NFT: Ehlers Danlos Syndrome

Let's get this out of the way first...Yes, we have seen 2 doctors and are waiting for an appointment with a geneticist for testing. Yes, I am doing research. But, I was wondering if anyone here is familiar with the disorder and/or knows someone with it.

The background is my oldest, now 9, has been diagnosed with low muscle tone and sensory issues for several years now. He receives OT and Pt every week. Last year we recognized sever pigeon toed walking, particularly when he was tired. This is actually what prompted the evaluation for PT and resulted in the addition of these services. A month or so ago the PT suggested we see a podiatrist or orthopedist; she thinks it is related to a weak ankle joint.

The podiatrist, last week, said he could make orthotics (the suggestion of the PT), but not before he saw an orthopedist for a full evaluation of his leg from the hip to the foot. He said the hip felt tight. The PT had the same observations.

Today, he saw an orthopedist who came highly recommended. The orthopedist said our son had been misdiagnosed for years. He does not have low muscle tone or hypotonia (what the orthopedic doctor thinks others have diagnosed him with, but not a term we had heard previously); he observed him as quite strong even if slight of build. He thinks it is Ehlers Danlos Syndrome, which is a genetic disorder, resulting in, among other things, over elasticity and flexibility in the joints.

That is where we are right now, as we have to wait until late July for an appointment with a geneticist. This syndrome can also manifest itself in heart disorders, which also has me wondering if his atrial septal deviation as an infant was possibly related.

The research and waiting is a killer. So, if anyone has first hand knowledge of this disorder, I would love to hear it.