SCN8A Encephalopathy

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February 9th 2017, was the very first International SCN8A awareness day. It’s also the birthday of Shay Hammer, the first known SCN8A case. Her SCN8A mutation was discovered in 2011, just two weeks after her death.


So what is SCN8A?

For us, it’s being told our child likely wouldn’t survive to see his second birthday. It’s watching your child suffer through periods of hundreds of uncontrollable seizures a day. It’s seeing your child stop breathing and turn blue over and over and over again. It’s knowing that every car ride comes with the risk of choking, it’s multiple code blues, medically induced comas, repeated bone fractures without cause (9 in one year for Foster), kidney stones, chronic pain, feeding tubes, oxygen, suctioning, rescue meds and wheelchairs.
It’s spending 2-3 days every week in the hospital (we’re here now, day three this week) at baseline, just for your routine appointments and treatments. It’s neurologists, physiatrists, endocrinologists, nephrologists, urologists, cardiologists, pulmonologists (is that a word?) G.I. Doctors, hearing clinic, genetics doctors, surgery clinic, after surgery clinic, after surgery clinic, sleep clinic, oh ya the paediatrician, PT, OT, SLP and palliative care. To name a few.
It’s being told, “we have no cure” “it’s minimally treatable at best, even from a comfort and quality of life standpoint” and “to expect you child will pass at some point in early childhood.” It’s saying goodnight 365 nights a year knowing that your child could be gone in the morning. It’s celebrating inchstones instead of milestones, like a first laugh at 3 years old. Then repeatedly losing all milestones (including that ridiculously photogenic smile) for weeks or months at a time.
That’s a lot! But our goal this first ever awareness day was much smaller, just to know that we exist, that these kids matter to us and they should matter to you 🙂

 

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What I love the absolute most about this little boy of mine, is that he has suffered through some of the most unimaginable pain and experiences in his little life and yet there is not one, not one, conscious moment that he doesn’t beam.