My Mutation discovered - ORAI1 and Verapamil

[kilerb]

So, after multiple attempts at trying to get my DNA sent to Dr. Bohm in France, I finally succeeded.  I have the ORAI1 mutation.  I asked about Verapamil and he said I would be better off with the supplement Resveratrol and also mentioned there are certain muscle relaxers that block calcium into this gene in the muscles.  Regarding Verapamil, I wanted to share what he said regarding that...  In case others with the ORAI1 mutation are taking it.  He said "Verapamil is indeed a calcium blocker, and it works very well for calcium-related heart disorders. It however has no effect on ORAI1, this has been tested in different laboratories. If some TAM patients report a positive outcome, this might be a placebo effect. Or these are patients that do not carry a mutation in ORAI1."  So, I don't know if it's effective on STIM1 or CASQ1 (the other primary mutations that cause TAM...) but if you have ORAI1, they've done tests and it won't help.  He has hope that in the next 5 years they will have a treatment for a ORAI1 calcium blocker, as different pharma companies are investigating this.  If you haven't done so, I would definitely get your DNA analyzed by a geneticist that can tell you which of the 3 (assuming you have 1 of those 3...  Apparently 10% or so of TAM patients have an unknown mutation) you have so you can at least get some sort of direction with the limited info out there.  And if you're on Verapamil, and you have ORAI1, you might consider looking at other options.  As of now, I have not asked my doctor for a muscle relaxer prescription, and I've just been taking 1000mg of Resveratrol daily.  Just nervous about taking a muscle relaxer every single day. He did mention he thought it would be a bit more efficient than the Resveratrol.  So I may talk to my doctor if I don't see a difference with the supplement and see if there is a muscle relaxer that has very little side effects that also reduces the calcium levels in muscles.  Good to know they are working on treatments for ORAI1 regarding calcium blocking pharmaceuticals, and he did mention that the same treatment should be effective on STIM1 patients!  So there is some good news.

[georger]

Well done. Thank you so much for all that information and news.

This tells me that I do not have the ORAI1 mutation. I say this because the effect of verapamil was spectacular. I went from only being able to stand up and not walk a step to at the peak being able to walk 1km. 13 years later I am still better off than before verapamil. This is way beyond the effect of placebo. I sent my DNA to Dr Bohm at IGBMC 6 years ago and was advised that I do not have a STIM1 mutation. So I must have a CASQ1 mutation or another that has yet to be discovered.

You have sparked my interest again. In recent times I've been going with the flow, just happy with small improvements.

Let's know how you go with Resveratrol or the muscle relaxers.

Thanks again.

[Craig Lane]

I had mine tested too but only STIM1 and ORAI1 were mentioned and I had neither defect So I will get back in touch with my geneticist and see if mine was tested for CASQ1 or maybe I'm of the 10% of an already ridiculously rare disorder. Chances of that 1:25.7 million.

I like rare but that's so rare it still has a pulse.