Jay-Z, Little Orphan Annie and Us

It’s the hard-knock life…parenting a medically fragile child is full of difficult and painful experiences.

My five year old daughter recently became obsessed with the movie and soundtrack to “Annie.” I loved the movie as a kid as well but this whole hard-knock life has a whole new meaning to me now, as we raise my son Elliott, who has a rare and catastrophic genetic epilepsy. There are also some very different parallels to the Hard Knock Life (Ghetto Anthem) song by Jay-Z that we danced to in college, but we’ll save that for later.

[embed]Video of “It’s the hard-knock life” from the movie Annie, 1982.

The life of a special needs parent is a practice in ongoing exhaustion and mourning. You dream about how incredible it will be to raise this little human— sharing hobbies, wowing your kid with bad jokes or magic tricks, teaching them to ride a bike, getting hugs and “I love you”s from them. All of these dreams slowly faded as my son got older. At first, the pediatricians pooh-poohed our concern about these, what they called, “exaggerated startle reflexes” (beware — these are often mistaken as such but are very dangerous “jackknife” seizures, known an infantile spasms, that must be treated immediately!).

[embed]Infantile Spasms Action Network | ISAN See the signs: Clusters of sudden, repeated, uncontrolled movements like head bobs or body crunching. Take a video…infantilespasms.org

We noticed that Elliott kept missing developmental milestones. The seizures had not subsided—in fact they worsened—after many months of upping what we now know was an utterly useless drug against this type of seizure. But, we still hoped that the day may come when Elliott would catch up and these pesky seizures would fade away. We were told that the seizures would either resolve or morph into a different form of epilepsy. We soon learned that we were in the dreaded latter category. We watched as our child seized over and over again—imagining his poor brain cells dwindling every time—and could do nothing.

Elliott received a diagnosis of SCN8A-related epilepsy when he was about 15 months old. The doctor handed us a single article and said “we only know of 12 other cases in the world and we have no idea about Elliott’s prognosis or how to help him.” I think my jaw did actually drop to the floor and I sat stunned for a minute as I held my sweet boy in my arms.

How life with a special needs child can be a “hard-knock life.”

Our life would become filled with 911 calls because we couldn’t stop the seizures, life and death hospital stays, surgeries, guessing at which medication to try next — only to have it fail, missing milestone after milestone. But, we were so consumed with Elliott’s 24-hour care and keeping him alive that we didn’t have time to mourn. As Jay-Z says in his version of “It’s a hard-knock life,” “I don’t know how to sleep, I gotta eat, stay on my toes.” When you are the caregiver for a medically fragile child, you learn to get by on little and very disrupted sleep. You eat, but often it is just peanut butter on a spoon. And holy cow, do we stay on our toes — constantly on the lookout for a seizure that could end your child’s life, managing a calendar jam packed with appointments with specialists, constantly ordering meds (when there are 25+ of them, you’re never fully on top of it!), many of us working full time jobs in addition to caring for our special needs children and possibly other children.

In the beginning, I had a hard time being around other children — I was deeply jealous, angry and convinced that these other blissfully unaware parents had no idea how lucky they were. I worked on feeling less so I could focus more on the constant tasks at hand.

Luckily, that day we got the diagnosis, I had my go-getter mother in the room with me and she said something along the lines of “Well, what can we do?” I am so grateful that we didn’t have one of those doctors who have told other families like ours “go home and love your child, there is nothing we can do for them” or “they probably won’t live long.” What our incredible doctor said was that the time was ripe for funding research and pushing the science forward.

Fast-forward seven years later and we have a well established foundation, Wishes for Elliott, that has funded early career scientists to do basic research into SCN8A, we’ve hosted scientific meetings, worked with pharmaceutical companies, supported a patient registry. It’s been incredible but we still get knocked down.

[embed]Video of Elliott smiling on an exercise ball during therapy courtesy of the author.

But…we get up again (as you might guess, I am resisting making another song reference here!).

We learn to live in the moment — treasuring the purity of the love and connection. While I don’t get to fully share my love of cooking with Elliott, teach him the intricacies of soccer or watch him find his own hobbies, I do have an amazing bond with this human. He is the most patient, trusting, resilient person I’ve ever met. The joy he brings me and the powerful, non-verbal ways he tells me he loves me are beyond words.

And we’ve learned to believe in tomorrow. While every night we go to bed with the fear that we’ve just had our last day with our beautiful child, we also have hope that “the sun will come out, tomorrow” and we’ll be gifted with another day of snuggles, sweet laughs and this bright smile.

Smiling close up of the author and her son, Elliott, courtesy of the author.

From 12 cases in the world and no information, we are up to nearly 400 and learning more. We have ongoing work with incredible doctors and researchers—that, along with a dedicated registry—we are gathering major insights and developing hypotheses. And, for the first time, families are coming together to work with scientists and clinicians to improve care and treatments for our children.

A number of disease-altering treatments are in varying phases of development, for the first time working to treat the underlying cause instead of using general anti-seizure meds to, most often unsuccessfully, go after the seizures (60–70% of our population does not have seizure control).

I’ve actually let myself, for the first time in many years, imagine that maybe I could get the opportunity to see my son develop, grow, possibly be able to communicate more fully and reveal more of who he is.

Even if I don’t though, I am extremely proud of him and so honored I get to be his mother.