Hi Heather-

I was diagnosed clinically and by reviewing several generations of my family medical history, by Dr. Clair Francomano in Baltimore.

I am far from an authority on the subject of Stickler Syndrome, but there is a Stickler Society at www.sticklers.org, on which they have photos of some affected people.  I am typical of neither EDS nor Sticklers, but apparently have features of both:  joint hypermobility (but not the joints measured on the Beighton scale), very soft skin, a high palate, near-sightedness, family history of high freqency hearing loss, POTS, etc.

It seems like my features, along with my family history, create a pattern, but with these unusual HDCTs it takes someone with high-level expertise like Dr. Francomano to sort it out.  However, when I look at the patient experiences of those with EDS, I have no doubt that I fit into the family somewhere.  Personally, I think there are probably many people out there with more subtle manifestations of collagen defects and only the glaringly obvious EDS types get diagnosed (if even they do).  But based on my converstations with Dr. F, I think the HDCT is an important part of the whole picture - for instance, she has observed that HDCT patients are more likely to also have autoimmune disorders...

I saw two local geneticists, one before and one after Dr. Francomano.  The first one was very nice, but did the routine EDS exam and told me I don't have it (and she's right, I don't have any of the known types).  However, once I had the report from Dr. F, another geneticist became interested and examined me (and also my mother, who happened to have driven me).  Now they think I might have a collagen defect on both sides of my family, which apparently would help explain the degree of difficulty I have with pain and POTS.  My new geneticist is thinking of recommending me for genetic testing with a rare disease program up here, and wanted me to try to find others with the HDCT/POTS/MCAD triad of diagnoses/disorders.

Based on my experience, if you think you might have an HDCT, I would strongly advise seeing someone who sub-specializes in collagen defects, or if not, taking the opinion of other geneticists with a grain of salt.

Sorry I can't be more help about Sticklers though; I have been thinking of emailing someone at the society and asking if they have trouble with POTS and mast cell stuff too.  I'll let you know if I find anything out-

Sarah