My story is your story, it’s our story
My name is Ran, I am a father to child with an ultra-rare genetic disorder in the CHD2 gene. I live in Israel, and I want to share with you my story which is not really mine - if your child's mutation type is nonsense, you will see yourself in my story as well.
My son had an epilepsy since the age of one, an epilepsy resistant to drugs, but only at the age of 3 he got diagnosed with a genetic disorder. When we got the genetic testing results, I asked the geneticist
We didn't know what life planned for us
"Is there a cure?"… The answer was "no".
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.
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?
I can only guess that just like me, you didn't know much about mutation types when the genetic report was handed to you. I presume no one explained to you how critical it can be to know the mutation type. If you ask your child primary caregiver about nonsense mutations or about Ataluren or any of the nonsense mutation medications, most chances he wouldn't know about any of this. If you try and get Ataluren yourself for any disorder that is not Duchenne, you will face the same wall I faced. If you will ask a geneticist to prescribe this for you, you will face the hole I was facing. The bottom line, you should know that your child might have a medication that could help him, an existing commercial medication, that is out of reach
This where your story and mine becomes our story.
Our foundation focus is that any nonsense mutation drug would be accessible (or at list clinically tested) for every disorder or gene it might work for. This is true, without any relation to how rare is the condition or from which gene it came along. We have geneticists, researchers and physicians that work with us closely, supporting our goal.
You should know there are unique techniques that exist for nonsense mutations that allows science to assess good candidates for certain treatments – we strive to develop those technique and improve them into a clinical level that will help you get the right medication and help pharma's that are developing medications for nonsense mutations.
Thanks, for reading
I am the president and co-founder of the nonsense mutations foundation. I invite you to join us, this is the only way we can broaden the usage of existing and future medications.