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Post by kilerb on Nov 5, 2019 6:51:14 GMT
I've noticed people with TAM talking about how we all have different symptoms. I think it might have a lot to do with each of us having the different mutations that cause tubular aggregate myopathy. I thought it could be helpful and educational to all of us if we put our mutation out there. So I attached a poll to this post... Please answer the poll and then I think it would be helpful to mention your age/sex/symptoms and any other details so we can see how things possibly differ between mutations. I could be wrong, but I think that will make a big difference and be a much better situation then just generalizing with "I have the same thing everyone else here does." Because it sure seems like that's not the case. According to Dr. Bohm, there are 3 known mutations now (STIM1, ORAI1, and CASQ1) Then some come back "unknown" ... Sooooo... I'll answer the poll and reply with my details in the first reply to this post below. Thanks!
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Post by kilerb on Nov 5, 2019 7:03:37 GMT
I answered the poll above with my mutation. Which is ORAI1. He gave me more details, which are as follows... The exact position of my mutation is c.319G>A on the DNA and p.Val107Met on the protein. In short, there is a wrong amino acid at position 107 in my ORAI1. I don't know what all those other details mean of course. My symptoms are primarily just weakness at this point. Walking hasn't been an issue yet, but going up stairs is hard. The higher the step, the harder it is. Also, getting up from lower chairs/seats etc... I'll be 49 this January. Dr Bohm also mentioned that my dermatitis is probably caused by this mutation as well. I found an article online that found a relation between ORAI1 issues and dermatitis as well. There are other things that ORAI1 problems can cause, and he is hopeful that there will be some sort of pharmaceutical in the next number of years because ORAI1 is a hot button in that industry now. I believe primarily because it is a cause of inflammation in many. In my case ORAI1 is leaky and it causes a permanent calcium influx independently of ORAI1 activation. Too much calcium in my muscle cells. Leads to permanent contractions/cramps. Have not had much of that yet. Knock on wood. My hope is that a specialized ORAI1 pharmaceutical could help block the calcium into the cells. I'm not sure if this is the same situation for other mutations, but I do see STIM1 discussed sometimes along with ORAI1 issues. If you have TAM and haven't gotten your DNA analyzed, I would DEFINITELY suggest doing so. Because everyone will have a different situation, which seems evident by all the different symptoms everyone here displays. Should be interesting to see other people answering the poll above and giving their details.
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Post by Craig Lane on Nov 5, 2019 20:18:12 GMT
My DNA test was done in 2014 and although Dr Bohm was at that time primarily interested in STIM1 mutations according to the report I had back from the geneticist says "his team also analyzed two other candidate genes and did not identify any alterations" I assume from that I'm one of the other TAMites
It will be interesting to see how the percentages stack up with our members
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Post by georger on Nov 12, 2019 2:18:21 GMT
My DNA was tested in 2013, so all I know is that the mutation is not STIM1. The near miraculous response to verapamil would seem to rule out ORAI1, so it's either CASQ1 or as yet undiscovered.
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Post by leteeters on Nov 12, 2019 15:56:40 GMT
How do you go about getting DNA testing. Verapamil does not seem to help me much maybe a little. I am on 240mg tried 480mg could not tell much difference. I have been taking Verapamil for close to three years now. The only relief I get is from strong pain meds and it looks like that may not be an option anymore because of the war on opioids here in the USA. i was just released from the pain clinic yesterday they gave me one month prescription a letter of good standing and said good luck. I had been at this clinic for almost three years. So here we go again. Thanks Leteeters.
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Post by georger on Nov 14, 2019 2:16:18 GMT
Good that you want to contribute to DNA testing and sorry about lack of definite benefit from Verpamil. The organisation best researching TAM and DNA is IGBMC* in Strasbourg, France, specifically the Pathophysiology of Neuromuscular Diseases team: www.igbmc.fr/research/department/4/team/48/I think everyone has always dealt with Dr Johann Bohm. His email address is at: www.orpha.net/consor/cgi-bin/Directory_Professionals.php?lng=EN&data_id=46417&MISSING%20CONTENT=Dr-Johann-BOHM&title=Dr%20Johann%20BOHM&search=Directory_Professionals_SimpleI suspect that we are so scattered geographically that the experience of everyone will be different but here's my experience from 2013. Dr Bohm looked at my biopsy results and wanted high quality DNA extracted from blood. Apparently the usual cheek swab was not good enough. DNA in solution is stable and therefore suitable for sending overseas. Fortunately I live not far from a genome research facility. Unfortunately they usually deal with animals and plants, so I had to ask my doctor to extract blood and take it to the lab. So it was a bit of trouble, but how exciting to be contributing to fundamental research. Best contact Dr Bohm in the first instance. Let's know how you go. * in English - Institute of Genetics and Molecular and Cellular Biology |
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Post by leteeters on Nov 15, 2019 1:28:30 GMT
Thanks georger. OK I have an appointment with my GP in December, He has not shown much interest in this so we will see how it goes. From my experience so far once a doctor looks this over a little they seem to not have much interest at all. I know I say Thanks alot but seriously this board means alot.
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Post by Craig Lane on Nov 15, 2019 21:22:01 GMT
Hopefully this time your Doctor will have some curiosity, but I suppose it's easier to show lack of interest than lack of knowledge for some people
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Post by leteeters on Nov 16, 2019 14:22:48 GMT
I called yesterday and got an appointment for Tuesday. I also found out that there is a genetics center fairly close by about an hour and half away. The Mission Fullerton Genetics Center in Asheville NC. There is also one in Chapel Hill NC but that's like a six hour drive. What I do is print out the Pdf's from nuttysmallholder 18 pages and the links to proboards, Alen's Facebook page,and the GARD web site and I give this information to the doctors to get them started. That has been my process so far I don't know what else to do. I usually don't do this on the first visit. I am excited about having this genetics center so close to me. First time in a long time that I've been excited. Sorry I am a little confused is Craig Lane and Alan Siewert the same.
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Post by georger on Nov 17, 2019 2:26:22 GMT
Sorry that your doctor is not that engaged. I'm guessing that this is not uncommon. Over some years I went through quite a few before hitting the jackpot and by chance going to one who is largely responsible for me being in as good a shape as I am. He had done medical research before becoming a medico. So there are more interested doctors out there.
Alan is in the US and Craig is in the UK. A huge thanks to Craig for this forum.
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Post by leteeters on Nov 17, 2019 14:07:00 GMT
I am going to try to get this doctor more interested in TAM. I agree a huge thanks to Craig for the forum. I am 52 years old my symptoms are weakness severe muscle pain,cramps,burning tingly feeling and numbness. I am on a vitamin cock tell, pain meds, verapamil,muscle relaxer. This allows me to do the things I need to do and if I'm lucky some things that I want to do. I had my second back surgery in 2006 and had no signs of TAM until this surgery. I don't know if being under anesthesia is something that might cause TAM to rear its ugly head or not or maybe it makes no difference. Thanks for clearing up Alan and Craig for me I don't know why I thought they was the same person.
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Post by leteeters on Nov 19, 2019 20:40:53 GMT
Wow! I was completely surprised with my doctors appointment today. He showed increadable interest in TAM and he is going to reefer me to the genetics center in Asheville nc. I don't know what was different about today but it was a very good visit. I gave him a copy of the TAM pdf's and he was very interested. So we will see how it goes.
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Post by georger on Nov 20, 2019 1:14:22 GMT
Wow indeed! Well done. You've reminded me again of the number of disengaged doctors I've seen and who obviously just wanted me to go away. So you've done well.
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Post by georger on Dec 29, 2019 3:28:14 GMT
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Post by georger on Jan 3, 2020 0:44:04 GMT
I've now learnt that I don't have a mutation of any of the 4 TAM related genes STIM1, ORAI1, CASQ1 or EBF3. Even more surprising, nor do I have any obvious mutations of other muscle related genes. What a mystery. I will have to give my muscles a good talking to, as to naughty children, "Stop misbehaving, there's nothing wrong with you." Will I be expelled from the forum as an interloper?
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