Saturday, September 12, 2015

Please read and SHARE! Be the AWARENESS! Chiari malformation- AJ and Alexa's (rare) story!

"I consider my kids to be very lucky. Not all Chiari Kids or Adults get diagnosed in a timely manner. Many can be misdiagnosed for years, leaving the patient with permanent deficits and issues. Some need to travel states away to find a doctor that can diagnose and treat them appropriately."

Meet AJ and Alexa!  These kids have had 25 surgeries between them already, but they are still smiling!!  These cuties have Chiari malformation, but they do not let it slow them down!  Learn more about Chiari below, and don't miss our other Chiari story: "Misdiagnosed until adulthood, a Chiari story".

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!  

Read more about Chiari with these links:
Conquering Chiari


Our Chiari Story….

In 2004, when AJ was just three years old, he was diagnosed with both Chiari 1 malformation and Hydrocephalus.  The doctors told me that without treatment he may not live.  AJ appeared normal.  He was a very smart, happy toddler.  By fall that year AJ had already had 3 surgeries, and shortly after that, at just 12 months old, Alexa started to get sick.  During this time I was tested and confirmed a Chiari 0.  FINALLY I had some answers for my headaches, but it was nothing that could be fixed.  In the summer of 2005, Alexa was able to get her testing done, which resulted in her first surgery in New York.

AJ and Alexa have had a total of about 25 surgeries in the last 10 years.  Of those 25 surgeries, 18 of those were brain surgery for AJ, and 2 of them were brain surgery for Alexa.  

So what is Chiari? A neurological disorder where part of the brain, the cerebellum (or more specifically the cerebellar tonsils), descends out of the skull into the spinal area. This results in compression of parts of the brain and spinal cord, and disrupts the normal flow of cerebrospinal fluid (a clear fluid which bathes the brain and spinal cord). Brain surgery is NOT a cure, it is a treatment.

AJ, Alexa, and I stay in close contact with their Neurosurgeon so that hospital admissions are kept to a minimum and the kids stay as pain free and active as possible. While both AJ and Alexa have the same main condition they both differ in some of their secondary conditions. Because of AJ’s Hydrocephalus, he has had many more surgeries than Alexa and he is more cautious with his activities. I have been asked many times about “Why don’t you try to put your kids in a bubble?” or “How can you let them do those activities?” I think their surgeon is to thank for how active my kids do like to be. When this all started he asked me…. Do you want your kids to be as close to normal and happy as possible and do as much as they can, with some restrictions, and chance that they might need brain surgery or other surgeries again… Or do you want to completely restrict them, not let them be kids, have them hate their lives, and still have the chance that they will need more surgery? He told me that he would go along with whatever option I chose. I of course chose happiness.

AJ, now 14 years old, remains cautious and loves his video games, but he also loves being outdoors. He loves learning new things and strives to make everyone happy. He works hard in school and is an extremely smart kid.

Alexa, now 11 years old, is much more adventurous and is in her 2nd year of Cheerleading. She has also started running with Girls on Track and The Healthy Kids Running Series.

Do they have bad days? YES! Do they quit and say they just can’t do this anymore? NO! Alexa got sick before one of her runs last season. She took some medications, told me to get her out of the truck before it was her turn to run, and she ran the fastest time she had all season! I personally would have just gone home and went to bed instead! AJ will go thru an entire school day and wait till I get home from work, before I find out that he is really sick and needs to see his surgeon right away. These kids are tough.

I consider my kids to be very lucky. Not all Chiari Kids or Adults get diagnosed in a timely manner. Many can be misdiagnosed for years, leaving the patient with permanent deficits and issues. Some need to travel states away to find a doctor that can diagnose and treat them appropriately.

I encourage everyone to look up where their local Conquer Chiari Walk Across America site is located and check out some of these amazing kids and adults. This year the walk is held on Sept. 19th, 2015. You can look for a walk location, register to walk, or make a donation at If you are in the Lancaster area our walk will be at the Lancaster County Park Pavilion 22 on Saturday, Sept. 19th. Check-in starts at 10:30 and the walk will step off at noon. The walk is family (stroller) and pet friendly. We will have a DJ, face painting, kids crafts, and LOTS of raffles and food to purchase. We are only able to accept cash or check the day of the event but you can make donations online via credit card. AJ & Alexa’s team is called the Purple Minions so feel free to register to join them.

Find more information about the walk at:

and for our locals, here is our branch
Lancaster Chiari group

Dont miss our other Chiari story "misdiagnosed until adulthood".

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