When I was in high school, I began experiencing a series of neurological symptoms that would later be diagnosed as Arnold-Chiari Malformation Type 1, also known as Chiari Malformation or Chiari 1 Malformation. Even though Chiari Malformation itself is common and affects 1 in 1000 people, the majority of people I interact with have never heard of it and often have questions like “what is Chiari Malformation?”, “what are the symptoms of Chiari Malformation?”, and “is there a cure for Chiari Malformation?” Here is how I explain Chiari Malformation with the help of resources from the National Institute of Health, as well as some background information on my own experience with the condition.
What is Chiari Malformation?
For the purposes of this post, I use the term Chiari Malformation or Chiari, but the full name of the condition is Arnold-Chiari Malformation Type 1 or Chiari 1 Malformation. Chiari Malformation is a structural, congenital defect in the base of the skull near the cerebellum.
NIH describes Chiari Malformation using the following language:
“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 (called the foramen magnum). When part of the cerebellum extends below the foramen magnum and into the upper spinal canal, it is called a Chiari malformation. Chiari malformations may develop when part of the skull is smaller than normal or misshapen, which presses on the brain and forces the cerebellum to be pushed down into the spinal canal. The pressure on the cerebellum and brain stem may affect functions controlled by these areas and block the flow of cerebrospinal fluid (CSF)—the clear liquid that surrounds and cushions the brain and spinal cord.”
One of the ways I explain Chiari Malformation is by saying I have “too much brain to contain” and that my brain extends into my spine. Oh, and in case you’re wondering, it’s pronounced like “Key-are-ee” or “KEY-R-EE.”
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What are the symptoms of Chiari Malformation?
There are a few interesting things about Chiari Malformation symptoms. One is that the size of a Chiari descension (or how far the cerebellum extends into the spinal canal) has no correlation with what symptoms a person with Chiari will experience, or if they will even experience any at all. Chiari Malformation symptoms often change over time, and may not even become noticeable until later in life.
The National Institute of Health lists the following symptoms for Chiari Malformation:
- Headache, especially after sudden coughing, sneezing, or straining
- Neck pain
- Hearing or balance problems
- Muscle weakness or numbness
- Difficulty swallowing or speaking
- Ringing or buzzing in the ears (tinnitus)
- Curvature of the spine (scoliosis)
- Problems with hand coordination and fine motor skills
- Difficulty swallowing
- Excessive drooling, gagging, or vomiting
- Breathing problems
- Difficulty eating and an inability to gain weight
Chiari Malformation can also be associated with other chronic illnesses and disorders, such as Ehlers-Danlos Syndrome, Syringomyelia, Postural Orthostatic Tachycardia Syndrome/Dysautonomia, Tethered Cord Syndrome, Spina Bifida, and others.
What are your symptoms of Chiari Malformation?
When people ask me what my symptoms of Chiari Malformation are, I typically list 3-5 different symptoms and don’t go into an exhaustive list, unless I am at a doctor’s office. My Chiari symptoms have changed ever since I started experiencing them as a teenager- some symptoms have improved and gone away, while others have gotten more noticeable over time.
Some of the Chiari Malformation symptoms I have experienced include:
- Constant headache that gets worse after coughing or sneezing
- Chronic back, neck, head, and shoulder pain
- Vision loss- Chiari Malformation is present in 30% of people with my eye condition, accommodative esotropia. Chiari Malformation and Accommodative Esotropia together led to me receiving a diagnosis of Decompensated Strabismus
- Ringing in the ears
- Numbness in the hands and feet (peripheral neuropathy)
- Leg spasms
- Mild difficulties with swallowing
- Problems with coordination and fine motor skills, including trouble walking and writing
- Chronic migraines with flashing lights as a trigger
- Sensitivity to light (related to migraines)- this includes both photophobia (sensitive to bright lights) and photosensitivity (sensitive to strobe/flashing lights)
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Getting diagnosed with Chiari Malformation
During my first year of high school (when I was 14 years old), I was referred to a neurologist for unexplained migraine headaches and poor balance, as well as worsening vision. After a series of tests and a short hospital stay, I was referred to another neurologist who had written extensively about complex pediatric headache and included a section in one of their books about Chiari Malformation, as symptom onset can begin in a patient’s teenage years. Unfortunately, this doctor has since passed away, but the other neurologist we met with agreed with the possible diagnosis of Chiari Malformation. While I had other diagnostic testing and specialist visits to rule out other conditions, we worked with the assumption I had Chiari Malformation.
Currently, the only definitive diagnostic test for Chiari Malformation is an MRI- there is no way to screen if someone will be born with Chiari Malformation. I had a neurosurgeon describe an MRI as a “2-D image of a 3-D problem”, as it can be difficult to visualize the crowding and descension of the cerebellum on imaging tests, which means that people often go years before receiving a Chiari diagnosis (though I’ve also known some people who discovered they had a Chiari Malformation when getting a MRI for something else).
In my case, I spent the entirety of high school living with undiagnosed Chiari Malformation and was diagnosed about two months into my freshman year of college- by that point, I had switched from being followed by a pediatric neurologist to being followed by an adult neurologist (who also happens to be my favorite out of everyone I’ve seen). Before switching to an adult neurologist after graduating from high school, I was referred to several specialists and medical centers in the region, but none of the MRI scans showed conclusive signs of Chiari Malformation, so I couldn’t receive an official diagnosis.
So what did you do without a diagnosis?
When filing for disability accommodations or talking with other support staff, I would say that I had suspected Chiari Malformation, and that I was waiting for an MRI to confirm the diagnosis. Since I also have low vision, I was able to receive disability accommodations through an IEP in high school and a Disability Services file in college and was able to receive additional modifications or accommodations that related to my Chiari symptoms. Even without an official Chiari Malformation diagnosis, I still had chronic migraines and diagnosed photosensitivity, so I was able to talk to my teachers and professors about minimizing flashing lights in the classroom, alternative seating arrangements, and taking virtual/hybrid classes.
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How is Chiari Malformation treated?
There is no cure for Chiari Malformation, though there are a few strategies that can help with symptom management. This can include medication for individual symptoms (i.e migraines), physical therapy, pain management, and similar interventions. Some people living with Chiari Malformation may be candidates for Chiari decompression surgery, also known as posterior fossa decompression, though this may not be necessary for people living with mild symptoms.
Since I am allergic to many types of medications used to treat Chiari Malformation (along with a common inactive ingredient in several medications), I manage my Chiari Malformation symptoms with a few different strategies, including:
- Massage therapy
- Acupuncture (to control shoulder/back spasms)
- Postural Restoration physical therapy
- Gentle exercise
- Short-term medical treatments such as Botox for cervical dystonia (a component of Chiari Malformation) and trigger point injections for occipital neuralgia (another component)- these are done by my neurologist
- Assistive technology tools for mobility, vision, etc
- Living an otherwise healthy lifestyle- eating healthy/regularly, drinking water regularly, being involved with my community, etc
None of these items alone are a “cure” for Chiari Malformation, but they all help a lot with symptom management. I was referred to local practitioners for massage, acupuncture, and physical therapy by my primary care doctor, and have noticed a tremendous difference with my day-to-day functioning.
I received an assistive technology assessment as part of a case file with the state unit for visual impairment. Living with Chiari Malformation inspired me to study assistive technology, and one of my primary research interests is using assistive technology for chronic illness- I share several resources on this topic on my website.
What foods help Chiari Malformation?
There is no diet or food choices that make my Chiari symptoms better or worse, so there is no Chiari Malformation diet or anything of the sort- though I have noticed a few issues with drinks. Anecdotally, I remember as a kid feeling like carbonated drinks made my head start pounding or would make my headache worse, so as a result I avoid sodas and carbonation. I also avoid drinking alcohol.
Outside of Chiari Malformation, I have several food allergies, one of which is a caffeine allergy, and the headaches from eating/drinking something with caffeine are very disorienting and can make Chiari symptoms seem worse.
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So what is it like living with Chiari Malformation?
As part of living with Chiari Malformation, I have to manage my symptoms every day in different ways, whether that is making sure I have places to rest or sit down, avoiding strobe lights, or using mobility aids or transportation services to get where I need to go. That said, I’ve still managed to do a lot of things while living with Chiari Malformation, including:
- Participating in several band programs, including two years of high school marching band, and qualifying for advanced band programs at the local and district level- including being invited to audition for all-state band on two different instruments
- Going to my junior and senior prom
- Graduating from high school with an advanced diploma
- Being accepted to and attending my dream school, George Mason University, and living on campus
- Graduating with a degree in Computational and Data Sciences, with a minor in assistive technology from GMU
- Studying for a Master’s in Education in Assistive Technology through the online M.Ed program at GMU
- Interning at Microsoft as a program manager at their office in Redmond, Washington
- Living with roommates
- Traveling to several places around the United States, including Austin, Reno, San Diego, St Louis, New York City, Louisville, Atlanta, Knoxville, and many more- including by plane, train, and car
- Creating a website dedicated to educating people about low vision and assistive technology that is read by people and organizations around the world
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More resources on how I explain Chiari Malformation
- NIH information is shared from Chiari Malformations | National Institute of Neurological Disorders and Stroke (nih.gov). The previous Chiari Malformation fact sheet is no longer online
- I refrain from using terms such as suffering, plagued, battles, or debilitated by, because I don’t want to make my disability sound miserable or tragic and don’t want people using that language to describe me
- Looking for advice on how to navigate medical environments? Read Supporting Patients With Low Vision In Medical Environments
- While I have no preference for person first vs identity first language when it comes to disability, I typically use person-first when talking about Chiari- I am a person with Chiari Malformation
- Want to read more about Chiari Malformation? Visit Chiari Malformation Archives | Veronica With Four Eyes (veroniiiica.com)