Question
My daughter (21 months) was recently diagnosed with Classic EDS.  We are still waiting for additional testing due to a variation in the 5A1 gene that is confusing and interesting to the genetic counselor.  They have never seen a gene grow this way in an EDS patient so they are testing me and my husband.  My test came back negative but we are still waiting on his.  According to them, the lab is paying for our testing due to never seeing this before in an EDS patient, which makes me curious and also nervous.  The Dr is telling me there possibly could be a new symptom or new type of EDS.  If that is the case, I need to get my child to see the best doctors I can.  We live in Florida and most Dr's I have talked to have only seen 6 or less EDS patients in there 19 or more years career.  So first, would you please send me a list of some suggestions as to who can set us up on the best care plan.  Since she is so young, obviously I want to get the best help I can to make her life easier.  I don't care how far we have to travel.  Her well being is of the utmost importance.  

Also, last week we went for a follow up with the Orthopedic Dr regarding her 10 degree scholiosis.  At that time he told me that having her in braces for her legs was not a good idea.  He said it weakens her ability to build strength in her legs.  She is in them first because she falls causing her to injure herself bad enough to need dermabond glue and also because her left leg turns out just below the knee.  I am so confused because I have the Dr telling me no and the physical therapist telling me yes!  

Any suggestions or guidance you could pass would be greatly appreciated!

Answer
Hi Shannon,

Drs. Clair Francomano and Dr. Nazi McDonnell in Maryland would be my personal recommendations.  Dr. Peter Byers in Washington State is also a top EDS doc and is very likely involved in the genetic testing already.  

Dr Francomano:
http://www.gbmc.org/body.cfm?id=67

Dr. McDonnell:
http://www.grc.nia.nih.gov/branches/lci/nmcdonnell.htm

Dr. Peter Byers:
http://www.gs.washington.edu/faculty/pbyers.htm

As for the leg bracing, both answers are correct.  While bracing does help prevent injury, it also leads to deterioration/atrophy of the supporting muscle.  Muscle strengthens through use.  If you support the joint too much, the muscle weakens.  Also, when you support or repair one joint, the adjacent joints suffer.  It's a catch 22.  You have to balance support and protection against atrophy and physical therapy.  I can't advise you on how to proceed, but I would recommend working with a doctor who actually knows EDS.  

I also recommend getting in contact with the Ehlers-Danlos National Foundation www.ednf.org and the email support groups for EDS http://health.groups.yahoo.com/group/ceda/ .  They online support groups through EDNF and CEDA can connect you with other patients and parents who can share their experiences with various EDS types and symptoms as well as possibly recommending physicians they have personally worked with.