I am surrounded by incredible family and amazing friends and people who would do anything for my family. But I'm lonely. I want a place for my kids to fit in. I want to have a specific name, explanation, foundation, for the "funk" my kids have. I am not sure why it's so important to me, it just is. Oh, I know plenty of people with special needs kids, but they all have a label, an explanation. Sometimes I just want to talk to a parent who has exactly what my kids have. Sometimes I want to talk to someone who has both of their kids with the funk. When I'm feeling all boo-hooey because neither of my kids are "normal", I want to talk to someone who is in the same boat. And I am not sure why I want that so badly, I just do. I don't need anyone to fix my kids - I just need someone who gets it because they are right there with me.
So we have been on a 9 year quest to figure out what is up. It started with Zach when he was six months old and it continued when Ryan was labeled with low muscle tone and 12 months. We've done tens of thousands of dollars worth of tests (thank you, Blue Cross/Blue Shield and Aetna!!). We've seen numerous specialists including a metabolic geneticist who conferenced with us and a metabolic neurologist.
I'm beyond the point of fixing my kids; I've moved on to helping them fit into this world and be boys filled with joy. But I'm still willing to pursue the name of their funk.
Last April we did some pretty cool x-linked mental retardation tests. We had to go to great lengths to get the blood drawn and sent to a lab in South Carolina. I even had the perfect excuse when I mess up... I'm half-retarded. I found out today that they came back normal. Yep, once again, my kids are declared "normal". If you know my kids - you would find that as funny as I do.
We also did a second chromosomal microarray analysis. I haven't heard the results because the pediatrician didn't send them to the geneticist. But I expect them to be normal as well.
Anyway, today we visited our geneticist and she examined the boys and shared her thoughts. Basically, there is so many new syndromes being introduced on a monthly basis. New DNA tests are being created monthly and old tests are becoming more effective. She told me that two months after our last microarray analysis, they updated it! (It is kind of neat to see these evolve - we did the very first type four years ago.)
She pretty much ruled out x-linked syndromes and is now refocusing on autosomal recessive syndromes. (If you remember your Punnett Squares from high school biology you will remember that in order to have the recessive trait, both parents have to contribute the recessive trait.) I am not sure of specific syndrome names, but she did mention retesting for Fragile X. She said the boys have the hallmark traits even though the previous tests showed they didn't have it. Apparently, they greatly improved the test and she thinks it's worth a try.
Later in the day - after a side trip to Ikea - we visited the neurologist. We have seen Dr. Fernandez several times a year for the last 9 years - I have such respect for his determination to figure out these kids! After telling him about the genetics visit, he said, "You will find out what is wrong with these boys." He has never said that before and it gets me excited... Scientists are learning so much everyday and it's only a matter of time before we can put our finger on it.
So now I will be cautiously optimistic about this round of tests. I've been optimistic before and was let down - I tend to lean on the pessimistic side, but today's appointments give me a good feeling!