Just this weekend I loomed large over my petite baby daughter, holding her close, playing with her hand. Tears rolled down my cheeks, not in a torrent, but rather a slow emotional drizzle which besets me from time to time. “I can love you, I can hold you, I can play with you, but little girl, I can’t fix you.”
Marissa is my daughter. She was born by caesarian section on November 8 of 2007, a day after my Wife’s 37th birthday. She’s our first. She greeted us with a bit of unnecessary medical personnel drama, as the pediatrician saw me cooing at my daughter, caught a glimpse of her epicanthic folds and suggested we needed to have a Down’s screening. Dad being white and not asian, there shouldn’t have been any reason for the folds, so she deemed caution was in order and ordered a fairly comprehensive genetic screen. She hadn’t met the mother yet at that point which would have been a tip-off. Mom is of Filipino descent.
We all had a good laugh about it, after the wife had healed completely. Laughter was completely out of the question for a few days following our release from the hospital with the stamp of approval. Good apgar scores, excellent appetite, digestive system functioning normally, all conditions go for hospital release. The journey home was uneventful, all the normal new parent issues came in time. Baths were had, sleep wasn’t. Diapers were changed, and so were routines. Thanksgiving arrived, and we had enough of a new normalcy established for me to make my brined Turkey Alton Brown Good Eats style. Christmas came and went, with no family or pre-party disasters. The cats loved the baby, the in-laws dog did too. We didn’t make it to midnight on New Year’s, but we did catch it at 2AM for a feeding.
A new clock started on Valentine’s day. I was sitting and rocking the baby for her noontime nap, watching Prince on Muppets Tonight. Marissa made an odd motion, crunching her chin to her chest, bringing her arms forward so her fists were under her chin, and her legs up. It all lasted only about a second, and she relaxed and was perfectly fine afterwards. Puzzled, I watched her instead of the musical number on the screen for a minute. She seemed peaceful enough, so I chalked it up to “baby things.”
Then she did it again. And again. Then ten more times.
I called everybody I knew. The wife at work, the sister-in-law at work, the parents-in-law, anybody close who could come and see what she was doing. Nobody answered. The wife finally called back, and she called the pediatrician. Baby seizures went through my head, so I quickly googled it. Nothing I found in the 45 seconds or so matched. Our pediatrician called back and ordered us to the local emergency room. Less than an hour from the first event, we were at the Fairfax Inova emergency room waiting area.
The adage of emergency rooms states that the longer you sit in the waiting room, the less urgent your problem is. With hope, I girded for a long stay. We waited less than 5 minutes in the patient waiting area. I’m not going to bore you with the details of 10 hours before our intake into the pediatric ward. It’s all a blur of 10 pokes for blood draws, failed IV cannulus insertions, bad daytime television, and wondering why they had people stacked up in the hallway on gurney beds. Through all of it, Marissa was happy and energetic. Pleased to see Mommy home so early, not thrilled about the car seat, but she still isn’t happy about that even today. We hit the ward at about 11:00 for observation, but to all accounts she was a happy smiling baby. At about 11:30 PM that night, with medical staff on hand, she had her second event, same physical manifestation of the first, but longer and more drawn out. I couldn’t even see her through the ocean of hospital technicians and doctors that had materialized seemingly out of thin air.
Just based on the near-midnight event, Marissa was tentatively diagnosed with Infantile Spasms. Electro-encephalograms, with and without video. Fasting Magnetic resonance imaging. Hospital food for the parents. Sleeping on bad chairs and the floor. Many doctors. Many more medical students. An epic amount of nursing staff. Three days later, the diagnosis was changed to cryptogenic infantile spasms, and even this isn’t a firm diagnosis even now.
We’d been home for 30 minute intervals over the six day hospital stint. We’d hit the internet quickly, found “infantile spasms” on Google and on YouTube and let the horror soak in before returning to the hospital. Even with such a benign sounding name, Infantile Spasms is going to color Marissa for at least the next two years, and most likely for the rest of her life. By definition, infantile spasms is a transitory diagnosis, as it resolves itself or resolves into something worse at about 2 years of age, but it hangs over us in everything we do, like a metaphorical Sword of Damocles.
Summing up a complex disease in a quick paragraph here, infantile spasms is a seizure disorder affecting children less than 2 years of age. Most patients are affected at about 3 months of age. The term “infantile spasms” can be used as a symptom of a larger problem, or as the entire disease. The cause for the infantile spasms can be known, in which case it’s referred to as symptomatic, or as cryptogenic if no underlying cause can be identified. Marissa’s is cryptogenic. Her MRI is normal, and the initial genetic screening is as well.
Marissa’s tale continues to be told. She’s got another upcoming genetic screen which will involve just about everybody that we’re directly related to. A spectrometric MRI will be performed shortly after the follow-up genetic screen. We’ve been through many medications and doses, with varying levels of seizure control, including a $100,000 steroid known as ACTHar Gel that failed.
I was invited to contribute to specialneeds.5minutesformom.com by Tammy. The details of how she found me aren’t quite clear to me, but she stumbled across Marissa’s website somehow. I started marissasbunny.com out of personal frustration that nobody quite seemed to know what the disease was, or even the severity of it. I’ve had an amazing influx of concern from people I don’t even know, and a stunning level of well-wishes from many different corners of the internet.
I’m thrilled to be joining the team here. I can’t guarantee anything other than a Father’s personal frustration at a rare disease, railing against various healthcare institutions, or anything more than observations on life of an epileptic child, but if I can make one other Mom or Dad’s life brighter or easier knowing that they’re not isolated, then I’ll consider it a victory.