"Is there a cure?"…  The answer was "no".

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If so, I thought, the fact we have found the genetic source doesn't really make a difference. Now I know it makes a huge difference. Still, those were my thoughts back then.
 

Are you familiar with the type of parents that read every possible research on their child condition and becoming experts?  this is me. So, on the same night we got the genetic findings, I started writing to researchers working on the CHD2 genes. I read all scientific publications, and learned some genetic so I can understand what I read. While it didn't produce any cure, it did give me a feeling I am progressing things – I did manage to connect between researchers of our gene and exchange interesting ideas between them, but I am getting off track, this clearly not yet your story.

So, while being in constant research mode, my focus was more on epilepsy rather than genetics at the time, epilepsy was something very present in our lives. Until one evening on a Facebook chat, Shira (the foundation co-founder), asks me about my son mutation type. I didn't know what are mutation types at the time. I fetched the genetic report we did few years back, and saw my son has a nonsense mutation. Shira told me

 

     "You know that there are medications for nonsense mutations?" well…. I didn't.
 

At start I couldn't believe her, how come no one have told me about it? I keep in touch with my son's gene researchers, I kept touch with the geneticist that handed us the results few years back. She even became a professor during those years, yet she didn't tell me a thing. The only one I didn't expect to be aware of it is my son neurologist, although is our primary caregiver, this is genetics after all and not neuro science.

So, I did my thing, and researched this subject to realize she was correct!

 

    There are medications for nonsense mutation that can potentially cure all sorts of disorders.
 

You can read about those medications in our "Is there a cure?" page. I put my eyes on a medication called Ataluren. This is a medication currently targeting Duchenne syndrome, which is a muscular genetic disorder, but it is a medication that can also reach and affect the brain. So I went to the neurologist that escort us for many years, we became close over the years… my family spends a lot of time in his amazing department. I explained to him about nonsense mutations, about the mechanism and why he should let my son try it off label.

"I can't" he said.

We were the first family in Israel to try all sort of drugs or treatments for epilepsy. Drugs that required special import rules, with a lot of bureaucracy, some off label. With the help of our neurologist and my wife persistency, we bent everything that was bendable, but here struck a wall.
 

"This is genetics and I am neurologist" he said. "I just can't do this, sorry."
 

The discussion was sealed. He did send us to the hospital genetic department. This department don't tend to treat patients, they mainly see you when you get your genetic test results or when you want to bring kids. They certainly don't prescribe medication to patients. So, when I met with them and asked to try Ataluren under a compensate care treatment, I wasn't so surprised to be refused, they clearly not the ones that will fight for my son.

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Now I face what I call the wall and the hole, the professional physicians that all genetic patients go to, based on the disorder symptom are usually not genetic experts – hence the wall. While the Geneticists don't usually treat patients, and this is the hole.
 

What about my son? Could there be a medication that might be suitable for him laying on the shelve and I just need to sit aside and see him fade away from us?