Our Village

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Last night I stood in my high school’s auditorium watching as people began to fill the seats in anticipation of Godspell, an encore show that Boonsboro High School Drama was doing in honor of our family, to raise funds for FamilieSCN2a Foundation. I could feel the buzz in the room, see my friends and family who came to support us, and as I glanced up at the screen that showed a picture of me holding my little boy, I was flooded with the memories of events that brought us to this place, where we have been so cared for and loved.

Mommy & Mark on the screen

I thought back to the moment when I was sitting in a waiting room of a hospital in Baltimore holding Mark as he clutched his blanket, receiving the results of his ABR testing that measured his ability to process sound. We learned that he could hear, and as odd as it may sound, I was disappointed. I had prayed earlier that morning that they would tell us that he was deaf, and that it would be a less painful explanation for why he ignored us. Then I remembered the office visit where we were officially told he had autism. And finally the memory of being handed the SCN2a diagnosis, learning that autistic features are just one part of a larger, rare disease. The weight and gravity of this pulled me into a very dark place where I was angry and wondered what I had done to deserve this path in life.  My sweet, beautiful boy who we named after both of our fathers faced a life of intellectual deficit, lifelong autism, a variety of puzzling medical problems, and the propensity for seizures, which in and of itself could lead to a number of other catastrophic complications, including death. I’ve typed and retyped these lines several times and settled with what I included because there are no words to describe the loneliness and sadness we felt.

 

For those of you familiar with our story, you know that we quickly became connected with the FamilieSCN2a Foundation, found motivation to fight for a cure and the support we needed to dig ourselves out of our dark place. Our connection with the other families impacted by SCN2a lead us to our first large scale fundraiser, held last weekend. 500 people came to Middletown Community Park to show their love and support, and as the Color Dash kicked off, I was walking alongside Mark’s physical therapist, my children and our best friends, and I just began to cry because I remembered all of those lonely medical trips where we learned more and more troubling news, and I would have never imagined that my community would rally around us the way that they have. As we headed past each color station, I saw friends from high school band, family, co workers and parents of children from daycare, and I just felt so embraced. I knew that this day would be a day to remember forever and I was incredibly grateful.

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Then on Tuesday night, I sat in my office at work waiting out the rain at the end of a long day and I received the following message from Mr. Bair:

Michael J. Bair

Angie…on April 28, 29, and 30th, BHS Drama performed “Godspell” to packed houses.  The play was such a success that folks have begged me for an encore.  I said that I would only do one if I could find a cause to support.  It feels like greed any other way.  I know we can pack the house again, and we will just be sucking cash from the same folks.  Instead, I would like perform the show as a fundraiser for your charity.  If you know of someone who needs immediate financial help with SCN2A, I could just as easily do that.  Regardless, I am on a time crunch, and if nothing else, we would like Ike and you to be our guest of honors, and perhaps, you could come up and share a little about the condition.  That’s not mandatory.  Just let me know ASAP please.  I must advertise immediately.  Blessings!  MjB

 

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I was stunned, touched and overwhelmed. I didn’t think that anything could top the community love I felt at the Color Dash, but having a drama production at my Alma mater in honor of us and to raise money for the foundation, took the cake. The event was shared over 100 times on Facebook, the auditorium was packed, and about $2,000 was raised. But even greater than the donation that we are so grateful to receive, was how Mr. Bair and the cast embraced us and made us feel so incredibly loved. Godspell was quite the fitting show for what transpired last night. They showed us the love of Christ.

 “Truly I tell you, whatever you did for one of the least of these brothers and sisters of mine, you did for me”. Matthew 25:40

I will always cherish the opportunity we had to pray with the cast before the show, and to share our story with a room full of talented students who were willing to do a production just one more time for the purpose of finding a cure for our son and other children who suffer from SCN2a. We know how much these productions suck the life of out of the cast, and understand how big of a deal it was for them to do it once more. And I will never forget receiving so many genuine hugs from the cast at the end of the show.

I love what they did, and how they did it. I hope that each and every one of them understands what a seminal moment last night was for us, and that they now have a place in our story.

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As I write this, Mark is sitting next to me on the floor humming as he flips through the pages of his books, and I am envisioning the day that he will be able to read the words on the pages out loud, and we can savor the beauty of a voice that a whole village had a hand in bringing to life.

Cure for What?

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

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

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

Notes I took during the genetics call

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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

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.

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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.

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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.1430

 

 

Click on the image below to join us on April 30th for the Color Dash in Middletown, MD!

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