Connective tissue disorders

taryn30

We went to see geneticist and they believe it is some sort of connective tissue disorder. They will run bloodwork. Any thoughts or stories to share? He does have extremely flexible hands and fingers. She said his elbows and knees are extremely loose. They also made a point to tell me his skin is soft. They are running test for fragile x.
Someone told me that connective tissue disorder kids will have problems with eyes and their lungs. Thanks for listening!

realisticdreams

The extreme flexibility is called hypermobility.  DD1 is ehler danlos syndrome which like auntie said is a connective tissue disorder.  It usually has soft smooth skin as well.  EDS Type 3 which is the hypermobility type is a clinical diagnosis. Perhaps they will rule out other dx via lab work before falling back on EDS type 3.  

The first thing they told us to check out when DD1 got her dx was her eyes (we already see eye dr though) and heart (we already see heart doctor..) She does have a lot of coughing issues and meets dx criteria for asthma so we will probably see a pulmonologist as some point (seriously like one of the ONLY docs she hasn't seen yet!)

Does your little one have any pain?  I don't know what your original post was about why you were sent to genetics.

taryn30

Thanks for all your replies. We are waiting to hear back about results of fragile x. I'll keep you posted!

taryn30

I do have another question though. We agreed to participate in a study where they took my blood, husband's, and son's. We won't know those results for at least a year and a half. They do briefed its definitely some connective tissue disorder so should I push to test specifically for ehlers danlos syndrome? Thanks!

realisticdreams

The hypermobility-Type 3 of EDS does not have a blood test for it, it's a clinical diagnosis, when do you follow up with genetics? 

taryn30

They said that they will tell the geneticist team about anything that pops up related to connective tissue but that won't happen for at least a year or two.
I am supposed to call geneticist in six to eight weeks for the fragile x results.
At that point, of course depending on results, what is our next move?

katea826

I know this is a few months old, but depending on age, EDS can be very difficult to diagnose because most kiddo's are flexible to begin with.  I was diagnosed at 19 after years of pain and dislocations.  Feel free to message me with any questions as I am active with EDNF.