Hello fellow bleeding disorder friends.
I was diagnosed with severe Von Willebrand’s Disease in 1990 & Platet Storage Pool Deficiency in 1997.
I identified as a Hemophilia treatment clinic patient for 2 decades -receiving Stimate, Lysteda, Humate-P, Iron Dextran infusions ad nauseum-until a VERY sharp HTC nurse identified criteria consistent with “something more” & referred me to a geneticist in 2010. After my severe Classic EDS diagnosis, 4 more relatives were identified with severe EDS, 2 with moderate, 1 with mild. Identification of EDS was the crucial element to getting referrals to the specialists needed to treat the debilitating co-morbidities that came with the defective connective tissue diagnoses. I am now 3 months post-op from a Chiari Malformation decompression & fusion of my skull to C1 & C2. The associated osteoporosis is being successfully treated, I am scheduled for C4-C6 fusion in June, I am receiving treatment for Dysautonomia/POTS, and I am receiving specialized EDS physical therapy targeted at my loose joints.
None of this would have been possible without my Hemophilia Treatment Center doctors & nurses!