I’ve been thinking that we have a lot of specialists. More than most not as many as some but it includes a couple of geneticists. We’d met our first one with our son Gage, when he was 20 months old.
That was some appointment.
He walked into the room holding several books. Was it four? Six? I don’t remember, but I remember that they were thick. I do remember that it was a lot for the size of him. I’m not sure I remember how he greeted us or if he was engaging with Gage, who was sitting on my lap but I do remember how scared I felt about the appointment.
Scared he would tell us something awful about our baby. My Gage, who wasn’t walking, talking or doing anything remotely on time so the baby books stated while I read them during quiet nights.
We’d had Gage’s blood drawn days prior, based on the requirement of making the appointment. They were looking for anything mutant that might explain the ocular motor apraxia (OMA). Gage had already had an MRI and was in 7+ therapy appointments a week to address delays. We’d been referred to the geneticist by the neurologist who insisted 2 months earlier we run, not walk to the nearest therapy center, which we also did.
The Nutty Professor, as we referred to the doctor that day and ever since looked Gage over but good. He measured his limbs and trunk, tested him on a few toddler tricks, checked over his fingers and toes for the web lengths between them. He measured the length between his eyes and his ears and measured where his ears sat on his head. He pulled up, then down his lips to check over the gums. He asked us every question you can ask about interrelated marriage, disease in the family, any hunches you had about family members as far back as you can remember and your parents and grandparents ever talked about over the years.
And then it hit me. The Nutty Professor was only involved in our lives to tell us what was wrong with Gage. His job, his entire existence on that day, was to look for things that couldn’t be explained by the lay person, by the person just looking at our blond boy with the incredible smile.
He checked out the OMA for himself and said that he couldn’t be sure there wasn’t more issues to uncover as Gage aged. He wasn’t sure genetically where the mutant gene was – because it didn’t show up on the first pass – and they might not be able to if they dig deeper into the DNA.
We decided to stop. No more testing with that doctor. We didn’t know in the next few weeks I’d become pregnant with a girl whose body held another secret in addition to the OMA. Quinn’s birth and diagnosis would baffle the best scientists. Our kids would become those kids who had a syndrome not yet seen by a doctor and we would enter the world of studies and discoveries to be shared in medical journals.
The discoveries have delighted researchers but they haven’t mattered much to us since we learned that knowing wouldn’t change the course of what they had or treatment. One day, around 2 years later, I just let knowing what and why go and it didn’t matter anymore. That was a good day.
Julia Roberts, www.kidneysandeyes.com
Owner and Co-founder of SfSN