I have decided to do genetic testing for Ehler-Danlos Syndrome, even though I know that EDS Type 3 (Hypermobility Type) doesn’t have a genetic marker. However, when I look at the list of typical symptoms for classic EDS, I have a lot of those too, so I want to be sure I don’t have that one. I do fit EDS Hypermobility Type far better, but I want to know for sure.
So I called my rheumatologist, who had mentioned giving me a referral to a geneticist if I wanted to pursue testing. He sent a referral over to the geneticist and when I got the phone call, I find out they are the ONLY adult geneticist in the entire state of Colorado! Because of that, the wait to get in is obscene. I am on the calendar and now I’m on the wait list, just in case an opening appears.
August 7 of 2017!
Yes, NEXT YEAR! I have to wait 14 months to see the geneticist.
I was hoping to know for sure about the EDS thing before starting a family. However, I do officialy have the joint hypermobility syndrome (JHS) diagnosis, and according to many websites and resources online JHS and EDS-HT they are the same thing. On hypermobility.org, a website run by a UK association, they have a lot of resources for family planning. I will just have to print out these resources and take them to my OBGYN, I suppose, and really just lead my own care in this regard. This is also going to include being far more bossy than I normally am about my care, which just isn’t in line with mine or Dan’s personalities but it’ll be best for me AND my baby so I’ll just have to do it.
How do you think is the best way to go about saying “EDS-HT & JHS are essentially the same thing” to doctors that are treating me? I feel this is important for multiple doctors and something I need to be able to discuss with them prior to 14 months away from now…