I was standing in a gas station parking lot in late 2014 when I received a phone call from the Neurodevelopment Clinic at Kennedy Krieger. The doctor who recently evaluated Mark was calling to inform me of the next battery of tests, but it was her parting lines that left me stunned. She said that she was very concerned about Mark, and that autism, the thing I feared most, was the least of our worries. I didn’t even have a chance to wrap my head around the “least of our worries” and now we were left to imagine something worse. An MRI and EEG were to be done, along with with more blood work, and a referral to Neurogenetics, a division at KKI that would do more extensive testing to help us search for an answer.
While we waited for the genetics appointment, Mark received his Autism Spectrum Disorder (ASD) diagnosis that we assumed he would receive. This diagnosis, however, never seemed to fit perfectly. Mark had some autistic tendencies but had a variety of other challenges including hypotonia, significant struggles with with gross and fine motor skills, eating and digestive problems, and faced a number of challenges with his ears, having surgery when he turned one to have his adenoids removed and tubes placed. To no avail, I tried desperately to put all of these strange pieces together.
The Neurogenetics team recommended that we do Whole Exome Sequencing to look at Mark’s DNA to determine what potentially was happening. Blood work was done that spring and on August 11th I received a phone call that the results were in and they wanted to go over them right away. Sitting at my desk with my pen in hand and a notepad I feverishly scribbled what I could understand. I’ll never forget Dr. Naidu’s voice coming on the call saying “S as in Sam, C as in Cat, N as in Nancy, the number 2, and A as in apple.” Our genetic counselor, Sonal, explained that Mark had a missense mutation on the SCN2a gene, which presented a problem in the sodium channel that played a large role in brain development. Words used included “intellectual disability”, “cognitive deficit”, “ceiling of capabilities”, and a very serious possibility of epileptic seizures that could pose a variety of problems including regression of skills, difficulty breathing and eating independently, along with a host of cascading problems which could result if seizures commenced.
I turned off my computer, left work, and headed for the car. I went to my parents house, shared the news with Ike on the way and then sat motionless in front of a laptop on the back porch afraid to Google: SCN2a. Our genetic counselor had told me that there was a Facebook group in existence maintained by parents of other children with the mutation. There was also a website, www.scn2a.org.
We weren’t alone. In fact, that afternoon, after being a recluse from Facebook for several months, I logged on and found the FamilieSCN2a group. I immediately connected with the group administrators and learned that Leah, the president of the board, and founder of the group, lived 20 minutes away. After several phone calls and many Facebook messages I began to get to know some of the other families in this group. I became acquainted with a fierce, intelligent group of parents determined to find a cure for this gene mutation that robs their children of so much.
I write all of this because after my most recent blog post, Hope and a Future, I received a number of emails, texts and Facebook messages from people who had read my blog and felt some contention about what I had written. Philosophically, there remains a tug-o-war between accepting neurodiversity, and fighting it, opting for “normal”. As a parent of a child with a disability, I constantly try to balance embracing and loving him for who he is and where he is, with pushing for where he could be, fighting for his potential. I write, fund raise and research, not to fix my son, but to fix the gene mutation that may potentially rob him of a future.
There are approximately 200 cases of SCN2a gene mutations worldwide, with 120 families connected through our group on Facebook. With the exception of Mark, and a handful of other children, most kids in the group experience devastating seizures, for some, we’re talking thousands per day, and a few of these sweet babies were seizing in utero and upon their birth. Many children in the group have cerebral palsy diagnoses, ASD, ADHD, developmental delays, intellectual disability, movement and speech disorders, GI issues along with vision impairment. Many have feeding tubes, frequent hospital stays, some are in wheelchairs and a few are unable to breathe on their own. Sadly, we have already lost five children to the catastrophic effects of the SCN2a gene mutation. So when I talk about my intention of finding a cure, this is what I want to cure. For my son, and all of the other children suffering from the effects of SCN2a. I love Mark the way he is, I really do, and I am very thankful for how healthy he has been given how he could be, but I want to see him make it through childhood, and would love to not live in fear of seizures and the resulting deleterious effects. Please join me in praying and fundraising for a cure so that Mark, and children around the world have a bright future free of seizures and related disorders.
To see the beautiful faces of children impacted by SCN2a please watch this video
Many people have asked how they can help.
There are three great ways to give!
If you shop on Amazon, click on the image below, search for FamilieSCN2a. Once selected, Amazon will donate 0.5% of your purchase price to the FamilieSCN2a Foundation each time you shop.
An anonymous donor has offered to match all donations up to $10,000 starting February 1st through April 30, 2016.
PLEASE help us take advantage of this excellent opportunity to double our fundraising efforts. We have some promising research projects in the pipeline that will need funding very soon. Help us reach our goal of awarding the first FamilieSCN2a Research Grant of $50,000 by July 1st! Click on the image below for more info.
Click on the image below to join us on April 30th for the Color Dash in Middletown, MD!