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7 People with Chiari and CCI Share Their Stories

To complete our series on Chiari malformation and Craniocervical Instability, I wanted to share more of the interviews that I didn’t have the opportunity to use during my exploration of the Issues of Diagnosis and Treatment. These interviews are great supplemental material to that discussion and help to see the problem from the perspective of those who have the condition. We wrap it up with my own information, as representation of what I suspect are hundreds of thousands of people suffering from undiagnosed forms of craniocervical junction disorders and why I believe I have one. While this group is by no means insignificant, ultimately none of us will know what affects us until finally put through proper testing, as described in this post.

7 people share their journey with CCI, or Chiari Malformation, from diagnosis and treatment, to symptoms and barriers to care. A special Zebra Pit series in honor of Chiari Awareness Month

This is the third post in our Chiari Awareness Month Series: The first two are available here:

Out of respect for the privacy of participants, I am only publishing their first names and general location. Some people preferred to use a pseudonym, which is denoted with an asterisk (*) next to the participant’s name.

Name: Jackie

Location: Sacramento, CA

Time from onset of symptoms to diagnosis: 25-30 years

Jackie underwent posterior fossa decompression with craniotomy, C-1 laminectomy and duraplasty in November, 2017. Prior to surgery, Jackie suffered severe head pain, persistent weakness in her right arm, and by 2015, extreme dizziness, lightheadness and near syncope that was caused by orthostatic hypotension that had no other cause. It was believed that Jackie’s Chiari malformation which was classified as Chiari 1.5, was congenital in nature, due to the small size of her posterior fossa, which caused everything to get pushed forward. When asked if she considered the surgery a success, she noted “For me the procedure was extremely successful. It eliminated my neck pain and chiari headaches completely. It also completely cured my chronic hiccups and motion sickness (which I wasn’t expecting). The only thing that remains is the orthostatic hypotension which is less severe. I manage that with increased salt intake only.”

Despite the successful outcome of Jackie’s surgery, achieving it was a bit of a feat. “My primary care doctor sent me to a neurologist who ordered the MRI that revealed the Chiari. The neurologist completely blew it off, insisting it couldn’t possibly be causing my symptoms. He thought my problem was “vestibular migraine.” Even though my headaches never completely fit the migraine profile, that’s what doctors assumed I had. I had to keep trying to find the cause of my dizziness, and it took until September 2016 to pinpoint orthostatic hypotension. It was tough navigating the different workups. Once I was able to get two neurosurgery opinions, things got much easier. I was pretty lucky in that I had good insurance (a plus in the United States) and I had access to a brilliant neurosurgeon at Stanford University.”

Jackie’s case demonstrates how even when Chiari is clear cut and easy to diagnose; the conclusions of doctors who aren’t really qualified to make a determination about intervention, but who do anyway can be a huge obstacle to intervention and treatment of Chiari. Lucky for Jackie, she didn’t let his ill-advised treatment plan (to do nothing and assume her problem was something else) stop her from seeking treatment elsewhere. I also feel it’s important to note that Jackie’s doctors were smart enough to evaluate her for the presence of hypermobility before making a final determination on how to treat her.

Name: Christina

Location: South East England

Time of Symptom Onset to Diagnosis: Unsure.

Christina has EDS related Chiari malformation. It took Christina 30 years to get a diagnosis of EDS. She had an upright MRI because of awful pressure headaches. A horizontal MRI missed the presence of a malformation, but she persisted and was given an Upright MRI at the Medserena in London, which finally confirmed the diagnosis. To date, Christina hasn’t had any procedures. For her Chiari, if symptoms continue to progress, she will need surgery: However, Christina’s chiari malformation and symptoms are complicated by Craniocervical Instability. The procedure which she needs, a spinal fusion, isn’t available through UK’s National Health Service, forcing Christina into the position of raising funds to so she can have both surgeries with a doctor in Spain.

Name: Maura

Location: Newark, DE

Time from onset of symptoms to diagnosis: unknown

 Maura was diagnosed with Chiari I in 2007 at age 6 via a traditional horizontal MRI. “I had a decompression shortly after diagnosis and had significant relief for 8 months. After that symptoms returned but slightly differently, so I had a full decompression. Turns out it was craniocervical instability that caused the symptoms to return after the first decompression so the second decompression was ineffective.” Despite this setback, today Maura’s only residual symptoms of CCI and Chiari is that she struggles with fine motor coordination. In additiona to chiari I and CCI, Maura lives with hypermobile Ehlers-Danlos Syndrome, Gastroparesis and POTS.

In Maura’s case, had she been evaluated for the presence of hypermobility like Jackie was, it’s conceivable she would have been able to avoid two separate surgeries. It is unlikely the condition developed in such a short span as eight months.

Name: Kaitlyn

Location: Worthington, KY

Time of Symptom Onset to Diagnosis: Unsure. Kaitlyn had symptoms from early childhood that were ignored due to similar familial symptoms until an injury in high school revealed her condition.

Kaitlyn was diagnosed in July of 2006 with Arnold Chiari Malformation type 1 via traditional horizontal MRI following her cheerleading accident. Treatment for Kaitlyn came quickly, being performed in a matter of months after diagnosis. She had posterior fossa decompression surgery for a 2.2cm herniation. During the surgery they performed a laminectomy of her C1 to create more space in the spinal canal, opened the dura, cauterized some of her cerebellar tonsils and inserted a stent for cerebrospinal fluid drainage.

Kaitlyn considers her surgery successful and has no plans for further intervention: However a number of her pre-operative symptoms remain. “I have debilitating [hemiplegic] migraines that replicate stroke symptoms, neck stiffness, neck pain, trouble swallowing and my head shakes.”

Kaitlyn notes location and lack of knowledge to be the biggest obstacle in her ongoing care. “I live in a small town in Kentucky and the doctors around here have little to no knowledge about Chiari Malformation. There have been doctors [who] Google ‘Chiari malformation’ in front of me and then act like experts. Recently I have traveled to Cleveland Clinic and Johns Hopkins to meet with doctors who were knowledgeable about Chiari Malformation. Being able to meet with a doctor who knows about Chiari Malformation has been the hardest part of this journey.”

Name: Martha

Location: Kent, England, UK

Time of Symptom Onset to Diagnosis: None

Martha’s Chiari I malformation diagnosis for Chiari was incidental. At the time, she wasn’t experiencing any symptoms. That was in 2012, but lately she’s found things have changed. “I very recently have developed tingling in my lower jaw/around my mouth, chattering of the teeth, TMJ type pain and severe headache mostly on the right side.” Martha is currently waiting for another neurology consultation to discuss her new symptoms and next steps. During another MRI for her symptoms in 2017, they diagnosed her with possible facet joint compression due to posture, which has been helped by regular physiotherapy. In addition to Chiari, Martha has Ehlers-Danlos Syndrome, Fibromyalgia, hypothyroidism and lipedema.

Name: Jennifer

Location: Fairhope, AL

Time of Symptom Onset to Diagnosis: 15 months

Jennifer has Chiari I malformation which was discovered through MRI, but she couldn’t recall which kind. In addition to Chiari, she has pseudotumor cerebri. Jennifer had posterior fossa decompression, which failed. Multiple procedures, from nerve blocks to a spinal stimulator were attempted in an effort to reduce her pain, but none were sufficient. Her final surgery in January ’18 entailed a fusion of C1-3 at Johns Hopkins.

 Today, Jennifer regrets all these attempts. “If I had to go back, [I] would not have any of the surgeries or procedures. The 8 years that I was sick was nothing but obstacles. It was a nightmare. I almost took my life last Halloween, because that final surgery just about broke me. We have struggled financially. It’s been hell for my children, and it destroyed my marriage. I’m now a single mom and rebuilding my life from nothing.”

7 people share their journey with CCI, or Chiari Malformation, from diagnosis and treatment, to symptoms and barriers to care. A special Zebra Pit series in honor of Chiari Awareness Month

Since Jennifer has given up on surgical intervention, she lives a different sort of life now.

“When I walked away from doctors and pharma last year, I really, really did. Makes me feel icky to even look at medical stuff. None of the surgeries or procedures helped me. They just made me worse. I got off of pharma and trained myself to process pain in healthy ways. Found the app, Curable, super helpful, and I started CBD oil, which began healing the damage to my cerebral cortex.

“My pain level varies with the weather, and today it’s kicking my ass. In another month or two, I may have a totally different story. I’m currently in spasm and probably functioning at 6-7… have to slow down to a snail’s pace during the summer… and that’s very hard on me mentally, because I often feel like I missed out on 8 years and don’t want to waste time.

“I’m in as much if not more pain, now, compared to 2013, but I don’t process pain the same. I’ve dealt with the emotions that came along with pain… guilt, fear, disappointment, shame, etc. So, now pain is just pain. All humans function in some type of pain, whether physical or emotional. It’s up to us to find a healthy way to walk through it.”

Name: Rose*

Location: Chicago, IL

Time of Symptom Onset to Diagnosis: Unsure.

Rose has a somewhat unusual story in that she was first diagnosed with Chiari at birth, but while the surgeon discussed her hydrocephalus and the intervening shunt they would place, he failed to report and explain that she also had a Chiari malformation.  When she was diagnosed in 2004 with Chiari, it came as a total surprise to her. It wasn’t until after that Rose discovered the paperwork in her parents’ records, which briefly mentioned the diagnosis.

The onset of Rose’s symptoms are hard to determine due to a cascade  of health problems that probably coincided with onset. “I started having problems that I thought were allergies about 9 months before. Then in September I had a shunt failure. I was officially diagnosed June of 04 through the use of traditional head/ abdominal CT, MRI and x-rays. There was still concern that the shunt was failing again. Decompression was done June of 2004, after 3 shunt revisions had been performed.

“[I] haven’t needed any other surgeries for that. My symptoms after surgery were stable, despite a six month recovery.” In addition to Chiari, Rose was diagnosed with Ehlers-Danlos Syndrome in 2010 and developed POTS a few years after her Chiari treatment, so while she’s had favorable outcomes to her chiari, she still struggles with many other symptoms.

Name: Michelle

Location: Cincinnati, Ohio

Time of Symptom Onset to Diagnosis: 10 Years and Counting

I believe my own story belongs here like that of many others. While I do not have a diagnosis of Chiari or CCI, I have symptoms consistent with CCI. My earliest started in my early 20’s, when I started passing out every time I tried to extend my neck backwards to look up. My symptoms have compounded over time and I struggled the most over the last ten years with the following symptoms, which have fluctuated over time; severe head and neck pain, tremors, feeling like my head was simply going to drop off, occasional speech impairment, significant impairment of cognition and memory, weakness in my arms, dizziness, difficulty with my fine motor skills, tinnitus, insomnia and depression. I have gone through jags of vomiting for days to entire weeks due to my head pain and go through periods where I get hiccups several times in a single day.

As I explained in this post, like many of the men and women who are absent diagnosis despite such strong symptomology, I do not have a diagnosis because my malformation doesn’t become apparent until I am in the upright position or my neck is extended and flexed and the only testing available to me is a traditional MRI. Despite my request for an upright dynamic MRI or flexion and extension MRI, I have been told by multiple neurologists that “upright MRIs don’t work” or “I have no idea how to order that test,” or “let’s see what we can do about this in other ways,” which usually entails failed drugs with side effects too great to bear, attempts at nerve blocks, and other unsavory options like botox.

7 people share their journey with CCI, or Chiari Malformation, from diagnosis and treatment, to symptoms and barriers to care. A special Zebra Pit series in honor of Chiari Awareness Month

Another EDSer in my hometown had to go to New Jersey to be treated by a surgeon who first ordered and read her MRIs through email for a fee. Without doing so she would still be living with her symptoms and yet we both live and go to the best teaching hospital in the area, where one would hope the doctors would be aware of the most cutting edge techniques.

Recently, I had a lumbar puncture to relieve the pressure my CSF was causing. At this time, the source of my increasing pressure is considered “idiopathic” or of unknown origin, but I feel strongly that there is a cause that could be easily determined with the proper test. Removing some CSF fluid helped initially with my tinnitus, light sensitivity and positional headaches, but they have returned in just a matter of a few weeks and I feel it is likely the next steps will be a shunt.

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My symptoms have fluctuated over the years and I feel I’ve made good headway in shoring up my neck through physiotherapy and excessive rest. Still, my neck occasionally slides out of joint and that familiar, unbearable pain returns. One of my uppermost vertebrae now has so much play in it, I can move it freely with only a gentle push, but for whatever reason, it hurts me much less and I have greater range of motion than I used to. Still, my head pain persists and I have to take daily abortive medications for migraine and limit the amount of time I spend in upright positioning. Even sitting in my recliner can cause a nasty headache that’s impossible to relieve without lying flat. 

While I want to know if Chiari and/or CCI are the cause of my misery, I am not at all sure I would agree to surgery, so I haven’t contacted an expert outside of my area for consultation. I may yet, depending on the evolution of my symptoms.

During the course of my interviews, I had no less than a dozen people come forward with similar stories and I see others on my friend’s lists, among my followers and in my support groups who suffer with these symptoms and also suspect strongly the cause to be the same. Like me, these people have neither the means nor the access to do the proper testing. My belief is that Chiari and CCI contribute heavily to the missing millions of ME/CFS and is largely occupied by undiagnosed people affected by EDS. I feel certain one of these conditions is indeed responsible for the years I spend in bed, barely able to function and fear regression. Though I treat my symptoms well through the use of diet, exercise and supplementation, my life is greatly affected by this condition, which I’ve come to privately term “the condition that shall not be named.”

Have your own story to tell? Please add it in the comments. This story is far from over and the more patient voices who get heard the better.

As always, thanks for reading. I hope the stories of people with Chiari and CCI have helped you to understand firsthand what it’s like to live with these rare conditions. If you’d like to know more about these conditions, please take a look at the other posts in this series meant to bring awareness to the issues of Chiari, CCI and craniocervical junction disorders overall.

For More Patient Perspectives on Chiari and CCI, check out these posts:

Resources:

All interviews were conducted through internet correspondence from September 5-13, 2019.

An eighth story is also included, one of a person who can't achieve diagnosis for clear cut symptoms of a craniocervical junction disorder and EDS, myself. Learn what factors prevent diagnosis and how people with Chiari and CCI live before and after surgical intervention of their condition.

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The Issues of Diagnosis and Treatment of Chiari and Craniocervical Instability

*The names of some subjects interviewed for the post have been changed to protect their privacy. These changes are denoted by an asterisk (*).

Chiari Malformation Awareness Ribbon displayed on "The Issues of Diagnosis and Treatement of Chiari and Craniocervical Instability, an investigation in the barriers of access for patients.
September is Chiari Awareness Month

In my first post on Chiari malformation, I outlined the standard procedures for the treatment and diagnosis of craniocervical junction disorders, primarily Chiari malformation, though also touching briefly on Craniocervical Instability. I also highlighted a few of the issues with getting a proper diagnosis, due to the improper use of traditional horizontal (supine) imaging techniques as the standard of diagnosis, which is propelled by a lack of knowledge, training and availability, even in some teaching hospitals and medical centers that tout their use of cutting edge technology.

While my focus in this series is on Chiari malformation and craniocervical instability because these are the two most commons forms of craniocervical junction disorders associated with Ehlers-Danlos Syndrome, it’s important to understand that there are many forms of craniocervical junction disorders and that diagnosis and treatment of all of these conditions are problematic. At times, I will discuss CJD as a whole, because there is research which impacts them all and I feel they’re all interrelated, as are many of the secondary conditions that tend to develop with CJD.

I do this also in part because, as one researcher noted in the literature I reviewed for this series, there is little consensus on the diagnosis and treatment of these disorders, even their classification. For example, while some experts consider craniocervical instability as part of Chiari type I while others have labeled it Chiari 0 and others insist it is an entirely separate entity and shouldn’t be categorized as a Chiari malformation at all. These discrepancies aside, all of these disorders can exist alone or in unison and whether wholly congenital, caused by illness, injury or hypermobility, every patient with CJD deserves a thorough workup with the use of proper imaging to ensure the most successful procedures possible.

The underdiagnosis and mistreatment of Craniocervical junction disorders are experienced worldwide, in both private and public healthcare systems today. We will explore this phenomenon through the use of two primary sources; a review of current literature available on the subject and direct patient feedback I collected through interviews conducted in writing with people who have been diagnosed with Chiari and craniocervical instability (CCI), also known as Occipitoatlantialaxial Hypermobility.

While I am happy to be able to share a few success stories, my review was rather disheartening. Information on the subject of the proper treatment and management of craniocervical junction disorders is readily available, yet it is not being utilized by the people making decisions about the processes and procedures necessary to come to or rule out a diagnosis of a craniocervical junction disorder (CJD), let alone how to treat it with precision for better surgical outcomes for patients, with the exception of a select few “Chiari experts” worldwide. These doctors are few and far between and are often difficult for patients to connect with due to issues of location, socio-economic status (including insurance coverage, if any is even accepted by these doctors).

Poor Training and Availability of Testing Persist in the World’s Richest Countries, Regardless of the Healthcare System’s Structure

The best information I found was out of India, where the prevalence of CJD is higher than anywhere else. Given the range of techniques performed to gain accurate measurements based on positioning (the use of Upright [functional] MRI, flexion and extension positioning in MR imaging) and investigation of CSF flow and movement through the use of dynamic cine MRI, one must ask themselves if perhaps the higher number in cases in India can be partially accounted for by their use of advanced techniques. They have taken the time to carefully investigate the most useful and varied methods of diagnosis, therefore uncovering the actual variety of these disorders that do not show up with the supine positioning of the patient in traditional MRI.

In many cases, available options for patients in publicly funded healthcare settings are even worse than those living in countries with privatized healthcare, where patients with rare disease requiring specialized care are often left to fend for themselves. Privatized healthcare systems can’t attract top experts and are unwilling to pay premium pricing to help what they consider to be a small portion of the population. In Canada and the UK both, patients are forced to seek care in foreign countries, as their own privatized healthcare systems refuse to diagnose these conditions or honor cross-border diagnoses.

Take for example, the case of Marjorie*, a UK resident aged 21. Marjorie had to go to France for evaluation and diagnosis of her symptoms. When the doctor diagnosed her with CCI, she felt utterly triumphant, but the realization that she couldn’t get treatment for her condition, a much needed spinal fusion, in the UK. In order to be treated, Marjorie and her parents have been forced to turn to fundraising, so they can return to France for the needed operation. The price tag for her surgery is estimated to be $60-80K.

While in the US, Gina* aged 38, traveled from Kansas City, MO to a doctor in Florida for diagnosis and treatment of her Chiari Malformation and craniocervical instability, a process which took her over 5 years to complete because she had to crowd source donations to meet the cost of treatment, as well. Even after everything Gina went through to achieve treatment, she continues to live with the same debilitating symptoms as before; her surgery a complete failure.   

While these problems have differing sources, it’s the same for patients in both settings; the rarer the condition, the more expensive the doctors and treatments. Both situations leave treatment attainable only to those who can afford travel expenses and exorbitant charges for their healthcare needs.

Poor Surgical Outcomes Due to Inadequate Testing

A comprehensive investigation on why many patients with CCI, Chiari Malformation and other CJDs are being left with no where to turn.

Even when you do luck out enough to gain access to medical intervention, these surgeries are only successful for some. In the course of my research, I came to understand this was largely due to the outdated use of imaging techniques which provides a lack of clarity in both the severity and variety of issues faced in this population. It is my feeling that many patients are undergoing these surgeries without successful outcomes because surgeon are effectively going in blind, or with only a partial view and understanding of the full problem. Because of this, many patients are no better off post-operatively than they were before or experience only mild improvements.

Atul Goel, department head of neurosurgery at K.E.M. Hospital and Seth G.S. Medical College in Mumbai states

The treatment of basilar invagination [a form of craniocervical junction disorder in which a vertebra at the top of the spine moves up and back, toward the base of the skull (3)] must be based on the understanding of its pathogenesis. As complications related to an inappropriate treatment can be devastating in nature, exact anatomical and biomechanical evaluation and precise surgical treatment is mandatory in these patients.

(1)

How does Goel recommend this investigation take place for basilar invagination and other conditions within CJD? Through the extensive use of modern day MR imaging techniques, including those mentioned earlier, dynamic MRI, upright (functional) MRI, and MRIs performed in the flexion and extension positions. In addition to MRI, Goel recommends the use of CT (over that of x-ray) to get accurate measurements of the size and bony features and protrusions of the neck, foramen magnum and posterior fossa, which could further complicate treatment or need to be addressed through the use of additional surgical techniques.

His argument that the origin of CJD is necessary to treatment plans are best explained in his own words:

In our recent study, we identified patients in whom there was ‘vertical mobile and reducible’, wherein there was basilar invagination when the neck was flexed, and the alignment was normal when the head was in extended position. Although such mobility is only rarely identified, it does indicate the need for dynamic flexion-extension studies to preoperatively assess the craniovertebral instability. In Group B the alignment of the odontoid process with the anterior arch of the atlas and with the inferior aspect of the clivus remains normal and there is no instability in these patients.

Majority of patients (58%) with Group A basilar invagination had a history of minor to major head injury prior to the onset of the symptoms. The pyramidal symptoms formed a dominant component. Kinesthetic sensations were affected in 55% of patients. Spinothalamic dysfunction was less frequent (36%). Neck pain was a major presenting symptom in 77% of patients. Torticollis was present in 41% of patients. The analysis of radiological and clinical features suggests that the symptoms and signs were a result of brainstem compression by the odontoid process.

(1)

This view is quite a bit different from doctors in the US who often seem to believe Chiari and similar malformations of the foramen magnum are always congenital in nature. It could also explain why some surgeries are much more successful than others.

Traditional MRI may be the least helpful type in diagnosing CJD, while uprightand dynamic MRIs are the preferred methods of imaging among top experts.

In “Image Based Planning for Spine Surgery,” Elsig and Kaech note

“The planning of decompressive and reconstructive spine surgery is based on clinical findings and diagnostic imaging. The evaluation of segmental instability, but also of the risk of destabilization following a needed decompression of the spinal canal and/or neural foramina make complex spine surgery a challenge, bearing in mind the risk of failures in case of an inadequate operation. The insufficient correlation between imaging and clinical symptoms originating from the spine and its nerve roots has been frustrating for some decades.”

(2)

They list several of the same problems with relying on traditional horizontal MRI and note the need for the use of the same modern imaging techniques to ensure successful outcomes for more patients overall. Problems which are only present in load bearing positions can easily be hidden in a patient laying on their back (2). Positioning can have dramatic outcomes on diagnosis.

Another study by Elsig and Kaech notes some of the differences seen in patients in the horizontal position versus dynamic upright MRI throughout the spine, noting an increase in positive outcomes for surgeons who have this information prior to intervention:

A Postion-dependent appearance or increase of posterior disc protrusions, a varying degree of central canal and foraminal stenosis, and of mobile spinal instability was demonstrated in cases with preceding less remarkable or even negative recumbent MRI examinations.

A Type I Chiari Malformation, with positional increase of cerebellar tonsils downward herniation and brainstem compression was identified in a patient studied for a c5/6 degenerative disc disease. At this level an increased disc protrusion and segmental kyphosis was seen during upright imaging.

(4)

Other Issues Barring Positive Outcomes for CJD

Of course the failure to thrive post-operatively can’t always be blamed on outdated imaging or surgical techniques. In the case of Chiari I, researchers found “that abnormal changes in the DTI metrics in patients with Chiari I malformation indicate microstructural abnormalities in different brain regions that may be associated with neurocognitive abnormalities (5).” In other words, in some cases, Chiari 1 malformation may drive the development of microstructural abnormalities throughout the brain that could be affecting patient symptoms.

Dr. Pellay notes in another study that “the presence of syringomyelia implies a less favorable response to surgical intervention,” with only 9 of 20 syringomyelia patients seeing significant post operative improvements versus 13 out of 15 patients without syrinogomyelia seeing significant improvement (6).

According to research, age can also have an effect on outcomes, which also seemed to hold true in my interviews. In the case of Graeson, whose Chiari I malformation wasn’t addressed until age 2 and a half due to one surgeon deciding his problems weren’t pronounced enough despite his CSF flow being completely blocked. Once the surgery was completed after his mother, Angela sought a second opinion. For Graeson, the outcome was good despite the delay. Now a year older, Graeson’s speech and swallowing problems have all disappeared. Angela’s advice to other mothers and patient who suspect chiari is to keep pushing to find a doctor who is truly knowledgeable of the condition.

Unfortunately, not all young Chiari patients see the same results. In the case of Tom*, a young man with chiari in the US, developed a CSF leak after his decompression surgery and contracted meningitis during a lumbar puncture. He must now undergo spinal taps every 6 months to relieve ongoing intracranial hypertension. A year after surgery, Tom describes a surreal feeling, as if waking from a fuzzy dream. His headaches remain and he is under pain management to try to keep them under control.

Conclusions and Further Considerations

Craniocervical Instability Awareness Image displayed on "The Issues of Diagnosis and Treatement of Chiari and Craniocervical Instability, an investigation in the barriers of access for patients.

There are many reasons which affect the level of access to the diagnosis and treatment of this condition, from proper training of the doctors doing these procedures, to the processes and standards set forth by the healthcare organization, to standards and regulations which bar the use of non-native diagnosis and testing. In addition, not all of the imaging techniques mentioned are widely available, which can create further barriers.

All of these obstacles to proper treatment affect the lives of people with CJD, from diagnosis to treatment, to overall successful outcomes after treatment. I continue this discussion in the final portion of this series in which I present information about several people with CJD in the United States and UK. That post is now available here: 7 People with Chiari and CCI Share Their Stories

Resources and Related materials

  1. Goel, Atul, et al. “Basilar invagination, Chiari malformation, syringomyelia: A review.” Neurology India.
  2. Elsig, Jean Pierre and Denis Kaech. “Imaging Based Planning for Spine Surgery.” Taylor & Francis Online.
  3. “Basal Invagination.” The Spine Hospital at the Neurological Institute of New York, Columbia Spine.
  4.  Elsig, Jean Pierre and Denis Kaech. “Dynamic Imaging of the Spine with an Open Upright MRI: Present Results and Future Perspectives of FMRI.”
  5. Kumar, Manoj, et al. “Correlation of Diffusion Tensor Imaging Metrics with Neurocognitive Function in Chiari I Malformation.” Science Direct.
  6. Pellay, Prem K, et al. “Symptomatic Chiari Malformation in Adults: A New Classification Based on Magnetic Resonance Imaging with Clinical and Prognostic Significance.” Neurosurgery; Congress of Neurological Surgeons.
  7. Mossman, SS, et al. “Convergence Nystigmus Associated with Arnold-Chiari Malformation.” JAMA Neurology.
  8. Furtado, Sunhil. “Correlation of Functional Outcome and Natural History with Clinicoradiological Factors in Surgically Managed Pediatric Chiari I Malformation.Neurosurgery; Congress of Neurological Surgeons.
  9. All interviews were conducted through internet correspondence from September 5-11, 2019.

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An exploration of the barriers to the diagnosis and treatment of craniocervical junction disorders such as chiari malformation  and craniocervical instability (CCI) for patients worldwide in both public and private healthcare systems in the US, Canada and the UK. Includes a review of current literature on treatment & dx, plus patient interviews in this awareness month investigation.
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Chiari Malformation: What You Need to Know

Chiari Malformation: What You Need to Know

Part I of our Chiari Malformation Awareness Month Series

It’s Chiari Malformation Awareness Month and time to put this important neurological condition in the spotlight. It’s a subject near and dear to many EDS zebras, as it is a common comorbid condition to the Ehlers-Danlos Syndromes.  Chiari Malformation can also be congenital and is believed to be the widest known cause of CM today, however it is possible this may be a misconception due to the failure of many to recognize the role that hypermobility and craniocervical instability may well play in the development of Chiari later in life.

There are also a number of socio-political factors that block the treatment and discovery of Chiari, which will be explored in the second part of this two part series. Part two will also include the firsthand perspectives and experiences of people who have a confirmed Chiari Malformation (CM) diagnosis so we can get an intimate picture of what it’s like to live with the condition, though it’s important to understand that like most chronic illnesses, no two people seem to experience CM quite the same. In this first post, we will walk through the basics of CM, learning what Chiari Malformation is, the four known types and how they are classified. Of course no informational post on a condition would be complete without exploring the known causes, symptoms, and treatments.  

What is a Chiari Malformation?

It is said that the Chiari Malformation affects 1 in 1,000 people: However, the increased use of diagnostic imaging has shown that Chiari malformation may be much more common(1). Chiari Malformations are structural defects located at the in the base of the skull where the spine meets it. These structural defects can cause the brain to sag into the spinal canal, causing herniation of a portion of the cerebellum, cerebellar tonsils and/or the fourth ventricle. Depending on the severity, there are a variety of symptoms and complications that come with Chiari Malformation.

The cerebellum is the part of the brain that controls balance, memory, cognition and motor skills.  Normally the cerebellum and parts of the brain stem sit above an opening in the skull that allows the spinal cord to pass through it. This is called the foramen magnum.  In CM, part of the cerebellum extends below the foramen magnum and into the upper spinal canal, causing pressure on the cerebellum and brain stem that may affect functions controlled by the cerebellum and block the flow of cerebrospinal fluid (CSF).

Learn about Cerebrospinal Fluid and Lumbar Puncture: here.

There are four types of chiari malformation. According to the American Association of Neurological Surgeons, they are classified in the following ways:

 Type I occurs during fetal development and is characterized by downward displacement by more than four millimeters, of the cerebellar tonsils beneath the foramen magnum into the cervical spinal canal. Anomalies of the base of the skull and spine are seen in 30-50 percent of patients with Chiari I malformation.

Type I is also believed to include the formation of Chiari Malformation through Craniocervical Instability, where CM often meets with EDS or another Hypermobility Spectrum Disorder (HSD), such as JHS, Marfan Syndrome, or Loey-Dietz Syndrome. According to the Pain Relief Foundation, “Craniocervical Instability (CCI), also known as the Syndrome of Occipitoatlantialaxial Hypermobility, is a structural instability of the craniocervical junction which may lead to a pathological deformation of the brainstem, upper spinal cord, and cerebellum. It primarily occurs in patients with Ehlers-Danlos Syndrome and other hereditary disorders of connective tissue (4).”

The Ehlers-Danlos Society notes that we need to develop a better understanding of the prevalence and variance of CM in EDS/HSD, along with educating neurosurgeons on the role of hypermobility may play in chiari malformations (5).

Diagram compare a human head absent Chiair Malformation in comparison to diagram's depicting Types I and II. Image property of the Zebra Pit.

Type II is characterized by downward displacement of the medulla, fourth ventricle and cerebellum into the cervical spinal canal, as well as elongation of the pons and fourth ventricle. This type occurs almost exclusively in patients with myelomeningocele, a congenital condition in which the spinal cord and column do not close properly during fetal development.

Type III includes a form of dysraphism (a spectrum of congenital anomalies resulting from incomplete or aberrant neural tube fusion, 3.) with a portion of the cerebellum and/or brainstem pushing out through a defect in the back of the head or neck. These malformations are very rare and are associated with a high early mortality rate or severe neurological deficits in patients that survive.

Type IV is the most severe form and the rarest. The cerebellum fails to develop normally. There may be other associated malformations of the brain and brainstem. Most babies born with this malformation do not survive infancy (2).

Symptoms Associated with Chiari Malformation

According to the NIH’s Chiari malformation Fact List, the hallmark sign of Chiari malformation is headache, especially after sudden coughing, sneezing, or straining.  Other symptoms may vary among individuals:

  • neck pain
  • hearing or balance problems
  • muscle weakness or numbness
  • dizziness
  • difficulty swallowing or speaking
  • vomiting
  • ringing or buzzing in the ears (tinnitus)
  • curvature of the spine (scoliosis)
  • insomnia
  • depression
  • problems with hand coordination and fine motor skills 

Some individuals with CM may not show any symptoms and symptoms may change or fluctuate, depending on personal physiology, the compression of the tissue and nerves and on the buildup of CSF pressure. 

Infants with Chiari malformation may experience the following:

  • difficulty swallowing
  • irritability when being fed
  • excessive drooling
  • a weak cry
  • gagging or vomiting
  • arm weakness
  • a stiff neck
  • breathing problems
  • developmental delays
  • inability to gain weight (1).

Of course, this is just a basic list of the most common symptoms of CM. As mentioned, it is possible for a Chiari malformation to be present, but completely asymptomatic (free of any noticeable symptoms). In these patients, the condition is usually discovered through MRI taken for unrelated reasons. However, patients may experience symptoms in the future. It has also been known for symptoms to fluctuate over time.

 As the condition progresses, there are many comorbid conditions that can develop with CM and different types have different symptoms. According to the NIH, common comorbid conditions include:

Hydrocephalus is an excessive buildup of CSF in the brain.  A CM can block the normal flow of this fluid and cause pressure within the head that can result in mental defects and/or an enlarged or misshapen skull.  Severe hydrocephalus, if left untreated, can be fatal.  The disorder can occur with any type of Chiari malformation, but is most commonly associated with Type II. 

Spina bifida is the incomplete closing of the backbone and membranes around the spinal cord.  In babies with spina bifida, the bones around the spinal cord do not form properly, causing defects in the lower spine.  While most children with this birth defect have such a mild form that they have no neurological problems, individuals with Type II Chiari malformation usually have myelomeningocele, and a baby’s spinal cord remains open in one area of the back and lower spine.  The membranes and spinal cord protrude through the opening in the spine, creating a sac on the baby’s back.  This can cause a number of neurological impairments such as muscle weakness, paralysis, and scoliosis. 

Syringomyelia is a disorder in which a CSF-filled tubular cyst, or syrinx, forms within the spinal cord’s central canal.  The growing syrinx destroys the center of the spinal cord, resulting in pain, weakness, and stiffness in the back, shoulders, arms, or legs.  Other symptoms may include a loss of the ability to feel extremes of hot or cold, especially in the hands.  Some individuals also have severe arm and neck pain. 

Tethered cord syndrome occurs when a child’s spinal cord abnormally attaches to the tissues around the bottom of the spine. This means the spinal cord cannot move freely within the spinal canal. As a child grows, the disorder worsens, and can result in permanent damage to the nerves that control the muscles in the lower body and legs.  Children who have a myelomeningocele have an increased risk of developing a tethered cord later in life.

Spinal curvature is common among individuals with syringomyelia or CM Type I.  The spine either may bend to the left or right (scoliosis) or may bend forward (kyphosis).

(1)

Diagnosis of Chiari Malformation

CM is typically diagnosed by a neurologist, preferrably one with an expertise in treating CM.  The doctor will perform a physical exam and check the person’s memory, cognition, balance (functions controlled by the cerebellum), touch, reflexes, sensation, and motor skills (functions controlled by the spinal cord).  The physician may also order an MRI, X-ray or CT. The most common imaging used is MRI. There are problems with diagnosing Chiari through the use of traditional supine positioning: However, this will be covered in our next post in this series.

Other tests the doctor might order, according to the AANS, include sleep or swallowing studies, a BAER test, myleogram, or SSEP (2).

Chiari Malformation Treatment

Left – Pre-operative. Right – Post-Operative. Image property of Mayo Clinic.

In the case of asymptomatic patients, no intervention is needed. However, monitoring of the patient, including regular check-ups, is usually recommended. In many cases, Chiari Malformation symptoms and disease progress may only be relieved or halted through surgical intervention. According to the NIH, these procedures are as follows:

The most common surgery to treat Chiari malformation is posterior fossa decompression (PFD). In the case of type II CM, a PFD is usually followed by a spinal fusion, where hardware is placed to create a supportive structure for the head and neck. This creates more space for the cerebellum and relieves pressure on the spinal cord. 

The surgery involves making an incision at the back of the head and removing a small portion of the bone at the bottom of the skull. This procedure is known as a craniectomy.  In some cases the arched, bony roof of the spinal canal, called the lamina, may also be removed to create sufficient space for the cerebellum. This procedure is referred to as a spinal laminectomy. The surgery should help restore the normal flow of CSF, and in some cases it may be enough to relieve symptoms while other patients show no improvement or even a worsening of post-operative symptoms.

Next, the surgeon may make an incision in the dura, the protective covering of the brain and spinal cord.  Some surgeons perform a Doppler ultrasound test during surgery to determine if opening the dura is even necessary.  If the brain and spinal cord area is still crowded, the surgeon may use a procedure called electrocautery to remove the cerebellar tonsils, allowing for more free space.  These tonsils do not have a recognized function and can be removed without causing any known neurological problems.

The final step is to sew a dura patch to expand the space around the tonsils, similar to letting out the waistband on a pair of pants.  This patch can be made of artificial material or tissue harvested from another part of an individual’s body.

The Zebra Pit provides everything you need to know about Chiari Malformation in this post, from the different types, to common comorbid factors and symptoms, to diagnosis, treatment and outcomes.

Infants and children with myelomeningocele may require surgery to reposition the spinal cord and close the opening in the back.  Findings from the National Institutes of Health (NIH) show that this surgery is most effective when it is done prenatally (while the baby is still in the womb) instead of after birth. The prenatal surgery reduces the occurrence of hydrocephalus and restores the cerebellum and brain stem to a more normal alignment.

Hydrocephalus may be treated with a shunt or tube that drains excess fluid and relieves pressure inside the head.  These tubes drain the excess fluid into either the chest cavity or the abdomen so it can be absorbed and disposed of by the body. 

An alternative surgical treatment in some individuals with hydrocephalus is third ventriculostomy, a procedure used to improve the flow of CSF.  A small hole is made at the bottom of the brain cavity, diverting the CSF flow to relieve pressure.  In cases where surgery was not effective, doctors may open the spinal cord and insert a shunt to drain a syringomyelia or hydromyelia, which is increased fluid in the central canal of the spinal cord (1).

What’s Next?

Today, we learned about what Chiari malformation is, the four types and their symptoms, diagnosis and surgical interventions. The next post in this series on CM will explore the outcomes for patients with Chiari Malformation, along with the socio-economic impacts that affect receiving treatment of this complex disorder in both private and public healthcare settings. It’s now available here: The Issues of Diagnosis and Treatment of Chiari and Craniocervical Instability

Then our final post will include interviews by people who have either received, or are awaiting treatment along with information about another group of patients, who strongly suspect CM, but cannot even get the proper the imaging for confirmation due to the strictures these socio-economic factors create. It’s now available here: 7 People with Chiari and CCI Share Their Stories

Let’s start the conversation early! Are you one of the suspected undiagnosed? Have you been diagnosed and/or treated? Let us know your story in the comments! And as always, thanks for joining us for this educational post about Chiari malformation.

Resources and Related Reading:

  1. National Institute of Health. Chiari Malformation Fact Sheet.
  2. AANS. Chiari Malformation.
  3. Science Direct. Learn more about Spinal Dysraphism.
  4. The Pain Relief Foundation. What is Craniocervical Instability?
  5. The Ehlers-Danlos Society. Neurological and Spinal Manifestations of the Ehlers-Danlos Syndromes (for Non-experts).
  6. NORD. Chiari Malformations.
  7. Conquer Chiari Website
  8. Piper, RJ, et al. The BMJ. Chiari malformations: principles of diagnosis and management

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Chiari Malformation may be one of the most underdiagnosed conditions for spoonies and zebras with chronic head pain and other neurological symptoms. If you have EDS, HSD, JHS, GHS, Marfan Syndrome, Loey-Dietz, ME/CFS, Fibromyalgia or a similar condition, you need to know about Chiari Malformation symptoms, along with how its diagnosed and treated.
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Lumbar Puncture

I recently underwent an exploratory lumbar puncture, and I wanted to share my experiences and talk about why my neurologist and I opted for this somewhat risky procedure. I’ll talk about some of the reasons to undergo exploratory lumbar punctures and how they are performed. I include the guidelines and procedures both you and your doctor will likely be following before during and after the procedure. This way you’ll be prepared and cool as a cucumber the day you or your loved one undergoes this procedure, also known as a spinal tap.

As a sufferer of intractable migraine for over a decade, this is a procedure I have long wanted performed, but been equally afraid to undergo, so I never pushed for it with my old neurologists, who didn’t seem to be taking it at all seriously. It took me a long time to decide the procedure was for me. After finally getting my migraines under control just this past year and realizing it did nothing for the terrible pressure in my head, it had me wondering if more needed to be done than just finding the right migraine medication(s). This ever growing pressure, which became almost unbearable this summer, was accompanied by sharp pain in my head that was positional, intermittent vision and hearing loss, non-stop tinnitus, and a strong pulse in my ears that had the power to turn my tinnitus into the never ending *beeeeep beeeeep beeeeep* of an alarm clock; and the on/off switch seemed to be connected to standing or straining.

Then I had the worst dystonic attack I’ve ever had and things only got worse from there. That’s when my head pain specialist and I knew it was finally time. If I’m being honest, it was probably way past time. You can read more about it here: Why Vacations Don’t Exist for People with MCAS.

Enough about me. Let’s learn more about CSF, lumbar puncture and find out what to expect if you need to undergo the procedure.

The Role of Cerebrospinal Fluid

When my doctor started talking about performing a lumbar puncture for signs of high pressure known as intracranial hypertension, I did what I always do, research everything I could find on the procedure, from what to expect during and after the procedure, what type of conditions can be diagnosed using LP and what exactly cerebrospinal fluid is, along with how its analysis can be interpreted. Join me in learning more about this procedure now.

Cerebrospinal fluid is defined as a “clear watery fluid which fills the space between the arachnoid membrane and the pia mater.” Essentially, it’s the liquid that fills your spinal canal and surrounds your brain and spine. CSF serves several important functions in the central nervous system. CSF cushions the brain and spinal cord against shock. It provides a barrier. It helps to maintain pressure at a constant level inside the skull. Finally, CSF delivers nutrients to the brain and carries waste products away into the bloodstream. CSF is protected and separated from our blood by the blood-brain barrier. There is about 100-150ml of CSF in the normal adult human body. It is primarily made up of water and is alkaline. CSF is continually produced, predominately by the brain’s ventricles, and is entirely replaced every 6 to 8 hours.

An increase in the volume of blood or brain tissue results in a corresponding decrease in the fluid. Conversely, if there is a decrease in the volume of matter within the cranium, as occurs in atrophy of the brain, the CSF compensates with an increase in volume.

Cerebrospinal Fluid-Britannica Science

What is a Lumbar Puncture?

A lumbar puncture (LP) is often performed to check for the presence of bacterial, viral and fungal infections, excessive intracranial pressure, a cerebrospinal fluid (CSF) leak, cancers of the brain or spine, subarachnoid hemorrhage (bleeding on the brain), or to aid in the diagnosis of other neurological conditions such as Guillain-Barre syndrome and multiple sclerosis or a mitochondrial disease. LPs can also be performed for injection of chemotherapy or other medications into the spinal canal, as directed by your physician. They can be performed on an emergency basis, such as in the case of injury, or be prearranged, which is often the case with non-emergent exploratory procedures.

A physician usually performs the procedure, however even a well trained nurse practitioner can administer a spinal tap. My own procedure was performed by a nurse practitioner in training who was supervised by a neurologist; he did a fantastic job.

To perform a lumbar puncture, a thin, hollow needle is inserted into the spinal canal. If pressure is a concern, then your neurologist will request a reading of opening and closing pressures. Mine was 14.5 to begin, a middle of the range number that could be too high for some and just right for others. My closing pressures were a 9.5, after they had removed two small vials of CSF to be sent to the lab for testing.

Is Lumbar Puncture Safe?

Spinal taps have a reputation for being a high risk procedure, likely due to early failures during the development of the procedure back in late 19th century. This was in part due to the lack of imaging at the time. Today the procedure is much safer, with the advent of imaging technology, prospective and retrospective study have informed the development of clinical features that are associated with low risks and complications.

In trained hands, Lumbar Puncture is a straightforward procedure with few complications. According to The Health and Social Care Information Centre for England, there were 55,427 episodes of hospital care that included a diagnostic Lumbar Puncture in 2011-12, 0.53% of all hospital consultant episodes, which in Northern Ireland’s health system, with 600,000 admissions annually, would equate to about 8 diagnostic Lumbar Punctures per day.

“Diagnostic Lumbar Procedure,” NBCI

Preparing for a Lumbar Puncture

Before administering a lumbar puncture for your symptoms, your doctor may perform additional testing. These can include MRI, CT and blood tests which check for your ability to clot, as well as your kidney function.

Prior to having a LP, your medications will be reviewed, along with any recent illness, medical conditions or allergies. If you think you may be pregnant, you also need to alert your team right away so the necessary precautions can be taken. You may be asked to discontinue the use of any drugs which may thin the blood, from NSAIDs (advil, aleve, toradol, etc.) to heart medications such as Warfarin (Coumadin®), Pradaxa®, Heparin®, Lovenox®, or clopidogrel (Plavix®). Generally speaking, you can expect to be off of these medications anywhere from 3-7 days prior to your procedure to ensure good post-operative clotting of the needle puncture.

In addition to reviewing any and all medications taken, including supplements, any allergies also need to be discussed and you should provide a complete list to your surgical team so they can help to ensure your safety. This was a long list for me and my surgical team went so far and to cover every substance I would come into contact with the day of my surgery and again, just before their use to ensure no mistakes were made. I found this incredibly reassuring and would love to see more surgeons employ these tactics.

On the day of the procedure, you will be asked to refrain from eating and drinking for a period of time prior to your procedure. If only a local is used, as was the case for me, you can eat up to two hours prior to your procedure. If twilight sleep or sedation is employed, you may need to discontinue foods by midnight on the night before your procedure.

Finally, you will need to be accompanied by an adult who can drive you home and stay with you for at least 24 hours after your procedure. You may be given a gown for your procedure or your clothing may be draped in order to protect it and create a sterile field.

If the procedure is to be performed on a child, parents may be allowed to accompany them during the procedure.

How a Spinal Tap is Performed

Image by David Mark from Pixabay

Most scheduled LPs are out patient procedures and you can usually go home within 30-60 minutes of completion. A LP is performed with the use of fluoroscopy. In fluoroscopy, an x-ray is taken and then converted into a digital image your physician can see on screen. This helps them to be very precise when placing the needle in the spinal canal, reducing the danger of injury to the spinal cord.

At the beginning of the procedure, an IV may be placed in the arm or hand to administer the sedative, if one is given. You will likely be asked to lay on your stomach and may be asked to position your arms above your head with your face to the doctor so you can easily communicate. If you have difficulty with this position due to spine issues or other disability, ask the team to help you get into a position you’re comfortable in. It is very important to be able to lay still during the procedure, so you must be comfortable.

Once in position, the patient will be draped with sterile cloth and the surgical field will be sterilized with a preparatory solution, such as Betadine. A local anesthetic will be administered, which may feel like a pinch or sting.

The x-ray is taken and appears on the fluoroscopy monitor to guide your doctor. Once she or he has located the correct spot, they will begin the insertion of the needle and may occasionally take other x-rays to determine the depth of the needle is correct. There are several layers to get through, and while you shouldn’t feel pain, you may feel the needle access each layer of tissue and feel a pop as it goes through the final layer. It’s best to keep this in mind, so you remain calm and still despite these strange sensations. According to Doherty and Forbes:

The Lumbar Puncture needle pierces in order: skin, subcutaneous tissue, supraspinous ligament, interspinous ligament, ligamentum flavum, epidural space containing the internal vertebral venous plexus, dura, arachnoid, and finally the subarachnoid space.

Consent should include the risk of Post-Lumbar Puncture Headache (PLPH), which has a published incidence of 32%. Other risks to discuss include failure to obtain CSF, localised bruising, bleeding and local discomfort at the injection site. Iatrogenic meningitis and nerve root injury are exceptionally rare.

“Diagnostic Lumbar Procedure,” NBCI

This is important, not only because you can feel the needle break through some of these layers, but also because the puncture of ligaments can cause some soreness and back pain in the days following the procedure and people with collagen disorders should probably consider the need for extra healing time due to our deficiency and slow healing times.

Once the needle is inserted, you may be helped to reposition yourself to your side, taking the fetal position. The fetal position is the proper position for which spinal taps are usually performed when entering from the lumbar region of the spine.

If opening pressures are requested, as in the event of suspected CSF leak or IIH, the doctor will call out these numbers to the nurse for documentation and may or may not be commented upon. Then the appropriate amount of CSF fluid will be removed for testing.

During the procedure, you will be asked to monitor how you feel and whether or not your symptoms are changing as your fluid is collected. I didn’t feel any real difference during the procedure, however by the time I left the facility 30 minutes later, my headache was completely resolved, I was no longer light sensitive and my vision cleared as if the ward I was on had gone from dismal and dreary to full sun; a sun I could now look toward without intense pain. This indicated to the team that my pressures were indeed too high for my particular physiology. Once an adequate amount is removed for testing, the needle is removed, a band-aid is applied and you are asked to lay on your back to allow gravity to help with the work of closing the wound.

Post Procedure Expectations

Your team will likely check on you a couple of times while you recover in post-op. They will ask you questions about your symptoms and ensure everything is fine before sending you home. While it is important that you lay flat in your bed for a period after your procedure (usually 24 hours), you can simply tip the seat back in your car for the ride home.

Be sure to follow the recommendations of your care team to facilitate healing and avoid infection, which could be very serious. For this reason, it’s also very important to keep your team informed about any new symptoms or changes you experience after your procedure, both to ensure your safety should complications arise and in the event that further testing or procedures are indicated to take care of any problems which may arise.

It is important that the patient lay flat both to facilitate healing and to help avoid a spinal headache, which can happen if too much CSF is removed or continues to leak. Each day beyond the 24 hour period, you should attempt to be up and about. If no headache occurs, you’re generally free to go on about your life, with the exception of swimming and bathing (showering is okay). However if a spinal headache begins, the only solution is to lay in bed for another day. This process is repeated over the next two days. If on the 4th day you rise and experience a headache, a blood patch may be necessary.

A blood patch requires a second lumbar puncture in which your own blood is used to bring the pressure back up and to help facilitate clotting.

Barring any initial complications which might indicate the need for a blood patch, some patients may experience a spike in intracranial pressure within a few weeks after the procedure which would indicate an overproduction of CSF. In this case, another lumbar puncture will be performed to bring the pressure back down and a stent may be inserted to maintain drainage.

CSF Testing and Analysis

There are many tests that can be performed on CSF. Which tests your doctor orders depend largely on your symptoms and the outcomes of other diagnostic testing. Tests range include the observation of its physical characteristics (pressure, color, viscosity, turbidity), chemical tests to analyze the composition and content of fluid (immunoglobulins, proteins, LD, CRP and others), microscopic examination of red blood cells, white blood cells and cytology, and infectious and parasitic tests. For a complete list with detail, go here.

My CSF Analysis:

Because my doctor and I were most concerned about intracranial hypertension due to my specific symptoms, most of my tests were directed at this problem, with a few extras to rule out other possibilities. These are the tests he ran:

Rather than showing you the negative ones, I’ll include images of the surgeon’s notes, along with those which were abnormal.

This test indicates my blood-brain barrier is slightly impaired. This could explain why my “brain fog” has continued to grow, as everything that’s come up in my search on the subject points to either Alzheimer’s Disease or multi-infarct dementia (MID). I don’t find this overly surprising as my grandmother had Alzheimer’s and my mother was showing definite signs as early as 50. It seems I must beat them to every diagnosis. I will likely write more on this subject as it’s entirely too vast and somewhat off-topic, but obviously I need to explore this further.

The high protein levels in my CSF may indicate there’s brain injury (possibly due to a mild chiari malformation that hasn’t been caught on a supine MRI, but could also be a sign of a tumor, bleeding, or nerve inflammation. This needs to be explored further.

Next Steps

As you can see, more exploration is necessary based on my test results. It will likely be a while before I have an official diagnosis in light of these tests. My doctor started by putting me on a diuretic, which will likely interfere with my POTS and have to be withdrawn. If my pressure climb again, I may need a repeat procedure and a stent placed. Until I meet with him in mid- September, I will not know for sure if he is diagnosing me with intracranial hypertension, but it seems highly likely. At this point, he would have no choice but to label it as idiopathic since no source has yet been discovered.

For many people with EDS, the cause is often related to craniocervical instability (CCI) and/or Chiari malformation (CM), though sometimes a tear in our delicate soft tissues is indicated as the cause of a CSF Leak. Interestingly, CSF leak is often what causes Intracranial hypertension. While I have struggled with symptoms of these problems for years, I need a qualified neurosurgeon who understands and can order proper flexion and extension MRI’s to either confirm or rule out CCI or CM. As much as I love and appreciate my head pain specialist, it’s beyond his realm of expertise.

CCI, CM, CSF leaks and IIH are all topics we have yet to explore on the Zebra Pit. They are topics I plan to cover in the coming months. Of these conditions, which do you think we should cover first? Are you affected by any of these conditions? We’d love to hear your experiences with lumbar puncture and diagnosis! Let us know about it in the comments.

As always, thanks so much for joining us! I hope you found this post educational and interesting. I hope you’ll share it with others who might also find it useful.

Resources and Further Reading


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When my doctor started talking about performing a lumbar puncture for signs of high pressure known as intracranial hypertension, I did what I always do, research everything I could find on the procedure, from what to expect during and after the procedure, what type of conditions can be diagnosed using LP and what exactly cerebrospinal fluid is, along with how its analysis can be interpreted. Join me in learning more about this procedure now.