Fragile X Free

I wanted to write a poem about our good news today but I had a hard time finding things to rhyme with chromosome.

So while at Stanford last month Dr. Personality suggested we get some scary genetic testing done to see if the Doodle has some genetic flaws. Apparently, there are several genetic tests that could explain the Doodle’s epilepsy, autism and developmental delays. Having the Doodle when I was 38 years old and with the fact that my husband was substantially older (49 years old), we had all of the testing done that we could while I was pregnant: the triple test, the amnio, cvs. All came back normal.

At Stanford they drew the Doodle’s blood and ordered the tests. These tests take up to 4 weeks to get results. Today I got the call from Stanford with our "good news". The genetic testing came back “normal”. They tested for four things. The one test I was most worried about was Fragile X. As soon as the doctor told us he was recommending the test and thought it very likely that Dom had Fragile X, of course I went home and googled it. A high percentage of Autistic children have Fragile X. That would mean, I would have passed it down to the Doodle since it comes mostly from the mother’s side when a son is affected. A father cannot pass it down to a son, they can only pass it down to a daughter and for some reason girls are not as affected as boys—which means I could have had it my whole life and never known. It has something to do with the Y chromosome making up for the mutation in the X chromosome in girls. They also talk about how it can be dormant or skip generations…

All I could think about, selfishly, was that I might never have grandchildren if I passed down a mutant gene to my children. I was already prepping the dialog for when it would be time to tell my 9 year old.

For the last month I have been freaking out and not sleeping over this. I was sure the Doodle had Fragile X. He showed so many of the symptoms of Fragile X except for the long face and large ears they talk about on the Fragile X website. Then, if I really looked at him hard enough, I could see Dumbo. I could see a a sweet child getting teased just like the lovable Disney character. Everyday I would check his ears to see if they were getting bigger. I’d look over at the above average sized ears that my husband is famous for and then I would think, Oh No. Handling my anxiety and worry in my normal fashion, I have been eating myself into an oblivion of comfort food, chocolate and baked goods. The giant troft of licorice I bought at Costco is finally gone! I may never eat licorice again.

It’s not to say our chromosomes are out of the woods completely. I know the Doodle still might have some genetic flaws or issues, they just might not have a test for them yet and they haven’t been able to identify them. It bothers me that they even put this kind of label onto a child (or family). It’s enough he has been given the autism, ocd, adhd and epilepsy label. Do we need to tell him how messed up his genes are too? Don’t we all have some genetic flaws? We can’t be and are not all perfect. I’m looking at our gene pool and all I can say is, God Help Us. Our family should have it's own reality show.

You want your child to be healthy (of course) and you want to be known to have only passed on things like a small waist, long legs, big brown eyes, stunning good looks and a sense of humor. I can’t help but feel responsible every single day for the Doodle’s condition. I rack my brain and wonder what I did when I was pregnant to have caused this. As much as it sucks for me and for our family to watch the Doodle suffer, seizure after unexplainable ffffing seizure…it is the hardest on him. And, he is going to have to live with this condition (according to Doctors) for his entire life whether he has a mutant chromosome or not.