Saturday, September 12, 2015

Please read and SHARE!!! BE THE AWARENESS! -Misdiagnosed until adulthood, Jen's (rare) Chiari story!

"The diagnosis was life changing for me. This was not in a
bad way but in the way that I finally had answers."

Chiari Malformation:

Chiari Malformation is a neurological disorder that results in a disruption of cerebral spinal fluid due to the brain (cerebellar tonsils) descending down out of the skull into the spinal area.

Chiari is sometimes seen with conditions such as Spina Bifida.

Other terms for Chiari are: tonsillar ectopia, Hindbrain herniation.

Symptoms vary, but the biggest symptom are recurring headaches with intense pressure in the back of the head, which is made worse by movement and everyday things like coughing and straining.

Other symptoms include: balance problems, fullness in ears, and chronic pain.

Due to limited research funding, no Chiari genes have been identified so no genetic testing is available.  Originally, Chiari was not thought to run in families. Duke University is now doing a study on 100 families that all have 2 or more members with Chiari.

There is no cure for Chiari; however, surgeries can alleviate symptoms.  The most commonly done surgery is decompression surgery.

It is being discovered that Chiari is less rare than originally thought.  A conservative estimate states that 1 in 1000 people have Chiari malformation.  Finding a doctor who is able to correctly diagnose Chiari is still very rare.  THIS IS WHY AWARENESS IS SO VERY IMPORTANT!
See more on Chiari here:

Sign up for the Chiari walk from the link above!  The walk is on September 19th! 


Misdiagnosed until adulthood, Jen's Chiari story

In April 2014, I found myself sitting in the neurosurgeon’s office at John’s Hopkins University. The surgeon told me she would need to perform brain surgery. She would remove some of the back portion of my skull, my first vertebrae, make a cut into the covering of my brain and put a patch in to make more room for my brain. They would then place a titanium mesh over the area of the removed skull and stitch the muscles together to protect the area. To most people this would have been the worst news they had ever heard. For me it was the best news I had heard in 15 years.

Chiari Malformation is usually something you are born with. For this reason, many children find out young that something is wrong. However, for a growing number of us we do not get a diagnosis until later in life. The reason for this can vary but in my case, there were many symptoms and problems that the doctors could not tie together. There is a lack knowledge about Chiari Malformation by the general medical profession. For this reason I was left to suffer with headaches, neck pain, increased pressure in my brain, weakness, fatigue, dizziness, nausea, adrenal problems, multiple miscarriages, insomnia, and balance issues, just to name a few of my symptoms. I lived my twenties and early thirties feeling like I was living my own episode of Mystery Diagnosis.

When you are a 20-year-old woman complaining of some of these symptoms you are looked at as complaining, dramatic, drug seeking or attention seeking. I was none of these. I was sick but since they could not see it outwardly, they blew me off. Time and time again, specialist after specialist. I was lead to believe I was depressed, and at times that this was all in my head. However, what no one knew was it really was all in my head the whole time.

After several hospitalizations, spinal taps and failed treatments I had a neurologist who kept saying to me that how I described my symptoms I sounded like a person with Chiari. So after one of my Emergency Room visits and spinal taps, he took it upon himself at home on a Saturday, to look at my old MRIs dating back 7 years prior. Sure enough, he found it on an MRI from 2007. It showed a herniation of my brain down into my spinal column. It was there the whole time and no one caught it. This was the cause of my symptoms. My brain was blocking the flow of spinal fluid to my brain. My cerebellum (bottom portion of the brain) was putting pressure on the brain stem. The increased pressure in my brain had pressed my pituitary gland to the point it could not been seen on MRI (empty sella). This in itself had caused me many problems.

The diagnosis was life changing for me. This was not in a bad way but in the way that I finally had answers. When I first met my neurosurgeon, she asked if I was a clumsy kid or if I ever learned to ride a bike or roller skate. When I answered that, I had not learn to ride a bike until my teens and I was always tripping over my own feet or up the stairs. She said that my Chiari Malformation of the cause of this. This was the only thing she said to me that brought tears to my eyes. I felt that my whole childhood was finally explained.

I asked Carrie to be a part of this series not because I was a child suffering a horrible illness but so that my story could possibly help just one child not have to suffer until they were an adult to get a diagnosis. There is no cure for Chiari Malformation, but there is hope that we can live long productive lives with the right treatments. The medical community needs education and research needs to be increased to help find those treatments for us. If you want to learn more about Arnold Chiari Malformation please visit the websites listed. If you do happen to know someone with Chiari Malformation, the best thing you can do is support him or her. Do not feel sorry for them but please show compassion. Chiari is an invisible illness to the outside world but it is definitely alive and not invisible to the person who has it.

Without my husband’s and family’s support throughout the years I may not have had a much different outcome. I am now 1-year post Chiari Decompression surgery and I can say I feel better than I have in many years. September is Chiari Awareness month; please take a moment to spread the awareness.

See a brother and sister's rare Chiari story here:

AJ and Alexa's rare story

These are the faces of Chiari!!!!!


  1. Thank you again Carrie for spreading the awareness of Chiari.

  2. Great story Jen! We are here to support you!