We have been waiting for several months for the results of our genetic testing, and our big appointment is on September 8th, the appointment where we find out if the geneticists at Kennedy Krieger found anything from the Whole Exome Sequence. Yet out of the blue, I received a phone call this morning from Sonal, our genetic counselor, and Dr. Naidu from the Neurogenetics division of Kennedy Krieger. They had the results back a month early and wanted to review them with us. Here’s an excerpt from our communication note:
Mark was found to have a missense mutation in a gene called SCN2A. This is a gene that provides the instructions to make a subunit of neuronal sodium channel. This gene plays a very large role in the brain and is responsible for mediating normal neuronal firing and regulating the sodium channels. There have been many other children who have been reported to have the gene mutation, and it primarily known as the gene in which mutations cause various epilepsy syndromes.
Although this is true, de novo mutations (meaning not inherited from either parent) in this gene have been reported in association with autism spectrum disorders, intellectual disability, and developmental delays. Thus, this is definitely our answer in regards to the underlying cause for Mark…
Well, there’s a first. Mark’s labs produced a definite answer.
I’ve shared this news with a few family members and my co-workers, given how quickly I left work this afternoon. Everyone’s main question seems to center around Mark’s prognosis. Unfortunately, though we know the cause of Mark’s autism spectrum diagnosis, it doesn’t tell us much about the future, or his trajectory. According to Dr. Naidu, the course that we are on with diet and therapy doesn’t need to change. What we are doing is not harming him, and can only help. Though at this point there are no gene therapies, cures, or treatments available, that doesn’t mean that there won’t be in a few years with more research. With or without a potential research breakthrough, I feel hopeful that Mark will make improvements. I’m thankful that he hasn’t experienced a seizure thus far, and I pray he never does.
The trouble is this gene mutation is relatively rare and currently, Kennedy Krieger only has one other patient in their database with it, and her condition is further complicated by other gene mutations, making her condition much more severe. There is a database of families with gene mutations linked to autism and I plan to further explore this to see if I can connect with other families.
My biggest prayer request would be that God would protect Mark from serious illness so we could avoid a potential febrile seizure. The doctors want us to be super vigilant, keeping him home from school and daycare when other children are sick, avoiding crowded places, and seeking immediate medical treatment for less serious illnesses to avoid fever and complications.
It’s possible that Mark will catch up significantly, though it’s doubtful that he will ever be 100%, per Sonal’s earlier conversation with me. She said that children have made great strides, going further than they ever expected based on their genetic map, so again who knows, Mark could be a trailblazer.
I’ve done a significant amount of research with regard to autism, and the more articles, books, and podcasts that I soaked up, the more I felt responsible for his diagnosis. The flu shot I got, the foods I ate or didn’t eat, the antibiotics he received through my breast milk, choices I made, big and small. It all left me feeling like I held the key. Now I feel a significant sense of peace knowing that I did nothing to cause this. It was a random occurrence that was not influenced by anything I did or didn’t do. Though the tremendous amount of guilt that I’ve been carrying around has been somewhat lifted, the challenge of working against genetics is daunting. “Recovering” Mark seems less feasible when his genes say something different, but I’m up for the challenge, bring it.
Have I not commanded you? Be strong and courageous. Do not be frightened, and do not be dismayed, for the Lord your God is with you wherever you go. Joshua 1:9
6 thoughts on “Our answer: SCN2A”
My son was diagnosed with Scn2a due to his seizures. The gene was not inherited from his father or I. He does not have autism or any other intellectual disability, but I’m afraid for him as neurology stated he has a 50% chance of passing the gene to his offspring( not that I’m thinking that far ahead). It is scary to think of this rare gene. I try not to claim it.
Hi Lisa! I just sent you an email. Please either comment back or reply to the email. I would love to connect! ~ Angie
Hi Lisa, I just came across this in my search for more info on this gene mutation. Looking at the date of this post I believe the little girl you are referring to may be my daughter! She had WES done in October of 2014 showing the SCN2A mutation as on of her gene mutations. She does have multiple other heart and birth defects as well as the global delay/intellectual disability. She will be 9 soon and (fingers crossed) she has never had a seizure.
Just found out my daughter has this mutation. She is 14 and functions at about a 9 month old level. She is non verbal and non ambulatory. Happy to finally have answers but we feel so alone.
Katie – where are you located?
Thanks for sharing this with me Angie ?