After 24 years of searching, countless genetic tests and doctor appointments, I was given my diagnosis of kyphoscoliotic Ehlers-Danlos syndrome-FKBP14 variant (kEDS-FKBP14). That day, I not only got a name for the condition that plays such an immense role in my life, but I got a tool: I got a name, a word, to help me have renewed hope that I would be able to find others like me.
I went home that day and created a Facebook page, in hopes that others were receiving this same diagnosis and searching the internet for others. It took a few months, long enough that I forgot about the page, but then, I got a message. That message opened up a door to a whole new world for me, because I found another family, and someone else like me.
Living close to 25 years feeling strange and different, it is an absolutely mind-blowing experience to then suddenly find someone else who looks SO similar to you, someone that can say “oh yes, I have had that too”. We talked for hours, comparing stories, and it was incredible. Since then, the Facebook page has found 10 others, and we have a group chat that we all use to talk amongst each other. Every time the group interacts with each other, I am still in awe. To see moms and dads sharing stories about their children, or asking for help and immediately receiving 3-5 different answers to their questions, I can’t help but think of my mom who so badly wanted something like this when I was younger, and to know how incredibly special it is that this new generation of EDS kids have parents that CAN share information.
It has also helped me immensely to have a few women my age or older that have the condition, because I have been able to ask questions myself, and I get real answers back, not an answer from a doctor who has to say “there is no research, we don’t know”. As an adult looking back, I don’t know how my mom managed to do so much without any other support, because there were no other families for her to relate to. One of the most exciting things that has come from all of this was that we have had families start to try and meet each other in person. One family in Texas wanted a second opinion from a cardiac and genetics standpoint, and I offered to reach out to my pediatric genetic counselor Allison. A few weeks later, my mom and I were able to meet this family in Chicago, and it was one of the most special moments in my life. I had never met anyone like me, and neither had their 6 year old daughter Ingrid! Our moms were able to talk “mom-to-mom”, and I was able to talk to Ingrid too. Knowing that she would grow up aware that she is NOT alone was incredible. My heart was so full!
Using my story to teach others how to advocate for themselves or their children has been the greatest gift and a source of joy in my life. Because I have Hydrocephalus, Scoliosis, kEDS-FKBP14 , Thoracic Outlet Syndrome, and CRPS, I have had many months spent in the hospital, and close to 30 surgeries including 3 spinal fusions and 12-13 brain surgeries, among others. I feel very grateful to the nurses, doctors, and surgeons, (really the entire hospital, and ALL their staff!) who have cared for me over the years, and I have been trying to give back in any way I can. I mentor children at Lurie Children’s Hospital through their program called PeerWise, where I am able to help kids prepare for surgeries or help them manage growing up with chronic conditions. This has been an empowering way for me to volunteer, because I realize how much a few words can mean to a little one going through big scary things, or to a parent trying to help their little one manage things so much bigger than themselves.
As I have grown up, I realized the power that words have, and that sharing my story can help others learn how to advocate for themselves too. I wrote a story that helped share how important genetic counselors can be to help manage your conditions, and this won an award for my genetic counselor Allison Goetsch, who won the first Code Talker Award at the NSGC conference in Seattle. We both also shared our story at the Global Genes Rare Patient Advocacy Summit in Irvine, CA. I have been through a lot, and I wouldn’t wish it on anyone, but I hope I can continue to find ways to share my story and to help others, because without advocacy there is no way to help make positive change.
