Genetic counseling and gene SCN9A mutations

Dear all,

today I had genetic counseling and gave blood to have it analyzed. More precisely, they are going to analyze whether I have mutatations in gene SCN9A which might explain my EM and hyperexcitability. I should mention that my (twin) brother also had EM-like symptoms in his toes - but only for some weeks during a high stress period several years ago. Other than us I know of no one in my family history to have had similar symptoms. But then the mutation might have occured in our generation first.

Since my nerve conduction velocity is reduced and I have high-arched feet my doctors also want to rule out CMT (Charcot-Marie-Tooth disease) which will be done at the same genetic diagnosis institution.

I am to expect results no earlier than four to six weeks from now, but some of the examinations may take several months. I will let you know if there is anything to report.

In the meantime it would be interesting to know which of you all were checked for SCN9A mutations and to what results.

Greets,

Ben

Hi Ben,
A whole load of us were checked for gene mutations earlier this year when Xenon conducted a trial and offered free testing.
I have just heard, many months later, that I have no mutation.
I will be interested to know how many people tested positive.

Hi,

I participated in the study and they have not fund the mutation that they were looking for and might be causing EM. Xenon Pharmaceuticals has identified another mutation V14281 in the coding region SCN9A gene. They said that they don't know what is significance of this mutation.

My father suffered from feet burning condition, and I am affected by this too. I was not diagnosed with EM, however symptoms are very similar. Burning feet, pain and swelling, aggrevated by stress, being on my feet for long period and everything else. Symptoms occur every night - I sleep with my feet out, etc. When my father suffered from this condition, nearly 40 years ago, we were laughing, since we didn't understand if he was making fun and jokes, walking on his heels.

I just read that there are nearly at least 30 known mutations of SCN9A gene.

Hi Ben,

Many of the EM community were tested earlier this year- we are seeing XENON saliva test findings trickling in . Like Nel, I have not received my results as yet. I rationalise that non familial primary sufferers like myself (ie: sporadic or idiopathic) must share something in terms of mutations; there must be a commonality. As Maggie points out , mutations are being found but as to their significance - hmmm who knows .

Mod team have posted the latest findings on genetics and clinic of EM( Dr Breivike, September,2014).

Here is link

http://www.livingwitherythromelalgia.org/forum/topics/new-pieces-of...

Good Morning Ladies,

I paid for DNA information through 23andme.com. Once they processed my information, I paid to have it run through a couple of other websites to get the medical information I wanted. www.livewello.com was my favorite and was most user-friendly. It cost $19.00 to get a full medical report. In the report, online, you can open each section for detailed information on each mutation. I was able to print this and brought the report to my geneticist. It is how I was diagnosed with Ehlers-Danlos Syndrome and Mast Cell Activation Disorder. I did not look to see if I have the mutation you are referencing for Erthromelalgia, but I believe mine was medication-induced by Levaquin and may or may not be genetic. I just wanted to mention what I have done in case it may be helpful to any of you on your journey to answers and wellness. :)

Have a blessed week,

Beth

Thanks mads,

I have followed your link and proposed looking at the genes mentioned in the article to my doctor at the genetic research company. She agrees that this is one possible direction to take in case my SCN9A genes show no mutations.

It is really good that there is so much knowledge in this forum!

Thanks and greets,

Ben

mads said:

Hi Ben,

Many of the EM community were tested earlier this year- we are seeing XENON saliva test findings trickling in . Like Nel, I have not received my results as yet. I rationalise that non familial primary sufferers like myself (ie: sporadic or idiopathic) must share something in terms of mutations; there must be a commonality. As Maggie points out , mutations are being found but as to their significance - hmmm who knows .

Mod team have posted the latest findings on genetics and clinic of EM( Dr Breivike, September,2014).

Here is link

http://www.livingwitherythromelalgia.org/forum/topics/new-pieces-of...

I wish I could shout this from the rooftops sometimes when I hear about the SCN9A and genetic erythromelalgia....if you get tested and you don't have the SCN9A mutation, that doesn't guarantee that you don't have genetic EM. I have myself and all four of my kids with EM....so they do classify us as having genetic erythromelalgia, but we do NOT have the SCN9A mutation. Only a small percentage of all those with genetic erythromelalgia have the SCN9A mutation. I have nine brothers and sisters and none of them have EM, so the genetic defect must have started with me.