With Deborah's permission, I just wanted to let people know that one of the doctors I see is interested in perhaps initiating some research into why so many people seem to be finding themselves with some kind of mast cell disorder, a family history of joint pain and/or hypermobility (Hereditary Disorders of Connective Tissue, Ehlers Danlos Syndrome, JHS, other collagen disorders), as well as autonomic dysfunction (POTS, NMH, fainting, etc.).

If anyone would like more information about this or would like to participate, please contact me and I will email it to you.

I hope I posted this in the right place.

Sure!  I just didn't want to go on too much about it, as it is not exclusively about masto stuff (well it may turn out to be...).  I have been seeing a geneticist up here in Canada named Dr. Alasdair Hunter.  Unlike many other doctors I have seen over the years, he has been very kind to me, has read the medical reports and studies I have brought to him, and has listened carefully to what I have to say.  I have told him that I keep encountering people with masto, dysautonomia/POTS and familial joint/connective tissue issues, and he agrees that this is unlikely to be a coincidence.

Dr. Hunter has a colleague up here who has funding to look into the genetics of rare diseases, and he wants to look into whether they might do a project on us.  He has asked me to gather case reports from others I have met who have this triad of conditions and I agreed to try.  He suggested that we try to do so in some kind of standardized format, so I have written an info email and a suggested format and would be happy to send them to anyone who would like more info or would like to participate.  At this point we are just trying to demonstrate that there are a bunch of us out here, there is no official research project yet, but we have to start somewhere.

I have told Dr. Hunter that many interested people may not have official diagnoses of all three conditions since they are so hard to recognize and diagnose.  He understands this but would still like to hear from people who suspect they fit.  I have also spoken with Dr. Francomano about this and she has put me in touch with another patient of hers with all three; she and Dr. Hunter know each other and will be communicating about the project as well.

So nothing is for sure yet, and even if it does go ahead, it will be a long, slow process I imagine.  Not likely the kind of thing to magically cure us in the near future, but I see it as some hope when I get worried about my kids.  Please let me know if you want me to sent the documents I wrote - just PM me your email address if you are comfortable doing so and I'll send them to you.

Sarah

Hi Sarah,

Let me know what you find out.  I have the fainting and masto, but no joint problems.  However, my mom has RA and osteo-arthritis pretty bad.  I was test for ANA, nothing.  Rhematologist said I won't get the RA (thank God!).

Oh BTW Lisa... hey girl.. chin up on that cure thing.  You just never know when a breakthrough will happen!  Of course I have to be a crazy optimist, working in research like I do, but I think one day somebody is going to blow the lid off this thing, so I'm not ruling out seeing a cure just yet