Embraced by the SCN2A community

Source: https://www.scn2a.org/

Last week I participated in a second Zoom session with other parents of children with the SCN2A mutation. As I've mentioned, we learned in August 2019, after 24 years of searching, that the underlying cause of Haya's disabilities is that genetic mutation.

The support group I've joined has nearly 700 member families from around the world. 

That Zoom conversation had six other participants. One from Kansas City, one from Massachusetts, one from England, one from Queensland, Australia, one from Germany. It was so interesting and edifying.

The two American mothers were involved with the formation of the SCN2A support group in 2013. So they had history to share e.g. when there were only a handful of members they concluded that the mutation must be limited to those with Irish/British ancestry, which they all had. 

That was debunked soon afterwards.

Next came the revelation that some children with autism have the mutation. Today, with US insurance companies funding genetic testing of autistic, most of the documented SCN2A children are afflicted with autism rather than Early Onset Encephalopathy Type 11 is which Haya has.

 
I also learned a bit more about the difference between Gain of Function and Loss of Function children. It seems that when epilepsy erupts later than the first few months of life, it's most likely that the child has Loss of Function, in which case meds that are categorized as Sodium Channel Blockers will exacerbate seizures. 

That would explain why Phenytoin, one such drug, only worsened Haya's seizures when we tried it several months ago. A neurologist familiar with SCN2A would have known that, since her epilepsy erupted at 14 months old, Haya is probably a Loss of Function child. 

Consequently, Phenytoin was a bad choice of med. But her neurologist has told us that she has no other SCN2A patients.

I recently acquired a list of Israeli doctors who have written articles related to this gene. (The parent from Germany who Zoom-chatted with us shared it with me.)

I intend to inquire whether any of them have clinical experience with SCN2A patients.

Me ZOOMing with the group

I also found out at that chat that research into gene therapy for this mutation has reached the stage of clinical trials on humans. It goes by the name Antisense Oligonucleotide Therapy. 

Unfortunately, if proven efficacious, it will only be beneficial to those who have Gain of Function. So Haya is out of the game.

Finally, it was inspirational to connect with other parents of profoundly affected children who have not institutionalized them, who continue raising them with love and devotion despite the challenges involved. 

I still vividly recall a neurologist advising me to institutionalize Haya when she was one year old! That same advice was repeatedly handed me over the years until she aged out of the educational system at age 21.

When will Israel abandon its archaic approach to caring for its most vulnerable children??? When will institutions like Aleh be shuttered???

In the meantime, readers, if any of you knows of an SCN2A child in Israel, please contact me!