Research study

Has anyone here been involved in a research study? I have been accepted into the Undiagnosed Diseases Network for a research study next year. They are going to test all of my genes and do another nerve biopsy, along with some other tests. I’ll be seeing several different doctors. I know they can’t promise me an official diagnosis, but it’s the most hopeful thing that has happened to me since I have developed EM and Raynaud’s. Just wondering if anyone here has done this kind of thing, and did it help you? I am hoping it will help me and I also want to be helpful to the doctors who are researching rare diseases.

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How did you get into the study? I wish you best of luck and I hope they will find the cause or at least the treatment for this unbearable disease.

Thank you! My hematologist read about the UDN and told me I should apply. Doctors cannot recommend anyone for the study; you have to apply yourself. But you need to have a doctor’s letter along with all of the tests you have gone through, detailed family history, etc. The UDN is with the National Institutes of Health. I have been corresponding with them for several months and am so relieved they finally accepted me. I had all of the tests they required and they have all been inconclusive, so technically, I have an undiagnosed disease. However, as my neurologist told me, all you have to do is look at my feet and hands and it’s obvious I have EM. We’re just trying to find out if there is an underlying cause or not. It will be interesting to see what all they are going to do. They have already been in touch with my parents to get their blood work for genetic testing. So exciting!

Wow, it sounds like they are going to conduct a serious and thorough study, they even involve your parents.

Please keep us updated with your progress and fingers crossed for the good news to come. I can’t wait to see an article with the title “Study found a cure for patients with erythromelalgia”

I do like the sound of that!

Where in the world do you live. I get no support or help apart from them offering me drugs. I have my been referred to anyone and there seems to e little knowledge about EM where I live.
Who have people seem specialist wise to get some support?
I really hope you get some positive news grin the tests and studies that you can share. Wishing you the very best of luck x

Thank you! I live in Texas. I really hope the UDN can offer some help, because my doctors are all out of ideas and they are ready to send me to a pain management doctor. I have been seeing a hematologist, neurologist, rheumatologist, and a cardiologist. Even between all of those doctors, there is not much knowledge about EM here. They have only seen a handful of EM patients besides me and they were all cases that responded well to aspirin. I am reluctant to see a pain management doctor because I am afraid I will end up addicted to pain meds. I am doing all I can to tolerate the pain for now, but it is definitely getting worse.

Update: So I participated in the UDN study in April. It was an amazing experience! I saw a hematologist, a rheumatologist, and a neurologist. They spent so much time with me. They had only seen 5 cases of EM in their study so far, all of which seemed to have been caused by a mutation in one of the following sodium channel genes: #9, 10, or 11. They were intrigued by my case because I don’t have a mutation in any of those genes. Now they are combing through all 23,000 of my genes over the next few months in order to find another gene that could be linked to EM.

The doctors wanted to have a video of a flare-up, so I brought my hairdryer with me. While my husband blew the hairdryer on the palm of one of my hands, they just oohed and aahed as it turned bright red. They had never seen anything like that before! (I’m sure everyone with EM can perform that same magic trick, unfortunately!)

Anyway, it will be interesting to see what they come up with in their genetic studies. In the meantime, they had some suggestions of some medications for me to try. I am now taking Tegretol - of course, no results will be evident for several months, since I have to start at such a low dose. The neurologist thinks my frequent headaches/migraines are related to having primary EM and the Tegretol could at least help with that.

Anybody else have any luck with Tegretol?

Hi Marci,

I’d be very curious to know if your docs / researchers come up with any genetics stuff! I too am negative for the sodium channel mutations, but my dad + brother’s ears flush + burn nightly so I’m inclined to think something genetic is going on…

GLad you had a good experience with the study.

LOL re: your “magic trick” description. For some reason I think it’s totally different for doctors if they literally see it happening in real time (they seem much more interested/concerned) vs. just seeing pictures vs. me just explaining what flares are.

(haven’t tried tegretol, but know a couple ppl on oxtellar from other forums, who say it’s very helpful for nerve pain but can be hard on the body… good luck with it!)

Thanks for the good wishes! So far I am just dealing with side effects of Tegretol, though I am sleeping much better. Only on 800mg per day right now. Not sure how much higher I want to go because of the side effects.

It does sound like something genetic in your family, doesn’t it? I just hope mine isn’t genetic. I worry about my daughter getting it.

Hi Marcy, just wondering how the study went and have you gotten better?
Take care