We have always loved our special little boy, and would not change him for anything, but always knew something was a little bit "not right." I don't like to say "wrong" because I know he was made in the image of Christ, and was made exactly how God intended. Either way, Noah is far behind in development in comparison to his peers.
Josh and I have been pretty active over the past 6 months in trying to get Noah more help. He ended up out-growing his Early Childhood Developmentally Delayed label when he turned 7. The school district gave his an LD label which is generic for Learning Disability. This is a great label, if that's really what you have. Not so much for Noah. So, for the past 6 months his doctors (and nurses) have been fantastic at making sure we've covered all our bases.
One test that was never performed on Noah was a chromosomal array analysis. This didn't happen for two reasons. Number one being that he doesn't fit into any well-known certain condition like Down's Syndrome or Trisomy 18. Each of these are identified on this test. Reason number 2 was that the test is very expensive, and without having a strong reason to perform this test, insurance will not cover it.
We finally got approval mid-summer to get the testing done. It came back abnormal. The doctor was extremely surprised. So, they sent in Josh and me to have the testing done too. All of the blood was sent to Mayo Clinic where the test is performed. We found out that neither Josh nor I have this abnormality.
So, after years of wondering, our hearts hurting, wondering if it was something we could have done or prevented, we have our answer.
Noah has a chromosomal abnormality. He has a deletion on Chromosome 8. Every one of the cells in his body has this deletion it it. There is no official name for it, it is not common enough to "warrant" a name. We have heard numerous different numbers but hear that is extremely rare. The geneticist we are working with has never encountered it. We have found 7 parents worldwide with a similar deletion. All this really means is that it is not surprising why it took so long to figure out what exactly was going on with Noah.
Having this sort of diagnosis will eventually accomplish what we wanted in the first place- more help for Noah. He will qualify for numerous different programs, summer therapy, and will allow for him to have a label at school that is more appropriate. All this just takes time, to work through all the "red tape."
So, after all these years, we know that it was not the medication I was on, his difficult birth, or anything of that nature. We finally have an answer.
If you're interested in what a Chromosome 8 deletion looks like you can check out this website.
