Some of you may be aware that SMA is usually an autosomal recessive disease, meaning that both parents must be carriers and that any child produced by those parents has a 25% chance of having the disease. There is a small chance that only the mother is a carrier (ala Hemophilia) and we needed to understand what category we fit in.
Recent testing confirmed that both Rebekka and myself are carriers. What does this mean? For one, it means that immediate family members thinking about having children need to be tested and if they are positive so do their spouses. It also means that if we choose to have more children, it will likely have to be through in vitro procedures as they can test embryos to about 98% accuracy to determine if the SMA gene deletion is present.
These aren't easy things to find out, but it's critical if we are to make future decisions.
Bekka and I have also become passionate about pre-pregnancy screening. As it stands right now, Cystic Fibrosis is the only disease routinely screened when most couples are thinking about having children. Even then, not all doctors advise their patients to get screened (a travesty if you ask me). SMA is an even greater mystery to most physicians. Many know nothing about it and it's prevalence is beginning to look even higher than CF.
We strongly think, no we KNOW, anyone thinking about pregnancy should be screened. There is no real treatment for SMA. Genetic testing and prevention is the only means for parents to avoid the heartbreak of this terrible disease.
Saturday, May 23, 2009
Subscribe to:
Post Comments (Atom)
Posts
I think it's really interesting that Drs push testing for Tay Sachs genes (similarly untreatable as SMA) in couples where either parent is an eastern European Jew. While it's not uncommon in families where both parents are eastern European Jews, highly uncommon in mixed families like mine. I was pushed toward testing for this, but not SMA. Seems illogical.
ReplyDeleteAs one of those moms who was/is a carrier for the hemophilia gene and not knowing, I'd love to see more prenatal testing overall. Knowing my carrier status was important in deciding about future pregnancies, but it also has made a HUGE difference (and could be potentially life saving) in my general health.
ReplyDelete