Monday, August 14, 2017

One Year Seizure Free!

First birthdays are a huge deal, for all kids and their families. But in the world of epilepsy, there is another major one year celebration that we desperately hope to achieve: one year of seizure freedom. And yesterday, we got to celebrate that day with our son Emmett. I honestly can't put into words what this day meant to us, or how much different life was for us one year ago on this day. We are so incredibly grateful.

For those who don't know, when Emmett was 7 months old, he starting doing an occasional movement that just seemed a little "off" to me. It was incredibly subtle, and mainly looked like reflux. (He would do a little shrug, and every now and then his head would slightly bob - which is common for babies.) It happened for a few days, and while everyone who saw the videos I took felt that it was nothing unusual, we decided to take him to his pediatrician. His pediatrician didn't seem overly concerned, but referred us to a neurologist, just in case. Long story short, less than 24 hours later we were in the children's hospital with a diagnosis of Infantile Spasms, the most dangerous (literally labeled as "catastrophic") form of childhood epilepsy. The prognosis with the vast majority of IS kids is very poor. The seizures are difficult to stop, the treatments have horrific side effects, and most children with IS have developmental delays, cognitive issues, and physical challenges. I can confidently say that this time last year was the absolute worst period of my life. I have never been so sick with fear. To have what you believe is a completely healthy baby and then be told, almost overnight, that he has an absolutely horrible disease that is profoundly difficult to treat, is devastating.

Emmett underwent countless tests (multiple EEGs including a 48 hour video one we did at home, MRIs, spinal taps, genetic tests, multiple blood draws, and more) and was started on an intense, expensive ($34,000 a vile; he needed several) medication called ACTH, which had to be injected into his thighs (by Robbie and me) over a two and a half month period - first twice a day then tapered down to once, then eventually to every other day. The medication was the worst part of the journey for us, because of its side effects. In addition to causing children to develop Cushing's Syndrome (weight gain, "moon face," etc.), it causes reflux, blood pressure issues, and horrific irritability. While on the highest dosage of this medication, Emmett completely stopped smiling. We had to sleep sitting up and holding him upright or he would scream and writhe in pain. He nursed around the clock, and had an insatiable appetite. (I have tears pouring down my face writing this; it's not easy to relive.) Our happy, engaging son was replaced with a shell whose only emotion was misery. But the medication worked. Since August 13th, 2016, Emmett has not had another seizure.

A couple of weeks ago, Emmett had his yearly assessment by his developmental therapist, occupational therapist, and physical therapist, and was evaluated as not only completely on track, but ahead in several areas (including speech; something he was slightly behind on when first assessed!). He is truly just a typical little boy who loves running, swimming, climbing, reading, coloring, and playing with his sister and other kids. We were told at his therapy assessment that he is a "miracle." We do not, and never will, take this for granted.

To this day, we have no idea what caused Emmett's Infantile Spasms. His MRIs showed a normal brain. His genetic testing came back normal. His bloodwork was all normal. His lumbar puncture was normal. The best guest from his neurologist (who by the way was absolutely incredible; we feel he saved our son) is that he had a random, spontaneous genetic mutation (every human has an average of 40 of them!) that manifested as IS, and that the medication rebooted his brain. Whatever the cause, in April, his Infantile Spasms diagnosis was dropped. If he can remain seizure free one year from now, his epilepsy diagnosis can be dropped as well.

For now, we are celebrating! Yesterday, after his sister's dance recital, we got a special cake for Emmett in honor of this massive milestone. We couldn't be happier or more grateful.

Happy Father's Day!

There is so much more to the story, so if you're interested, you can read about the journey right here. And if you come across this because you have a child with Infantile Spasms, or you know someone with a child who has IS, please feel free to reach out to me. I have made a lifelong vow to help other parents going through this, and it is my hope that when Emmett is old enough, he will be able to do the same. We are one of the rare cases (5-10%) where our child will likely go on to live a "normal" life (not a fan of that term, but for lack of a better word). Most other parents of IS kids continue to face challenges that are now in the past for us. I want to do whatever I can to be there for them. I also want to say that being in a IS support group has taught me so much - the greatest lesson being that no matter what the outcome with these strong, brave kids, they and their parents are able to find the same level of happiness (or honestly, even moreso) than those of us with "typical" kids. Love is powerful you guys. It is the greatest healer. And If you want to meet a truly inspiring child who can teach you some incredible life lessons, get to know a child struggling with IS or the other challenges that can accompany it.

My Little Loves
Summertime Family Story Night

Every single day I thank the universe for how fortunate we are. I am admittedly a very different person because of this - because of the trauma, yes, but moreso because of the intense level of profound gratitude I feel every single day. I will never stop thanking all of you - our extended group of kind, generous friends and family who helped us on so many levels while we were in the worst of this. You know who you are, and not a day goes by that I don't think about what you did for us and for our Emmett.

If you're still reading, thank you! And to my beautiful, happy, sweet Emmett - I love you beyond words. How lucky I am to have you as my son, and to be able to celebrate this amazing milestone with you.

P.S. Check out this awesome Today Show clip featuring Miguel Cervantes (the lead in the Chicago production of Hamilton!), whose daughter is fighting Infantile Spasms. I feel so much gratitude to him and his wonderful wife, who continue to work so hard to raise funding for and awareness of this awful disease.



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