TRPS Support Group UK – support for Trichorhinophalangeal Syndrome

Katie’s Story**

I didn’t have any major health problems as a child and am also the first in my family with the condition which is perhaps why I wasn’t diagnosed with TRPS until I started to develop osteoarthritis in my hips at the early age of 31. However, I have the typical short stature, thin hair and nose shape of TRPS and it seems obvious with hindsight!

I was initially misdiagnosed with multiple epiphyseal dysplasia but when I finally saw a genetic consultant he diagnosed TRPS. As soon as I saw some photographs of other people with TRPS, I knew the diagnosis was correct this time because of the similarities in appearance!

I frequently have pain in my hips due to osteoarthritis and have had to stop some of the physical activities I used to do like ballroom dancing and cycling. I struggle to walk very far and have to take medication if I know I am going to have a particularly active day. I have perthes-like changes in my hips and different leg lengths (by approx 1 cm). The only “treatment” that has been suggested is hip replacement surgery when the pain becomes too bad.

I have had some unpleasant remarks made to me over the years about my appearance and some health issues but I never suspected that there was anything “wrong” with me and it was a shock to find out that I have a genetic condition. It has been really good to find the TRPS Support Group and have other people to talk to who can sympathise about these things and offer advice.

** Names have been changed

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