This is all very interesting to me… I’m new here! Not sure if EDS is our family’s issue but we have been in search of a diagnosis for my nearly 11 yr old daughter for 5 years now. My reasearch always seems to bring me back to EDS somehow. She tested negative for Morquio A & B and is waiting on testing for SMD Kozlowski type and Brachiomalia by the International Skeletal Registry at Cedars-Sinai. But we have been waiting since June for that and am so tired of all the waiting overall. What’s interesting about this post is that her father had issues with ‘skin writing’ as a child and earlier this year suffered a ruptured aorta and lived to tell about it. Chloe’s has been checked and seems to be fine so far but she did show an irregular heart beat. Her dad has not had any genetic testing but they suggested he may have a connective tissue disorder; Marfans doesn’t seem to fit him or Chloe but my other daughter’s wing span is 2 inches longer than her height. She is 13 and does not have any skeletal issues but does have some hypermobility of her joints and sensory issues. Back to Chloe… it was 5 years ago that I took her for a back xray because she was complaining of back pain. The Dr. called me in to show me the xray and said that she had platyspondyly and should be seen by a geneticist. She has seen all the “ists” and we still don’t have a diagnosis. Prior to the xray she had been in P.T. for hypotonia and gross motor issues and was in speech therapy as well. She had and still has an ackward gate, esp when she runs. She has mild scoliosis, kyphosis, lordosis, genua valga, short femoral necks, flat feet, myopia and hypermobility of her joints. She has eczema and does not seem to have stretchy skin, perhaps a little in her neck. She tires easily and gets out of breathe quickly. Her inteligence is above average; she get’s A’s and few B’s and is in the gifted program in school. However she is very forgetful and unorganized to the point that we are questioning ADHD. The past year or so her behavior has become increasingly challenging with a very low frustration tolerance. For years she has had issues with excessive thirst and heat intolerance. Lately she has been complaining of feeling dizzy and seems to be having hot flashes.
Bloodwork shows slightly low free T4 at .83 and normal TSH at 1.98 and endo is not concerned. Thyroid anti-bodies are neg. (Thyroid disease is rampant on my side of the family though.) Other bloodwork shows low carnitine, low creatinine, low bilirubin, high bun/creatinine ratio, low globulin, high alb/glob ratio, high phosphorus and high MCHC. A mucopolysaccharides screen (MPS) showed a high level of 19.6 but with a normal pattern so her Dr. was not concerned. Most else seems normal. Sorry this is so long… do you see her fitting the EDS criteria enough to warrant testing?? If so please point me in the direction of anyone doing research as I’m a single parent and her insurance does not want to cover these genetic tests. I’d be happy to email or fax labs, reports and photos if anyone is interested to see. I did attach one photo from March ’07 because it shows the rounding of her spine and how tired she gets. Thank you for reading all this… so glad I found you!! P.S. I forgot to mention… both my girls are allergic to sulpha!