Tuesday, March 12, 2013

I hear you!

I'm not sure how much of this I have mentioned before, but we were very concerned about Johnny's hearing before he was born. When they run the full microarray on chromosomes they can detect a lot about those little things. One of the things detected was a deletion of a small portion on Chromosome 13. Because they ran our blood work as well, they knew this deletion was inherited from Matt as he has the same portion missing. The actual loss for anyone who is interested in genetics (as I am becoming increasingly) is in chromosome band 13q12.11. When they were explaining the major link with the loss, they said that it is sometimes linked with hereditary deafness to which I couldn't help but snort at. Mattie and his Dad both have major issues hearing and filtering out noise. I felt a little hesitant about this information as I knew that Johnny would face some challenges already and I knew that if he has any hearing loss then that road will be all the more difficult. They said there were additional tests we could run to see how big the risk factor was for our little man, but we decided that as there was nothing we could do about it, then we may as well just wait. I wasn't a huge fan of risk factors at that point. 

When Johnny was born he failed the hearing test in the hospital twice. They ran it in our original stay and when we we readmitted for phototherapy, our pediatrician had us run the test again since we were at the hospital anyways. After he failed we had to jump through hoops to get an appointment with an audiologist to which we have now been to twice. Johnny can hear just fine but is still retaining fluid in his ears which could lead to problems later. This is somewhat common within kids with Down syndrome because of the way Ds manifests in the cranial/skull structure. Smaller inner ear bones and structure make it harder for fluid to drain out. This is also a somewhat normal issue for the non-chromosomally enhanced population. So we have an appointment in a couple weeks with an ENT that comes highly recommended from several people. In an odd way the fluid in his ear has made me smile. Because it is a normal kid thing too! We could be facing tubes which is something I can talk to other Mommies that I know about! We have several friends that have faced this very thing! And that feels really good to know that others have faced what we face in that regards. 

Another interesting takeaway from all of this being laid out by genetics is the fact that they have all of this mapped out for us to see. For hundreds of years people have said they get certain traits and ailments from relatives. In our day in age we get to see that! We can see that if Johnny develops difficulty hearing later in age, then he gets that from his Dad and it is mapped out in every cell of his being. Science keeps looking and searching and they keep finding out more and more and finding smaller bits of our very being. While I think there is a fine line of how much you want to find out, it is pretty amazing what science can see. I also think that the boundary will always be pushed further and further and we will never reach the end. Each time scientists get ready to exclaim, "This is it, this is the end!", new discoveries are made of even smaller parts that need to be investigated. It's pretty amazing design!

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