I debated whether to put "important" in the subject of this post, but this is probably the most important post I've ever written, so I went for it. Thank you for taking the time to read it. And, if you can, please share. It means everything to my family to make sure this potentially debilitating illness becomes recognized, because it can have a permanent affect on the long-term outcome of a child's life in a very short period of time if not treated immediately. And as you'll read, even most pediatricians have little to no experience with it, which often results in catastrophic misdiagnoses. The disease is (sadly) becoming more common too, so spreading awareness is incredibly important.
As most of you now know, on August 9th, our then 7 month old son Emmett was diagnosed with a devastating, dangerous form of childhood epilepsy called Infantile Spasms, one that often has a very poor prognosis. Like most people, we had never ever heard of this illness before. Emmett had been doing some strange but subtle occasional head nods for a few days that I was able to capture on video, and despite being reassured by friends and family that they looked like normal baby movements (which they absolutely did), we decided to have them checked out by his pediatrician, just to be safe. Thankfully our wonderful pediatrician, despite not being sure exactly what it was, immediately sent us to a child neurologist. After an emergency EEG, we were given the Infantile Spasms diagnosis, and within a few hours we were checked into the hospital as Emmett went under countless tests including an MRI, lumbar puncture, 24 hour EEG, and numerous blood draws. He was also started right away on a hardcore medication called ACTH that causes extreme side effects. After almost a week, we were sent home, and Emmett spent the next two months getting daily at-home injections in his legs. Those two months were also full of not-so-fun things that included another hospital stay, a 48 hour at-home EEG, countless blood draws and doctor visits, developmental therapy assessments, and a baby who bloated up and spent over two weeks straight during the high medication dose period screaming almost constantly. It was really, really hard.
All of that said, we have (so far) been one of the more unusual cases of Infantile Spasms where it was caught very early, the medication worked, and development seems to be typical. Once medicated his spasms stopped after three days, he is now less than two weeks away from being four months seizure free, he's almost two months medication free, his most recent EEG was normal, his epilepsy genetics panel was normal, and every assessment he's had from Early Intervention has put him within the range of "normal" for development of children his age. We still don't know what caused this, and Emmett will be meeting with a genetics specialist in February in an attempt to hopefully find some answers, but for now, things feel pretty miraculous. I'm actually ugly crying as I type this out you guys, because we are really lucky. And I feel guilty even calling ourselves lucky because that implies that the thousands of other babies and families who are struggling aren't. IS can have many different outcomes, and every single child who has this is incredible regardless. But when I think about what we have gone through this year and how profoundly difficult it's been, and then I think about what other families go through (seizures that cannot be controlled, serious brain abnormalities detected, major developmental delays, constant hospital stays, etc.), I realize how lucky (again, that word) we are. And that is why I have vowed to do everything I can to (1) help other parents going through this (I have something exciting to share about a fundraiser I'm working on in this regard; stay tuned in the next couple of weeks) and (2) spread awareness of Infantile Spasms so parents know exactly what to look for.
And that brings me to 2016 Infantile Spasms Awareness Week, which starts today. IS Awareness Week is a collaborative initiative of the Child Neurology Foundation and the Tuberous Sclerosis Alliance, along with over a dozen other partners, and provides a platform for increasing disease awareness, distributing new research, and recognizing exemplary contributions to the treatment of IS. I'm going to share some important facts about IS with you below (via a seriously awesome infographic from our friends at CNF), but you can read more about the week here, and follow along on social media using the hashtag #ISAW2016. I am also always here to answer any questions you might have about Infantile Spasms or our personal journey. I am also a member of a couple of closed support groups on Facebook that are full of wonderful parents with IS babes, and would be happy to share them with others going through the journey.
I also want to make a pretty thrilling announcement - Emmett's neurologist, Dr. Steven Coker, was chosen as the winner of the 2016 Infantile Spasms Heroes Award! We truly feel that he has been Emmett's angel, so we decided to nominate him. I cried when I found out he won. You can read about him, along with our nomination and Emmett's story, about half way down the page right here.
(Click on infographic below to view full PDF version.)
If you're interested in joining me in spreading awareness of Infantile Spasms Awareness Week on Facebook, you can change your profile picture here, and below is a cover photo you can save and upload (click on the image for full size). You can also follow along on social media using the hashtag #ISAW2016. For those of you on Twitter, there be a Twitter chat to kick off ISAW using that hashtag today at 2 PM EST.
If you're still reading, thank you - for being a compassionate, kind, caring (and patient :)) person. I know it was a long post, and I also know that it can be difficult to relate to a rare disease if you don't personally know someone affected by it. (Although even with those of you we don't know in person, we feel you are part of Emmett's extended family, and we are grateful beyond words for the kindness you have shown him.) But if you are a parent of an infant, or you know any infants, or you know anyone who is pregnant or adopting a baby, or anyone who is planning on having a baby someday, knowing the signs of Infantile Spasms and being aware of it as an illness is profoundly important. If you take a moment to help spread the word by either sharing this blog post, or the infographic above, or utilizing the social media images provided above, I would be so very thankful. You may not even realize what an incredible difference you could make in one child's life just by doing so.
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