It’s been one week.
One week to share with our parents and to ponder the force of genetics in our family.
The words were crushing, I didn’t know a genetic diagnosis would feel like that.
And then, real life happened.
Our faithful friend was put to sleep and Amos, the four year old subject of genetics, learned to unzip his feety pajamas, take off his pull up, and pee in his bed (a pack and play- it’s a long story.)
Whole Exome Sequencing (WES) done through research studies at Duke & then Columbia, the latter the much faster of the two.
My husband and I and Amos and our other two sons and my parents and my mom’s three brothers have also been tested, at no charge, in case you’re wondering.
A week from yesterday, Dr. Chung, head of The DISCOVER Program for Undiagnosed Diseases at Columbia University Medical Center (CUMC) shared what she thinks, though we won’t know with absolute certainty until the testing comes back next month regarding my uncles.
A mutation on a gene.
We have 23 pairs of chromosomes and 20,000 genes that live on them.
My mother and I and Amos have a mutation on of the genes.
The gene is called MED 12.
It travels on the X chromosome and in girls, is harmless, but in boys, it shows clear signs of being present.
Amos, to be exact.
What about my daughter?
She hasn’t been tested as the information is useless at this point.
When she is older, she can choose to find out if she is a carrier (of which she has a 50% chance), she will have a lot of soul searching to do.
Is it bad to say that I’m thankful that I didn’t know? But then again, I thought folks with disabilities were lesser than, until I met Amos. My daughter knows better, but it’s not easy.
What does having a diagnosis mean?
It means that we will be connected to the other 40 or so families in the world that also carry this mutation.
It means that Amos will have a real diagnosis, not just autism, but the umbrella we’ve been looking for so we can understand our complete and lovely son.
It means that Amos is extra special after all, 1 in 150 million.
It means that he will never “catch up,” but as Dr. Chung said, we shall never put a cap on him.
Amos the meteor, the world is better with you in