I have waited to get my written report before I posted this so I can get the facts straight. My specific genetic mutation is R66H, in exon 18 of the MYH7 gene that encodes the beta-myosin heavy chain. If anyone understands all that you are a whole lot smarter than me. They mapped out my family history and of my dad and his siblings 50% carried gene and passed it on. My brother does not have disease (as of yet he is 56). So, I am the 50% in my family. My children so far are HCM free. Have we beat it? who knows? I would like to think so. There is a commercial genetic test the kids can take for about $250. Sounds like a great idea because if they do not carry the gene we are home free. But may not be a good idea. Insurance could be a major problem. If they carry the gene you cannot tell if they carry the gene, if they will ever develop HCM or how severe it will be if they do. Basically they kind of recommended to continue Echo's every 5 years, my grandkids more frequently when approaching puberty. So, that is my basic 3 page report. Dolly, I hope this answers any of your questions.
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Midge,
I was so glad to see your "report"! Thank you.
My oldest son Brady had already told us he did not want to take the test. (for now anyway) We are fine with his decision. and I am even better with it now after hearing that is what was reccomended to you about your children as well! We will just try to get him to keep up with his echos. (he is currently past his 5 year echo schedule!)
Thanks again!Dolly~
mom to Andrew(HCM) 21 years old
Diagnosed \'95 age 5
Myectomy \'96 age 6
ICD implant \'99 age 9
First ICD shock (X2) \'04
ICD replacement surgery \'05 age 15
*And aunt to 7 year old Kenny who had HCM and suffered sudden death in gym class. (2/20/87 - 4/6/94)
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