Finding Light and Hope in the Windy City

Word CloudThe majority of the time I’ve used this blog as a therapeutic outlet for the happenings of our family’s life and a place to share the things on my heart. And today I wanted to do something a little different and write about a conference that will generate ripples of impact for years to come.

This past weekend we traveled to Chicago for the first ever, FamilieSCN2a Foundation Family and Professional conference. Medical researchers, professionals, scientists and neurologists came together with 25 families impacted by the SCN2a gene mutation to share knowledge and experience that will open doors for further discovery.

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Among the attendees was a pediatric neurologist, Ingo Helbig of CHOP (Children’s Hospital of Philadelphia) who has dedicated his career to studying epilepsy genetics, and writes a blog called Beyond the Ion Channel

In response to attending our conference he wrote a blog post during his flight home from Chicago which summarized the five things he learned during the weekend.

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This inspired me to write about the five things that I learned during my time in Chicago. Though the science was incredibly fascinating, what impacted me most was the power of the families.

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Here’s my list:

  1. “Friending” my Facebook “friends”

Our first night of the conference was spent manning the early registration table helping families check in, giving out general information and primarily putting faces to names. The first parent that walked off the elevator I recognized immediately and was thrilled that she had traveled from Canada to be here. Remembering a recent post about her son being seizure free for 100 days I congratulated her on their victory. She went on to tell me that prior to this seizure free stint her son’s medical team told her to place him on palliative care because they had reached the end of the road with seizure drugs, nothing was working and her son was not doing well. She chose to bring him home to die and then decided to try just one more drug, a drug that they had tried when he was younger, and even though it previously failed him, this time it worked. Her son has been free from seizures for four months, and a party was planned when she returned from the conference.

This experience of storytelling repeated itself each time we spoke with a new family. We learned their story, and had tremendous respect for their dedication and love for their children.  Since becoming part of the SCN2a group on Facebook I have probably gained 40 or 50 “friends”. I comment and like their posts, but none of it was ever really real, until this weekend. We met with, gave high fives, hugged and held other children with SCN2a. We became friends with our “friends”.

 

  1. We’re not out of the woods

I’ve written about my deepest fear before, but it faced me head on during the conference. I connected with three parents whose children fell in the “later onset” group who were developmentally delayed, had autism diagnoses, and then one day seizures started. They lost the progress they had made and were forced to relearn skills, again and again. The maddening cycle of trialing meds began and then the cascade of medical concerns surfaced. Some of the kids in this category have ended up on feeding tubes, and deal with a variety of concerns including lowered immunity. While this could send me to a very dark place, living in fear of seizures, and Mark spiraling backwards, I can’t go there, it won’t benefit Mark, or me. Knowing that someday we may face these challenges, I do take comfort in knowing that incredibly wise, inspiring parents have walked this path before us and are there to hold our hands through possibly getting a g-tube, trying the ketogenic diet or trialing AEDs (antiepileptic drugs).

 

  1. It’s not black and white

Throughout the conference I had a running list in my head of parents I wanted to connect with for one reason or another. And one of them was a father who uses a biomed approach (nutrition and supplements) with his two children who share the exact same SCN2a gene mutation, meaning they have the same variant, which gives the specific location/function on the gene. And even more baffling, the father has the exact gene mutation as well but is completely unaffected. His daughter suffers from severe, debilitating epilepsy and his son has severe autism. The exact same mutation, with no impact on the father, and profoundly different impacts on his two children. Whatever I thought I knew about SCN2a I felt like I needed to throw out the window. The “genetic shapeshifter” as SCN2a has been called lives up to it’s name in this one family. Yet even more compelling was the momentum and drive this father has to continue to push forward after being on this puzzling journey for 13 years. Seeing the love in his eyes for his children was so encouraging and gave us fuel to keep turning over the stones.

 

  1. Departure from the hammer approach

One of the things I heard parents talk about repeatedly was what drugs have worked, which haven’t, and the frustrating cycle of treating the side effects of the drugs with other drugs. One of my favorite presentations, that Ingo also mentions in his more scientific and sophisticated take on the conference, was by Dr. Anne Berg, an epidemiologist, who has spent 25 years researching pediatric epilepsy and cognitive consequences. She included an illustration demonstrating the current medical approach showing a hammer being used for the purpose of driving nails, screws and other metal fasteners. Obviously the hammer will only work for the nail, and for other materials things like screwdrivers are more appropriate. Our current approach to addressing problems like seizures, not dissimilar to the hammer illustration, is to begin throwing medications at it with no real rhyme or reason, just what worked for some kids. The future of treatment will rely heavily on personalized medicine, and understanding what specific approach will work with each child and their unique mutation and presentation. She referenced pediatric cancer, and how each child who is diagnosed is automatically put into a database, and enrolled in a research study providing cutting edge treatment. The parallel concluded with survival rates near 90%. This is possible and can happen with SCN2a.

 

  1. There is HOPE

Friends, we are in an incredible age of discovery. Five years ago, Whole Exome Sequencing (the testing that helped us discover Mark’s problem) was not readily available, extremely expensive and not routinely ordered. Now, this testing is done way more frequently, and is mostly covered by insurance. SCN2a is part of more epilepsy blood work panels run by neurologists attempting to treat children with seizures. And our hope is that by educating our community on the prevalence and significance of the SCN2a gene mutation, and the diverse presentation of phenotypes (how the gene mutation presents in children, i.e. autism, epilepsy, intellectual deficit, movement disorders and schizophrenia), more genetic counselors, neurologists and physicians will consider ordering genetic testing, even in cases of autism with no seizures.

But even more than that, there is incredible momentum in the scientific community with multiple labs, using a variety of approaches to creating different cell models, mouse models and trialing drugs to determine specific treatments. And I think perhaps the greatest take-away from this weekend was the intelligence that the SCN2a families themselves possess. During each Q&A session, we wrote questions on pieces of paper and passed them to the front for the speakers to answer. The piles of notes contained so many incredibly complex questions that brought about such meaningful discussion. It was during these sessions that the information became relevant to our kids, and demonstrated that we are a serious group full of tenacity. Together with the brilliance of researchers, we WILL find a cure.
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This post was written for the families who attended, those that could not, and our village of supporters who consistently back us by attending our fundraisers, sharing our posts, and for loving us where we are in this journey, on the hopeful days as well as the dark.

Thank you for helping us let the light in and keep the hope alive.

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