“Infantile spasms (IS) is an age-specific seizure type that occurs in 1 out of 2,000 children from many different causes. Tuberous sclerosis complex (also called TSC) is a common cause of infantile spasms, with IS affecting about one third of children with TSC.  The infantile spasms are most often seen in children between four and six months of age, although these seizures can begin anytime in the first two years. Rarely they are seen in older children up to age 10; at this age, the seizures are called juvenile spasms.

Infantile spasms are often mistaken for other conditions. Yet, prompt diagnosis and appropriate treatment of infantile spasms are critical, because children may stop developing normally or even lose skills soon after the spasms begin. Significant intellectual disabilities may also be seen if the seizures are left untreated. Swift and effective treatment may provide the best developmental outcomes possible for a child with infantile spasms and for children who also have TSC. “

Watching and waiting. Day by day.  Watching their eyes and wondering if it was going to start happening, wondering when it might happen, a mother’s intuition on steroids, call it.  It’s existing on a different plane of reality for some time, one where all that matters is making sure  you catch the subtle eye movements, the mild body movements and are prepared to immediately call the neurologist.

The first time we noticed it, we had no idea what was going on, only that something wasn’t quite right.  Her eyes were pools of water and they kept kind of rolling upwards in her head.  Her arms and legs would kind of lose muscle tension and collapse a little, as if she we’re bowing to her knees.  All I can say is it was weird and a bit terrifying.  We were ready to film these spells, and had an appointment with the neurologist when a regular old seizure landed her in the ER and the TSC diagnosis was made. It took awhile before we discovered what these other odd eye and body movements were and it was clear from the look on the neurologists face, after an EEG, that the news wasn’t good. As in very bad. Prognosis for future?  Cloudy with a likelihood of big trouble.

I was then working at pharmaceutical research as office manager.  The company I worked for hired research associates, who where generally young college kids, to do some of the heavy lifting of the sort of research needed for their studies. So when it was learned of the struggles we were having with our infant daughter, those research associates went to work tracking down information on this particular type of seizure and any available treatments. Turns out, one of the research associates was from Turkey and her father owned the company that manufactured Sabril, also known as vigabatrin, generically.  This, at the time, was about only possible treatment that had any long term potential to stop these life limiting seizures.  Shortly thereafter, I came into the office to find multiple boxes of Sabril, on my desk.  For free. God’s hand, fate?  Well grace anyway…. this was 1996.  The FDA had not approved use of Sabril (vigabatrin) in the United States. A side effect of narrowing of the retinal field of vision had kept it restricted.

Our neurologist at the time, when informed of our acquisition of the Sabril, did a happy dance around the office.  No lie.  He was so excited.  He knew about vigabatrin but as it was not FDA approved and he had no clue how to get it, he hadn’t mentioned.  He was more than willing to advise me on how to administer.   Within a week of starting the medication, Mary Ellen’s Infantile Spasms stopped and never returned!  Miraculous!  I am reflecting on this particular series of fortuitous events more than ever lately as I stand at a place of frustration with the multiple meds my kids have to take now for aspects of their TSC.  So remembering helps.  And remembering holds the hand of being overwhelmed with the infusion of grace that touched our lives and paved the way for the quality of life all three with TSC have now.

I was able to identify the start of IS in my other two children with TSC, probably within hours of the visible signs starting.  I had been perched waiting, watching, with eagle eyes since their birth.  Knowing of this potentially loaded gun of Infantile Spasms, was probably around any corner… and I was ready, phone in hand, to call the neurologist.  It happened with both Sara and Jack and by now, we were able to get the medication from Canada and twice again, the Infantile Spasms were stopped.  Ahhhh, the miracles of modern medicine.

Now here were are in 2016 and the FDA approved the use of Vigabatrin for the treatment of IS  in 2009, in no small part, due to tireless advocacy in good part from the TSC community.  It’s hope in a big old bucket and over an over I am grateful to have been on the receiving end of such a fortuitous miracle!