Isabelle Medical News
Despite the diagnosis of Down Syndrome, Isabelle was doing exceptionally well when it came to social development in her first six months. She was an alert, smiling, happy baby. Then five months ago things started to change. Subtlety at first; she became more lethargic, smiled less, and wouldn’t make eye contact as much. Then there were the flinches. From time to time her whole body would bend as if she were doing sit-ups, although very violently and involuntarily.
As time went on her social development not only slowed down, but actually began to go backward. She went from holding and shaking a rattle to having no interest whatsoever in anything or anybody around her. We were told at first the flinches were just her learning how her body works and she was probably trying to poop. As we pressed with the other issues we had noticed we were told that the flinches were just a “startle reflex” and that the slowed development was because of the Down Syndrome. But that didn’t set right with us.
One thing I’ve learned from my years doing the St. Jude Radiothon on the radio is that every single parent echoes the same thing, “we went to (insert startling number here) different doctors before somebody realized we weren’t crazy and that something was really wrong with our child.” I shared my concern with a friend who has a daughter with special needs and he recommended the doctor who cares for his daughter. We decided to see him as another opinion.
It was Dr. Roy who suggested that Isabelle’s increasingly intense flinches (some so strong and sudden that she would throw herself from a sitting position flat and painfully on her little face) might be a sort of seizure. He ordered an EEG and then a referral to a neurologist. We took Isabelle in for her EEG earlier this week and set up an appointment with the neurologist for next week. Yesterday though, we got a call from the nurse telling us “we have an opening now and really want the doctor to see Isabelle tomorrow.”
Our stomachs sank with fear.
Our fingers googled furiously trying to guess at what we might hear. Autism, leukemia, you name it, we attempted to prepare for the news. And we prayed hard that we would at least get an answer as to why our daughter had no interest in the world around her and was experiencing such intense seizures that she was injuring herself. Today we visited the neurologist and after examining the EEG and the videos we had taken of Isabelle “flinching” he told us with over 90 percent certainty that Isabelle is having infantile spasms. Though more common in kids with Down Syndrome than “typical” babies, they are still very rare. His pediatric neurology practice is the only one in the state of Idaho, so if your child has neurology concerns no matter where you are in the state, you come to see him. And with that, he only sees about 4 cases of infantile spasms a year.
You can look on the internet about infantile spasms if you want to learn more, but trust me, what you find isn’t terribly encouraging. Because of its rareness, it has garnered very little study. Plus there is the thought that they go underdiagnosed or misdiagnosed as was becoming the case with Isabelle. The short answer to what they are, is they are a kind of epilepsy when left untreated can lead to permanent brain damage. The only course of action at this time is medication. The medication Isabelle started on tonight seems to be successful in 1 out of 4 children diagnosed with infantile spasms. (And this is where you come in… we really need prayers that she is indeed that 1…)
If after two weeks the medication has not stopped the seizures (at which time Isabelle’s development should return slowly to normal) she would go on a different drug cocktail, one that includes a steroid with a series of side effects. We hope we don’t get to that place. But if after an additional two weeks on that new medication we don’t see the seizures stop, then we would go on what the doctor described as a “a drug with a steroid on steroids.” That would be the last course of action and it carries with it some very, very intense side effects. Like I said, we’re hoping the course of treatment we’re on now is successful and we don’t have to move onto step two (let alone step three).
I am encouraged now that we have an idea of what is wrong with Isabelle. And I’m praying that the drugs she’s taking now return the smiling little baby who loved to look us in the eye that we had in our arms five months ago. So if you’re still reading this, I ask two things of you. First of all, for prayers that this drug works. And secondly, promise me that if your gut tells you that something is wrong with a child in your life, push and push and push until you get an answer. A parent’s gut us a gift from God. So use it.
R
