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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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4 thoughts on “7 People with Chiari and CCI Share Their Stories

  1. So interesting hearing the different experiences with chiari and CCI, especially the vastly different times to diagnosis. Thanks for sharing!

    1. It would be interesting to know how much time of diagnosis affects longterm outcomes, wouldn’t it? Seems like there might be some correlation. Thanks for stopping by to check it out, Lyndsay!

  2. It’s disconcerting to think so many people could have an some form of undiagnosed craniocervical junction disorder.

    These personal stories give such a hands on kind of snapshot into individual experiences of symptoms, diagnosis, and treatment/management. It’s sad but unsurprising some have spent so many years waiting for a diagnosis. It’s good to read that Kaitlyn found her surgery successful, but disappointing so many of the clearly debilitating symptoms are still there even after such a difficult procedure.

    You’ve done brilliantly with presenting these personal accounts, as have the wonderful individuals who’ve shared their stories.
    Caz xx

    1. The credit all goes to those brave souls willing to take the time to answer my questions and relive and reflect on their experiences. I couldn’t have asked for more from my interviewees! I hope each participant is proud, whether they shared a little or a lot, and whether they chose to be anonymous or not. All of their stories help to build a picture of what it’s like to live with this condition that research never could, and will hopefully help bring about a good deal of awareness for everyone who suffers from this complex set of conditions! As always, thanks so much for reading and commenting, Caz. You’re the best! xx

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