It's been several weeks since we had the appointment where we discussed the results of Maddy's genetic test. It took me awhile to digest the results. To back up a bit, Maddy had whole exome gene sequencing. Exome sequencing is a technique for sequencing all the protein-coding genes in a genome (known as the exome).1
Maddy's test revealed two anomalies. The first was on a gene that's been named as POGZ. Maddy has what's called a de novo deletion on this gene. I understand from the geneticist, this means we as parents are not carriers of this and it's a mutation that's new to Maddy. For whatever reason, Maddy's copy of this particular gene didn't transfer right and as such, she is missing one of the proteins that make up the chain of this particular gene. Not a lot is known about this particular gene or what it does. We've actually agreed to participate in a study group on this gene.
The other potential result is on a gene named NRXN1. Mutations on this gene are associated with something called Pitt-Hopkins Like Syndrome-2. This syndrome often comes with autism as an additional diagnosis. It can sometimes come with health problems such as heart and liver issues. I say potential result because the whole exome sequencing test showed a mutation on one of the gene pair but not the other one. The geneticist told us this could be partially due to the type of test. Maddy only has this syndrome if there is a mutation on each gene of the pair. There is a specific test for this particular syndrome that will tell us for sure. This test will also look at both Dave and my DNA to determine if we are carriers of this, as it is a recessive trait that can only be passed on if both parents posses it.
So, long story short, we still don't know a whole lot. What information we do have is that Maddy does have a single gene mutation on a gene that no one is exactly sure the purpose of. We also know she might have something called Pitt-Hopkins Like Syndrome-2 but we won't know for sure until another test result is in. Either way, there isn't anything we can do other than what we are already doing.
I'm sorry if this post is confusing with the medical/scientific jargon. I'm a lawyer. I struggle with the medical stuff a lot. It's difficult for me to understand the terms and how best to describe them to everyone. For now, we'll keep looking and keep trying to understand the information we do have.
Thanks everyone for all the support you've given our family whether emotional, financial or otherwise. We would not be able to make it on this journey without the help of family and friends.
Sources:
1. https://en.wikipedia.org/wiki/Exome_sequencing
