My daughter is about to have genomic (whole exam) testing. Before the testing, she was required to have a consultation with a genetic counselor. He asked if she wanted to know any incidental findings. It will take about 2-3 months to have it done.
Have you had genomic testing? Would you? Would you want to know all the findings? What about testing your children? Would you have done it?
I was tested shortly after the loss of our son during his first day of deformed life. I tested as having an extra male chromosome making me an XYY karyotype male. That extra Y also accounts for my greater than average height.
Oh, I am so sorry you experienced such a heartbreaking loss, one that you never quite get over. I am sure you have some sense of resolution to at least having an answer. I had to look up that karyotype and read that it is a random condition and not likely inherited, good news for your extended family.
At the time I was diagnosed (a lifetime ago) there was not much helpful information, so we waited a few years before trying again and delivered another daughter. After she was born I went for the snip just to be fully safe. With three daughters safely delivered, we adopted another to complete our family at four. None of our four girls disappointed us, so a very happy family experience. Two live just 2/3rds of a mile away next door to each other … just the right distance between us
A friend of mine, plus other family members have got to be genetically tested.
The reason for this is because while her adult son was in hospital for somethjng else, they discovered he carries the breast cancer gene, and the hospital want to know where it was inherited from, and who else he might have passed it on to.
LD, your family sounds lovely. It sounds like you have a wonderful situation having two living nearby. I can’t imagine the concern and relief you and your wife must have had when when each daughter was born and adopted healthy ! I admire you and your wife greatly for her determination to build the family you all so clearly wanted. As it happens, the reason my daughter is pursuing testing is that she is adopted, and we have so little to go on in trying to solve this medical mystery.
We were told that because her testing, full exome, is an all or nothing sort of affair, she will also be given the results of possible BRCA mutations for breast and ovarian cancer. Some people don’t want to know these secondary findings, but she is very eager to discover as much as possible about potential risks.
That is a very good reason for delving into the past. Luckily for our M, we have all or rather 99% the history. I often wonder how many adopted children later bump into and become romantically bound to someone they are unwittingly related to and that in itself is a very good reason for genetic delving.