Many years ago, my wife's sister died from early onset Pompe disease. When a child is born with it, it is pretty much a guarantee that the child won't live to their first birthday. If they make it to their first, they are not going to make it much longer thereafter. My wife's sister died the day after Christmas at around 8 months old.
The day we found out that a miscarriage took place with our own child, we were at the hospital having an amneocentesis done to see if our child had Pompe. Since one of my in-laws obviously carries the gene, that means my wife does as well. We had genetic testing done on ourselves, and the probability of our child having Pompe was very low, but we wanted to be sure as we could be, statistically speaking. If the baby tested positive, we would have aborted. After seeing what her baby sister went through for 8 months, my wife couldn't go through it again. After researching, I didn't want my child going through it.
A few things, though. First, down syndrome is a disease where you can still live for a lengthy amount of time. It's not a disease where, best case scenario, you have a little over a year to live. Second, if the test had been wrong and my wife gave birth to a child with Pompe, or had we aborted a perfectly healthy baby because the test came back positive, it's hard to say how I would react. One one hand, I would be fucking furious. On the other hand, (our doctor, at least) warned us that the amneocentesis may not be 100% accurate, especially if a gene mutated some point between the procedure and birth. It is as close to 100% as a test can be, but nothing is ever 100%. It was going to be our decision what we did. If the doctor of the lady in the video was halfway decent, he probably would have counseled his patient such as our doctor did on the risks, options, etc. Unless the test came back positive, and this doctor can't read or something and told them it said negative on the paperwork, then I just really don't see how the doctor lost. Maybe there was some sort of malpractice, but it sounds like an over-sympathetic jury.
7 Replies
1049 Views