Stryder sees the leading connective tissue geneticist worldwide-(in fact, Dr. Francomano is leading the New Center For Ehlers-Danlos Research at Towson Hospital’s Genetics Program in Baltimore) – She had diagnosed Stryder with Ehlers Danlos Syndrome when he was 5 but then took the diagnosis away later because he had too many problems. Dr F believes that he may have clEDS, he does have an variant of unknown significance (actually 2 TNXB variants) and all the signs – or she believes that ROHHAD Syndrome is a new type of connective tissue disorder.
It’s always hard when I hear from her that Stryder has more than EDS (Ehlers-Danlos Syndrome), he is complicated and rare and we don’t know his future. Stryder’s connective tissue is bad everywhere in his body and they are most concerned about his heart at this time.
While some types of EDS do have heart conditions, the type that Stryder has is rare and rather large at such a young age (Enlarged aorta -aortic root dilation and Patent foramen ovale with right to left shunt -“hole” in the heart) and presents itself more like Marfan’s or Loeys Dietz Syndrome, than EDS. He has many other symptoms that show his internal organs are being affected and he can have an aneurysm at any time. Dr. Francomano did say that his pain and dislocations are a kind of good side effect in that it keeps him from running and jumping more. We do not want this to grow as that means he would have to have surgery and with his extremely soft veins, it may not hold or even work.
One of the questions I brought up with the genetic counselor there was a whole body scan. We have scanned stryder’s heart and it was abnormal and also his brain which was abnormal. What about the rest of his body? His veins are weak and cannot hold things together so of course as a mom I am envisioning his body rupturing. The counselor explained it well and said that we know Stryder’s collagen is bad and if we did a scan today and it showed everything was fine, we would have a false sense of security and think everything was fine and that isn’t good. If there is an emergency situation, we have to treat it as though he is having an aneurysm. His collagen is so bad that he can be fine today and not tomorrow, it can happen fast.
Most joints are hypermobile
Hips often pop
Wears AFO’s for severe ankle pronation
Fingers hypermobile with pain in writing
Neck often cracks
Instability in neck C4-C6 (fused O-C3)