If you’ve been reading for awhile, you’re familiar with the fact that I very nearly died after having my babies and later found out I had a previously undiagnosed heart defect, left ventricle non-compaction syndrome. Further genetic testing revealed that my heart defect was due to a genetic mutation, which led to genetic testing for both Etta and Claire, too. I really really hoped neither one got it, but there was a 50/50 chance they did.
It turns out those odds were exactly right. Etta has the mutation, Claire doesn’t. The good news is, both girls have already had echocardiograms, and we know they don’t have my specific heart defect. But, the mutation can also cause other forms of heart failure, so she will need lots of monitoring to make sure her heart is staying healthy. We see the geneticists later this week, and then we will be referred to cardiology. That’s all we know for now.
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My husband has several diseases (epilepsy, rheumatoid arthritis, thrombophlebitis, hypothyroidism) which could be inherited. I worry for my girls but can’t do anything about it, only time will tell and I hope my chromosomes have won.
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We recently found out that many of my family members have Kennedy’s disease (very rare, genetic disease). My father passed it my sister and I (not my brother, it is located on the X chromosome). So I know that I had a 50/50 shot of passing it to both my kids. If my daughter has it she will be a carrier like me, and show very few symptoms, but could pass it on. If my son has it he may start losing muscle control and muscle mass in his 30s and this terrifies me. They won’t test for it until they are adults because it is considered ‘adult onset’…even though they could both have it now. …. A very tough time for me, because I didn’t know I was passing anything, or may be passing, anything on to them. Now, watching my father deteriorate slowly I think about watching my son or grandchildren having to go through the same thing… and what if I decide to have another child??? Good luck at the genetics clinic :)
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My brother has congenital heart defects. His heart is on the wrong side and he has three chambers instead of four. He is doing amazing though. He is 24 now and you would never know he had any problems at all.
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Your little darlings! It’s good to know this early on.
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