Having the gene but no disease?
Hi all. I was recently hit with the horrific news of my mom having HOCM which prompted me to get tested (at 20 weeks pregnant) when I found out that I am positive for a MYH7 gene variant, the same type as hers. I’m phenotype negative currently according to my most recent echo. My variant is currently a VUS but will probably be classified as pathogenic soon.
The anxiety over this has been eating me alive. I feel like the more I read, the more severe this all seems. I am reading about severe childhood onset, heart transplants, SCD, fast progression- I am so beyond terrified. I am pregnant and absolutely horrified of potentially passing this to my baby. Not to mention what to do about having more children (IVF with gene screening is very expensive so not even sure if that would be an option for us) is it considered unethical to have more kids knowing this is in my body?! I have no idea because one thing says that it is highly manageable with a normal life expectancy and most commonly very mild, and another thing says it is severe and ruins peoples lives!?
I am having an extremely difficult time with the fear it has been all consuming. The uncertainty of everything, being told that just because you have the gene doesnt mean you’ll get disease, yet my mom has it, and my brother most likely has it, great cousin most likely has it. That makes me feel like my odds are not great. No one else in the family wants to get gene tested.
All this to ask, is it actually likely that if you have a gene variant you can possibly never develop disease? Or is that a very slim possibility? What the hell makes these gene mutations SO uncertain with expression?!