"I can bring hope to those that are just being diagnosed and to the parents of kids younger than me to show them that there is hope for their future"

My name is Katie Seykora and I have two rare diseases—Chiari Malformation and Rhombencephalosynapsis (RES). Chiari is the easiest to describe; your brain is too big for your head, so basically my brain was going into my spinal cord. Rhombencephalosynapsis is where your cerebellum doesn’t form properly. A normal cerebellum is split into two halves whereas mine is partially fused together. The symptoms that I dealt with related to RES were my poor suck/swallow and failure to thrive when I was little. I still deal with eye problems, sleep apnea, and head rolling/rocking., But honestly, it's hard to know which symptoms are actually related to my RES since it's so rare and so little is known about it.

What does your daily life look like?

I’m lucky because my rare diseases haven’t really limited me, nor have I allowed them to, and I am able to have a job. In February 2020 I started full-time as a General Office Assistant for the State of Michigan Department of Treasury within the mail room.

The only difference in my daily life is that I have more appointments than a normal person, and I have to deal with being very tired all the time. My additional appointments are usually for monitoring my conditions, testing, and receiving medications a few times a year that have to be given by a medical professional. I try to make my appointments late in the day since most of them are in Grand Rapids and I also go to physical therapy after work.

What was your diagnosis process like? Were you ever misdiagnosed?

I don’t remember the diagnosis process for my Chiari since I was so young, but I do know that it took five years, countless tests, and many misdiagnoses. I honestly don't even know how many misdiagnoses I have had over the years; there have been so many. As for the RES, I actually diagnosed myself, as crazy as that sounds. I found the term on an MRI report which led me to Google. Google led me to a research center that I sent my MRI to and they confirmed that I do I’m fact have RES. The research center then led me to Dr. Caleb Bupp at Spectrum Health.

What kind of treatments are available for your disease? Have you been able to receive any of them?

For Chiari the treatments available are medications and a brain surgery, commonly referred to as a decompression, to help manage the symptoms. I had the surgery back in 2000 shortly after being diagnosed but haven’t had much success when it comes to medication. As for my RES, there is no treatment since it’s so rare and everyone with it is affected differently. Luckily, mine isn’t that severe compared to others, however, I’m currently receiving physical therapy, trigger point injections, and Botox.

Have you found a supportive community? If so, how?

I have found a supportive community through Facebook groups. I am a part of multiple national Chiari pages, as well as a Michigan page. There are tons of pages for Chiari online but I've only found one for RES (which is a national page). I have also attended awareness walks for Chiari and have become close to another local Chiarian’s mom.

What is the hardest part of living with a rare disease?

The hardest part of living with a rare disease is the fact that it is so rare. Because of this, it’s hard to find someone that knows what it is, yet alone understands it or can treat it. Having two rare diseases just makes it that much harder.

Is there anything good that comes with having a rare disease?

The only good things is that I’m able to bring hope and awareness. I can bring hope to those that are just being diagnosed and to the parents of kids younger than me to show them that there is hope for their future. Also, I’m able to make people more aware of rare diseases and the fact that they exist. I've participated in awareness walks for Chiari within two different organizations and have been to a few Rare Disease Network events. I would love to do something for RES, but unfortunately nothing currently exists.

To learn more about Katie and her story, visit: https://healthbeat.spectrumhealth.org/shes-tenacious-rare-disease-rhombonencephalosynapsi-res-geneticist/