In my last post about autism I shared how my daughter never experienced any regression, that she was delayed almost from birth. By the time she was one year old she was already receiving physical and occupational therapy. But that wasn’t the end of her story, or the end of our fears. A lot also happened between her twelfth month and when she turned three, when she went off to a full-day, five-day-a-week special needs preschool. This covers the time between her 18th month and just past her second birthday.
At our daughter’s 18 month check-up her pediatrician suggested that in addition to the physical and occupational therapy she was receiving through our state’s Early Intervention program, we should consult a pediatric neurologist to make sure there wasn’t some underlying serious problem that was causing the delays. So we got a referral and took her to see a neurologist. In his examination he confirmed the significant delays and sent us off for a blood test. The blood test was a nightmare. It took two of us to hold her down while she screamed and kicked and tried to flail her arms.
When he called us back to review the results he was disturbed. There was a significant abnormality in her lactate level. Her hypotonia (low muscle tone) AND the abnormal lactate level indicated that she might have a mitochondrial disorder. Basically what it boiled down to was the possibility of her having some kind of muscular dystrophy, something that could be permanently disabling or even degenerative, leading to a shortened lifespan. Muscular dystrophy? Was the doctor saying there was a real possibility my daughter might end up in a wheelchair, or on a respirator and dying an early death? Oh God. Thankfully we lived close to a hospital that was world renowned in the study of mitochondrial disorders. So our neurologist gave us a referral to that hospital, and off we went to consult with a new neurologist who would be able to treat us there.
There was only ONE way to conclusively rule out a mitochondrial disorder, and that was to test some of her muscle – a muscle biopsy. So in order for us to rule out this terrible thing we had to subject her to surgery. And while they had her asleep they would also do an arterial blood draw, which would give them another, even better read of her lactate levels. As our new neurologist explained it, the surgery wasn’t that complicated. They would put her “under,” make about a one inch incision and take a small amount of muscle out of her upper thigh. It would leave a scar, but a small one.
NOT THAT COMPLICATED. I understood it wasn’t heart or brain surgery, but there was nothing “not that complicated” about me having to hand over my baby to people who would put her to sleep and cut her open. It was one of the hardest things I’ve ever done. They gave her a little something to make her groggy, then I carried her down to the operating room. I placed her on the stretcher, kissed her goodbye, and somehow made my feet move to leave her behind. I cried all the way back to the waiting room. The time spent in that waiting room was one of the hardest “waits” I’ve ever known – except for the four weeks we’d have to wait to get the results of the biopsy. That’s right, FOUR WEEKS to find out if our daughter was healthy with some problems, or sick and possibly going to live a short and difficult life.
The only way we survived those awful weeks of waiting for the results was through the support of our family and church. The Christmas holiday was also in the middle of this waiting, so my husband had plenty to do with his church work, and I (not working outside the home at this point) had plenty to do to get ready to celebrate and get presents for my girls (remember I also had a four year old daughter). The busy-ness kept us distracted, but it was still nearly unbearable.
When the test results came back the neurologist was relieved to tell us that the biopsy RULED OUT a mitochondrial disorder, and the lactate level they got from the arterial blood draw was NORMAL. She explained the high level from the other blood test could have been a result of her being highly agitated, or from the lab not handling the sample properly. We all breathed tremendous sigh of relief.
But this was not the end of our fears, because between the time of her biopsy and us getting the results our daughter had started exhibiting a new confusing behavior. We explained to the doctor that she had begun closing her eyes for extended periods of time when we knew she was awake, would sometimes shake her head rapidly, sometimes roll her eyes so that all we could see were the “whites” and sometimes zone out and stare into space. In the middle of the doctor telling us to “just keep our attention on it” she did the eye-roll thing right in front of all of us, and the neurologist’s immediate response was, “That is NOT normal.”
Our next test? A 48 hour EEG to rule out seizures. And we were off on our next episode of fear…