I just got off the phone with my doc's office, and they told me "the test results were negative and no mutation was found." I haven't received my copy of the results yet, and I don't know how extensive the testing was (just SCN9A or more - hoping the paper copy will have details).
Strange it may sound, but I was hoping they'd find it, so I could stop worrying about the possibility of scary underlying disorders coming to light.
I'm still left with the circumstantial evidence of family members having similar issues (Mom with constant "hot feet" and brothers with Raynaud's) pointing to a familial cause, but no hard proof. This may support the idea that there are other mutations that can cause EM (although, obviously, there are countless other factors that could play a role - lifestyle, previous medications taken, environment, etc.) So here I stand, near square one. Oh, well.
I don't know if there'd be any benefit in going to the Mayo, and my insurance wouldn't cover it, so I probably won't. (I'm guessing it would cost an arm and a leg for one appointment - hey, maybe they'll accept feet!)
Anyway, I wanted to let you all know that the studies' results have begun to be available (at least, for the earlier spitters). I hope those of you who have participated get whatever information you are after.
I am sorry Libbyk . It must be quite the let down to not get the answer you were looking for. Yes. If only they could say...there it is! That is why it is happening! That would be one less thing to worry about even if it doesn't come with cure. At least you wouldn't have to keep looking for that underlying cause. I guess there is still that chance that is can still be genetic and they just don't know yet about that particular gene. Strange that you have family members with similar problems. If not an unknown gene there is that environmental possibility you mentioned that would explain your family members also having symptoms.
Libbyk-Look into a tertiary center like Mayo, as you mentioned. Depending on your insurance, it may not be too horrendous(and could even be covered 100%. I would find a provider who understands the disease and can make an informed decision as to what you are struggling with. If having a diagnosis brings you peace of mind (and it certainly would me) go see someone there! You likely have had all preliminary, outside testing performed and can being that with you. Your insurance company could tell you very quickly. Not having the genetic mutation is a good thing!! It means a better prognosis for you-if it is definitely EM that you have. I understand wanting a definitive diagnosis, though.
May God comfort you through your struggles,
Jenny
Thanks, Jenny - I actually have been diagnosed. I was hoping for concrete information about the cause being genetics, since I have compelling family evidence (but no actual nail-in-the-coffin proof). Also, I know that my insurance does not cover anything at the Mayo - I live in MN and my insurer excludes Mayo completely (to, supposedly, make premiums lower all around). You'd think that living near the place would behoove one in going there... lol. Going in for one appointment and a few tests would knock out my savings (and beyond, potentially). I don't believe in any gods, but thanks for the sentiment.
Jenny Jones said:
Libbyk-Look into a tertiary center like Mayo, as you mentioned...
Where do you live Libby? Mads gave me the name of a doctor in NYC where I live who knows about EM and he takes lots of insurance...even my awful one from the University which NO ONE takes, I am going to see him on June 6th. I will report back but here is his name - Mads is the one who gave it to me again....
Joseph Jorrizzo
Columbia Presbyterian Hospital- Cornell Medical Center
1305 York Avenue (at 70th Street)
Phone 646 -■■■■■■■■
Here is the link to his information and the insurance plans he takes. He sounds like the most impressive doc I will have seen over the past 20 months trying to get a diagnosis
At present the only gene known to be linked to primary erythromelalgia is a gene called SCN9A. Xenon are therefore only testing for this variant. However, on a positive note, the DNA may also be used to identify and find other variants that may be related to erythromelalgia. I , for one,believe that other variants exist. I am thrilled that this study has given the EM community some semblance of hope. Whatever the results - research is being done, our voices are being heard. This landmark Xenon study will definitely open the door for further research. Awareness has been raised - lets all pray for some massive funding !