You could save a life.
It's not something I realized until our son was born. I always had an interest in medical things, but I never had studied that much into genetic syndromes. I knew about the common ones, but I had no idea that there are so many genetic mutations possible for children. Ignorance is bliss until you are faced with a problem.
Having a basic knowledge of medical issues, genetic syndromes and what they entail, could save your own child's life, and it could save someone else's. It would be of course impossible for us all to be experts in such things. We also do not want to go around telling people that their child looks like they have a genetic mutation. It might not go over well. There are times however, when you might run into a parent who brings something up to you. Maybe they are concerned about a problem that they notice in their child. Maybe they notice something different about the child's appearance or actions. If you have a little knowledge, then you could at least steer them in the right direction.
I didn't have much use for geneticists, and I still do not think highly of the one we had for Trenton, but they have an important job. When Trenton was born, unfortunately, he was moved around and his geneticist lost track of him in the shuffle. The regular doctors and even a neurologist did not pursue genetics and the neurologist past off his condition as something that he obviously did not have. It was one of our NICU nurses who told us that we needed to call in our geneticist that made the difference. One of her best friends had a son with CHARGE syndrome and she suspected that Trenton did also. She also informed me that I was my son's advocate. This nurse was one of the most helpful people we came in contact when Trenton was born. The geneticist came, and was pretty sure that that he did have CHARGE. When the eye diagnosis of a coloboma came back, she ruled it positive even without a blood test confirmation. We had a diagnosis because someone had a friend - who had a son - with CHARGE. Blood tests did also confirm the diagnosis.
You may wonder, as we did, why a diagnosis is important. The reason a genetic diagnosis is so important is because many of these syndromes are not just one issue. Usually, there are many issues involved with various organs. For Trenton, it was the eyes, ears, heart, and kidneys (slight). If Trenton had been born without our knowledge of any problems with anything, then the first problem to show up would have been his heart. If he had lived through that, then it probably would have been a long time before we would have known he was deaf or had anything unusual with his eyes. Thankfully, his kidneys are just a little different but not life-threatening. My point is that knowing an overall diagnosis will make doctors look at the rest of the body. This could save a life.
So if you know someone or have a child that you find out is hearing impaired, is missing a kidney or has other kidney abnormalities, or has some issue with the heart, now you might wonder, hmm... I wonder if there is an overarching issue? When you talk to your friend, you can discretely ask. You know your friend, so you know how to best do this. You could save a life. Issues of the heart can be unnoticed for a long time and suddenly cause problems. Trenton's would have died within days, but that is not always the case with congenital heart defects.
This blog post is not to make you worry, but it is to make you realize that a little knowledge is not a bad thing. You could save a life.