My journey with the very rare kEDS-FKBP14

Posted February 17, 2019

by Tania C.

I have the very rare kyphoscoliotic Ehlers-Danlos syndrome-FKBP14 variant. (kEDS-FKBP14) The last 38 years have, at times, been challenging. However, I love life and I wanted to share my story in the hope it will be of some help to others.

Very soon after I was born it was apparent that something was not quite right. I was very “floppy”; had low muscle tone; didn’t hold my head up when I should have, or meet the usual physical milestones. I also quickly developed progressive scoliosis. Initially, my parents were given the diagnosis of spinal muscular atrophy and were told that I may not live to 2 years old. Thankfully this diagnosis was not correct and specialists concluded I had a rare form of “lax ligaments”.

Hospital stays and visits, often 200 miles from home, became a part of life as a child. Each time I traveled to the hospital with a little red suitcase full of toys, puzzles, etc. to keep me occupied/terrorize the nurses!

Initially, I got around, as a toddler, by “five-legged crawling” (this was crawling that also involved using my head), walking around clinging onto furniture, and then, at 4 years and just before starting school, I began walking. I wore leg calipers and a back brace. I couldn’t run or play sport but I was the only child who could stand with one leg facing backward, turn their thumb back to front, and easily pull their hand back against their wrist!

The aim was to protect my joints, with the calipers/braces, but also to get my muscles as strong as possible. I guess my mother’s determination was catching, and I was determined to grow up strong! I did physio when I got home from school and weekends were filled with lots of physical exercises like walking the dogs with my Mum, horse riding, and swimming. From a young age, I was also very keen on horses and riding, which terrified my mother. I used to compete and train with the Riding for the Disabled Association. I loved the freedom horse riding gave me.

I finally got rid of calipers when I was 11 years old, after surgery to try to correct my very flat feet, and then my back brace when I was 14, after surgery to correct my scoliosis. By this point my scoliosis had reached 104 degrees.

I was really lucky at school as I made fantastic, lifelong, friends who “got me”. I wasn’t able to walk as far or as fast as them, I walked with my feet turned in, and I couldn’t get out and about like they could. However, they pushed me round when I was in a wheelchair after foot surgery, helped me carry my school bag after back surgery;,and allowed me to copy their school notes after missing lessons for hospital stays.

I was very, very determined and I just wanted to be “normal”. I saw no reason why my kEDS should stop me achieving the same as my friends or what I wanted to do with my life. Thankfully the hard work paid off and, although I missed a lot of school, I still managed to exceed all expectations in my exams. I learned to drive at 17, which gave me independence. I got into University, living away from home without any additional support, achieving a First Class BSc (Hons); then went to Law College achieving a Distinction in both Post Graduate Diplomas. I then moved 140 miles from home to work in Oxford, to undertake my training contract, and qualified as a lawyer in 2006.

I also continued to pursue my love of horses and competed successfully in para-dressage getting a place on the BEF Regional Foundation Squad. Heartbreakingly, I had to give up riding, aged 29 years old, as the risk of falls and complications from EDS meant I could not continue. This was the hardest decision ever and a real low point. But, life goes on.

In 2013, I was formally diagnosed with FKBP14-KEDS, by genetic testing, less than a year after this variant of kEDS was first reported.  It was good to know what “it” actually was.

My spine has progressed since I left school and I now have severe kyphoscoliosis in my neck, however, this has not got worse in the last 4 years. My lax ligaments/hypermobility means my knee cap occasionally subluxes, causing me to fall. I am not very strong. I am still not able to walk far and I am currently better walking outside holding onto someone. I have low bone density and hearing loss, particularly at higher frequencies. I am small, about 5 foot, and I also have long fingers, which rather oddly seems to be similar to others with this condition!

In my life, I have had foot surgery, back surgeries, hip surgery, lung surgery, and have spent three weeks in intensive care.

I would be lying if I said all was always ok. It isn’t, and there are times when I despair and my back causes me so much pain that I don’t know what to do with myself. However, I have learned how to adapt my life so that it suits me, and the good far outweighs the bad.

I found that I was worse if I spent all day at my desk, so I have taken a break from my law career to allow me time to concentrate on physio. Whilst I miss my old job, this really has helped and I rarely need any strong painkillers.

I do have odd “disasters”. Most recently, a collapsed lung and a fall that lead to a broken wrist and a knee injury. I am now walking with a stick (a “trendy” one!) and persevering with physio. However, I know I can get better. I just have to work harder to overcome these challenges and whilst they are not ideal and it is stressful for all concerned at the time, it is just me.

I am happily married and I have an amazingly supportive husband, fantastic friends, and family, all who understand my quirks. I know that there are people who are far worse off than me and I am lucky to lead the life I do. I love my life, and having to deal with kEDS and its challenges has made me who I am today.

 

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