The kid's specialist called today to inform us that we would be moving forward with yet another specific genetic test, for a condition called Beta-Ketothiolase deficiency. What's frustrating about this test is that I thought the kids were tested for it as part of their newborn screening test in Ontario. The Dr. informed us that, newborn screening tests are not at all that accurate to begin with. A simple drop of blood on a sheet of paper (if some of you remember) is your child's newborn screening test... Not your child's cord blood, or blood tests, a dried drop of blood on a sheet of paper. What do they do with it? They look for "markers", NOT gene mutations. So here's an example: If a kid is born of a healthy mother and is not in immediate crises (ie: low levels of whatever in their blood), the test is said to be negative for that specific illness.
You think you leave the hospital with a healthy baby and you go home, unaware, with a ticking time bomb. We are fortunate to be dealing with a condition that is treatable (we think) and have been pro-active at finding out early that something was not adding up. Imagine finding out that your child has irreversible brain damage because of something you never prevented because you thought everything was normal? To me that sounds a lot like medical negligence... but again, I might be a little upset about the whole thing right now to provide an accurate opinion about it.
From one mother to another, be vigilant about your child's health. If you feel like something is wrong and everybody is telling you it's fine, go with your gut. Don't let your child be a victim of a possible rare illness.
So we wait, another 6 to 8 weeks for the results of this one and we will see.
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