Let’s begin with J

J is a bright, funny and the most patient big brother. There are so many times I’ve told A you’re lucky he’s your brother. A is my bully.  J is a sweet boy who just wants to do  his thing and be left alone most of the time.

So what is Fragile X?

Fragile X is a rare disease. Fewer than 200,000 cases diagnosed each year. It might be more but you only get your blood scanned for this if something warrants it. Jacobs autism diagnosis being one. Fragile X causes developmental disability ranging from very mild to very severe. It can also cause you to have very lose joints. For some unknown reason this mutation affects boys than it does girls. Even with the full mutation some girls never have symptoms manifest. All three of my kids, my son in particular, hit the genetic lottery.

First J had to be born to a parent who had either the pre mutation, which is what I have , or the full mutation on one of their X chromosomes. My husband could have been a carrier had our daughter been the one tested first, but as it was our son we knew it was me.

Second he had to be lucky enough to land the X with the mutation. He had a 50/50 shot as one X was normal.

Third he had to get even luckier to be one of approximately 20% to have autism manifest from his mutated gene.

Now what’s the difference between a pre mutation and a full mutation?

A pre mutation, 60 repeats or less, doesn’t generally result in symptoms. You’re more likely classified as a carrier. As I found out a pre mutation carrier, if passed on, will always pass on more repeats. J and S have full mutations, over 200 repeats of the gene. Because A has 2 X’s, this helps her see less of the problems of Fragile X but will be a huge factor when she decides to have kids. J more than likely will never have children.

That being said, sometimes I have a hard time imagining a future where J doesn’t live with us.  As a parent you wish all sorts of things for your children. Things you want them toa complies both on the small and large scale. With J we focus on small things instead of large ones. There is some debate amongst the many speech pathologists about why he is nonverbal. Apraxia, dyspraxia ( which are the same thing apparently), the autism. Whatever the cause my son cannot speak the traditional way. Among his many other hurdles, to me speech is the focus. There are two forms of language, receptive and expressive. The latter being spoken.

Could you imagine being trapped in your head by a body that won’t cooperate? I see the wheels Turing. I see his frustration on not being able to answer yes or no questions. You see how smart he is when he can slow down and perform the task at hand. It’s amazing to see how his mind works. He amazes me every day.

Sometimes I wish people wouldn’t say ” You’re lucky he doesn’t talk yet. Once they do they never stop”. Parents never mean anything by it. They’re commiserating one parent to another about all the why questions. They don’t realize how much you long to hear your 4 year old say yes or no to a question. Forget I love you or I want breakfast. Just the very basic responses we take for granted when asked a simple yes or no question. J cannot answer me this way. He has to physically push something away or grab an icon from his book to tell me.

I stopped focusing on the long term and started appreciating the immediate. The little things he accomplishes. The good days that he has. The progress he has has made in he last year. I cannot compare him to kids his age or even kids his sisters age. He is not like them. He cannot do some of the things they can do. He doesn’t want to do the things they can do. Partly because of the Fragile X my son cannot coordinate his body to even walk without tripping on his own feet.

What can J do? He can figure out and use any piece of technology. One day he will figure out passwords and then I’m in real trouble. He loves things that make music and light up. He loves to bounce. He spends a great deal bouncing in a trampoline. He’s very loving. His receptive language has grown so much in the last year. It amazes me the directions he can follow. He loves water. Any water. From the bath to the ocean. He’s very tolerant and patient.

J’s challenges are ongoing. I’m not sure what 2 years from now looks like. Or 5 years. Or 10. I know that today was a good day and that’s all I can ask for.

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