Six years on I can remember the exact moment I opened ‘the’ letter from the geneticist.
There it was in black and white. My son, my precious baby boy, had a very rare genetic disorder
It was something called ARX, aristaless homeobox disorder. Now if you’re like me you will have never heard of this! I did what anyone would do. Yes, I contacted Dr Google!
Now this didn’t help me. This condition is so rare that there are no sites that lay out the symptoms, causes and treatment for ARX. All I could find were coding sites.
I played those words over and over again in my head for days. I had searched for years for something to blame for the horrible things that had happened to my child.
I was still none the wiser.
Would my child be ok? What would his life expectancy be? Will he be able to do what other children can do? Will he live a normal life? The list was endless.
We waited an antagonizing few months before we saw our geneticist. She explained that ARX is rare and there isn’t a lot of research about it. What they could tell us was that it was not a degenerative disorder, so he wouldn’t get worse.
It is a hard to control epilepsy disorder. It can cause lissencephaly, ambiguous genitalia and cognitive impairment.
For Ethan it presents in global developmental delay and hard to control epilepsy.
We are advised to take each day as it comes.
If we can keep Ethan well and get his seizures controlled then he stands more of a chance of living a long happy life.
Ethan’s seizures are the biggest thing for him to deal with. It was described to us that he is always in a state of epilepsy.
His brain is always either preparing for a seizure, having a seizure or recovering from a seizure.
Having a diagnosis allowed me to stop looking for answers. I had my answer to what was causing all of Ethan’s problems. I could stop my search.
My attention then turned to trying to do all I could to give Ethan a full and happy life.
Ethan’s diagnosis does not define him. He is a gorgeous 8-year-old child who just so happens to have a diagnosis of a rare genetic disorder. This will not now and will never stop him from bringing a smile to everyone he meets.