Parents have a sixth sense about their children. Call it a hunch, a gut feeling or a intuition, but it is real. I think as parents we feel like we have a responsibility to society to be logical and methodical. We don’t like making assumptions based on a mere feeling, but instead want evidence to show proof and validation because that’s what we’ve been taught. It is terrifying to come to the realization that there might be something wrong with your child, but it’s even worse not being able to prove it.
It’s that gut feeling that pushed me to keep searching for a diagnosis for my then 2-year-old son, Reid. For me, and for so many others out there like me, the road to a diagnosis can be a long one. It is tiring and it’s easy to run out of gas. I found myself searching for something I knew was there, but without direction I was forced to pave my own way.
I took wrongs turns, but I stayed the course because I couldn’t give up. On my quest to uncover Reid’s diagnosis, I heard it all. We were told our son was delayed, to put him in therapy and that he might grow out of “this”. We heard words like cerebral palsy, autism and failure to thrive. It was that feeling inside that urged me forward. If Reid was all of those things, then I wanted to know why.
After visits with over 20 specialists and years of dead ends, we felt like we had exhausted our resources in Austin. I was determined to find a specialist who was progressive and who wouldn’t just stick a label on Reid and wish him well. I wanted someone who would see Reid as a whole and not just treat his symptoms.
So, one night I packed Reid in the car and we drove to Houston hoping that Texas Children’s Hospitalwould have the answers. On that drive along Interstate-10 from Austin to Houston I wondered if I’d ever find a team who would champion for my child. Three days later, on my drive home to Austin, I was confident that Dr. Michelle Holick and the team at Texas Children’s Hospital were the champions I had been searching for.
Dr. Holick diagnosed Reid with X-linked (SLC-6A8) Creatine Transporter Deficiency. While I listened to her tell me how our lives would never be the same, I felt relief that the road to a diagnosis had finally come to an end.