Mast Cell Disorders Forum

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http://mastcelldisorders.wallack.us/yabb/YaBB.pl General Mast Cell Disorders Discussion >> General Mast Cell Disorder Discussion >> Research into masto, dysautonomia, HDCTs http://mastcelldisorders.wallack.us/yabb/YaBB.pl?num=1305415572 Message started by Sarah4 on 05/14/11 at 12:26:12

Title: Research into masto, dysautonomia, HDCTs
Post by Sarah4 on 05/14/11 at 12:26:12

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.

Title: Re: Research into masto, dysautonomia, HDCTs
Post by Lisa on 05/14/11 at 15:08:40

Hi Sarah!

I'd like to know about this. Can you put a bit more information here for others to see?

Lisa

Title: Re: Research into masto, dysautonomia, HDCTs
Post by Sarah4 on 05/14/11 at 16:46:21

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

Title: Re: Research into masto, dysautonomia, HDCTs
Post by Lisa on 05/15/11 at 01:12:09

Sarah,

Anyone who understands research already knows that the hope for a cure doesn't exist yet, which is why they are doing research on something in the first place. What researchers are trying to do is to find UNDERSTANDING. Before you can fix something that is broken, you must first find out what is broken! In medicine, to find out what is broken, you must conduct studies searching for what is out of order which may be causing that thing to be broken. Once they can find that thing, they can then work at studying it in order to fix it. Researchers and doctors are totally blind and they use research as their eyes and hands and through their work, other doctors can begin to see!! So, just in getting the interest by researchers in the FIRST PLACE is VERY important and you've helped to bring attention to something which needs to be investigated and research!!! GOOD GIRL!!

So, I, for one, already know, there won't be a cure for me, however, if the doctors can learn from me and find a means to figure out what is wrong with me, then it means that I have hope for a cure FOR MY SON or GRANDCHILDREN and THIS IS MY HOPE!!!!!!!!

I'm already in a study on my hereditary aortic aneurysms, and my prayer is that they'll find a way to keep either my kids from developing it or my grandchildren!!! This is what research is all about! Selfless giving of yourself so that hopefully a cure will be found for future generations!!

Title: Re: Research into masto, dysautonomia, HDCTs
Post by jbean on 05/15/11 at 04:22:08

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 ;)

Title: Re: Research into masto, dysautonomia, HDCTs
Post by Lisa on 05/15/11 at 12:00:10

No fear, Jilly, I've not given up hope, I'm just not pinning my hopes on a cure. I want one, who doesnt'? But I'm not going to get all depressed if our researchers can't find one within our life time. I'm a very practical woman and you won't see me crying over spilt milk!! :)