looks just like any other 19 year old. You would never guess that this 19 year old is fighting a tremendously unfair battle every single day and has done so for several years.

Let me rewind.

My son was around 9 years old when he first complained of a lack of feeling on his right side and regular headaches. Doctors in Ireland, where we were living at the time, told him to drink more fluids after his daily soccer practice and put the numbness down to a trapped nerve. When he was 14 years old and living in Canada, he was told exactly the same by doctors there. However, when I finally insisted on him being referred to a neurologist, this very neurologist laughed at my son for wasting his time. He was told that it was all in his head. I vividly remember telling him off myself in the carpark on our way home.

I also remember being disappointed about his worsening school reports, blaming the onset of teenage years for his inability to concentrate and retain information. Blurred vision was also dismissed when his eye test came back just fine. Doctors didn’t grow concerned until he was 16 years old and living in France when a routine soccer medical check-up showed a sudden scoliosis deterioration from 8 degrees to 40 degrees. Subsequent MRIs showed Chiari Malformation (CM) with extensive Syringomyelia.

Neurosurgeons were quick to reassure him that all should be fine after a decompression surgery. Nevertheless, I spent hours researching these unknown rare conditions and found two experienced neurosurgeons, one in England and one in Belgium, for second opinions. Whereas surgeons in France took a more traditional approach and talked about inserting a shunt, both these surgeons warned strongly against this and so we made the decision to go to Belgium for the surgery. We felt well informed and were full of hope when my son embarked on his healing process 3 years ago.

Let me tell you where we are now.

Doctors in Europe tell us that my son is one of the unlucky few as his health has drastically deteriorated. Scar tissue has attached itself to his brain tonsils but that only explains part of his deteriorated health. So I embarked on a mission to get to the bottom of these problems. Surely there was hope to be found in the health system in France, one of the best in the world! After countless appointments with multiple health professionals, we were dumbfounded by the complete lack of understanding, knowledge and pure arrogance in relation to CM and its associated conditions, which resulted in my son’s mental health being questioned yet again.

I started carrying out my own research, which clarified the distinct link between brain disorders and compromised immune/digestive systems. Whereas his doctors are reluctant to make that link, the evidence is clear. 18 months after surgery, my son got struck down by glandular fever. Again, we were hopeful that this would only be a temporary setback. Today however, my son suffers from chronic fatigue syndrome as well as dysautonomia.

At our wits end last summer, we turned to a hospital in the United States that specialized in Chiari Malformation. Our first consultation with its Managing Director turned out to be an eye opener. This neurosurgeon could literally finish our sentences. My son was finally understood. It turns out that doctors in Europe had failed to diagnose another condition, Ehlers-Danlos Syndrome (EDS), which caused craniocervical instability. This in itself can be a debilitating condition but the combination of craniocervical instability with brain decompression surgery can be a death sentence. He further explained that such patients are deemed to benefit from Occipitocervical Fixation (OC) Fusion surgery. However, this surgery has not yet received the green light for these conditions from Health Services in Europe.

Armed with a diagnosis of Complex Chiari, we faithfully returned to my son’s French doctors, only to be met, yet again, by a lack of understanding. My request for an upright flexion/extension MRI was seen as outlandish and peculiar. Turns out, an upright MRI is not yet available in France. Instead they still rely on flexion/extension X-ray images which fail to adequately detect craniocervical instability.

In recent discussions, our son’s Belgian neurosurgeon cautiously recognizes the link between CM and EDS. However, as these studies are in their infancy in Europe, doctors still carry out decompression surgeries without checking for EDS. He also questions the durability of an OC Fusion but agrees that much more extensive research needs to be carried out in Europe and that my son is extremely unfortunate this hasn’t happened yet.

So where does this leave my son? In the land of limbo. Knowing that Europe is trailing some 10 years behind the States in this field. France, with its inherent reluctance to change, probably closer to 15 years. School is no longer an option for my son as his brain fog and memory loss have become more and more of a problem, his fatigue too debilitating and his headaches too frequent.

We are tired of fighting the system, tired from having to spell out the name of his conditions to health professionals, tired of being misunderstood. There are days I avoid going out as I don’t want to answer people’s well-meant questions. There are days I am ashamed of the anger that wells up inside me when friends air their worries about their children’s school results. There are days I feel like I am being punched in the stomach when I see his friends play a soccer match. People tell me I am strong. I don’t agree. I wish I had been strong all those years ago and believed my son over his doctors.

My son is my hero. My son is a fighter. My son has generally done what health professionals told him to do, taken every medication health professionals told him to take, followed the advice health professionals told him to take, yet the system continues to let him down. When I look into my son’s eyes, I still see this steadfast determination but I now also see pain and disillusionment. My son believed me when I told him we would overcome this together. My son believed me when I told him the worst would be over soon. My son doesn’t believe me anymore. I feel that I have failed him.

Complex Chiari diagnosed so late is a life sentence. It has brought pain, sadness and isolation, not only to my son but to my entire family. My husband and I are learning to compartmentalize, enjoy moments. We live in hope that our son’s better periods will begin to lengthen and pick ourselves up every time these come to an abrupt end. We have to. We owe it, not only to our son but to our daughters too.

We continue our journey through the unknown, thankful for the sources of information coming from the United States, usually met with skepticism and resistance by French health professionals. However, one thing I have learned from our journey so far is that we cannot fight these conditions and health services alone. Surely there must be more people out there in Europe. Surely, as a group we can start making a difference. Let’s unite! Let’s educate! Let’s raise awareness! Our children deserve so much better! Our children deserve to be heard, supported, and at the very least, understood!

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