January 2016 – Mighty and the Bean

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.

The night of Mark’s overnight EEG

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.

Smiling during an evaluation

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.

Notes I took during the genetics call

What You Need to Know About SCN2a

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.

Ben (Leah’s son) meeting Mark for the first time

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!

Last night while Jillian was at a birthday party, the three of us made a trip to the grocery store. We marveled at how easy it was to shop with just one child, instead of two, but without Jillian there to add in some normal, we became a bit more vulnerable. While in the check-out line the cashier made several comments about how handsome Mark was. This exchange would most certainly not occur if my limelight starved daughter was there. In response, we smiled and said that we agreed. She looked over and corrected the potentially autistic boy bagging our groceries, and then she pressed on by saying that Mark was going to grow up to be a heart breaker. And all of a sudden an ordinary exchange turned into a moment that made us stop in the midst of the routine and take inventory of where we were. As we left the store Ike made the comment that instead of being a heart breaker he may be the boy trying to bag our groceries.

The thing is, I don’t know what Mark will grow up to be or do, and I don’t think about it. Not because it’s painful to think of him being unable to function independently, or unable to have a more complex job than a grocery bagger, but because I can’t see it. When I think about his future, I can’t make it past the mountains in front of us, like learning to use a fork, putting on his own coat or coloring with a crayon. I’ve also never been good at looking into the future and picturing how things would look. As a kid I never knew what I wanted to be when I grew up, and as an adult who recently went through the home building process, I struggled with picturing how things would be. And I think for me, it’s safer that way.

Mark is beautiful, outside and in. Each time I have to fill out a survey or evaluation for treatment or therapy, it will ask about his strengths or inquire about his demeanor. And every time I write words like “happy”, “joyful”, “smiley”, “content” and “full of laughter”, because he is all of those things. And on these surveys I feel somewhat victorious when I get to select “never” to questions about common autistic tendencies. He doesn’t line up toys, avoid eye contact or make wheels spin on his cars. He does run around with a toy shopping cart squealing with delight, brings us books to read, and he stands on his trampoline saying “go!” to entice us to come over to make it bounce because he can’t figure out how to jump himself. As I type this, he’s absolutely delighted with the fact that he was able to successfully shove his toy mower up on top of the island in our kitchen. He’s peaceful and content, and loves it when we hold him. In fact, he’s now curled up in my lap gently fiddling with the fabric on my knees.

Make it “go!”

Yet with the good, comes all of the challenges. Mark can’t sit still, doesn’t understand most of what we say, can’t point, clap or wave, and struggles with learning every new skill. When he successfully learned how to travene stairs, we were overjoyed. Everything is hard. And as much as I don’t want to change my beautiful boy, the things he will need to learn in the coming years will be significantly more complex and challenging compared to drinking from a sippy cup and learning to go up and down stairs. I do dream that it would be easier for him someday.

Playing cars WITH his cousin

I’m optimistic about his future, and not because we pour countless hours of intervention into him but because we are in an age where genetic discovery is moving at lightening speed. Current science fuels my blind optimism. It took us almost all of 2015 to figure out what was going on with Mark, and after one blood draw at the KKI genetics department, and four months of sequencing in a lab, a report returned telling us the very answer we had been seeking. We found the problem. And now in 2016, and every year following, it will be my mission to fix it. Because now that we have identified the genetic mutation we are that much closer to identifying a way to fix it or at least tailor treatments based on his genetic profile. The testing Mark underwent only became available as a diagnostic tool in late 2011. Five years later families around the world are identifying exactly what went “wrong” and researchers are working diligently to determine gene therapy methods and ways to eventually repair the gene. And that is why I will fund raise, research and put my heart into advancing toward a cure. I hope to someday eliminate the fear of seizures, developmental regression, motor dysfunction and potentially degenerative effects based on his mutation, so that one day, Mark can choose between being a heartbreaker or a bagger at the grocery store.

Mighty and the Bean

For I know the plans I have for you,” declares the LORD, “plans to prosper you and not to harm you, plans to give you hope and a future. Jeremiah 29:11

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