We started getting worried when the Pt he was seeing mentioned getting foot braces to stretch his heal cords. I came home from that appt and went online and started some research about the braces. The only children that seemed to have them had some serious neurological problems, like cerebral palsy and muscular dystrophy. The more I (katie) researched the more sickened I became, he had nearly every sign and symptom of muscular dystrophy. The life expectancy was less than 20 years old, complete loss of muscle control. I was terrified.
Two days later, we brought Oliver for his 2 year appointment with his pediatrician. The nurse comes in and does his weight and length, and always asks "Is there anything specific you'd like to talk to the Dr about?" and we told her about how he'd being doing PT and his walking wasn't getting any better and how we were starting to get worried. We said we'd like her to refer us to a neurologist to check him out, just in case.
His Dr. came in and watched him try to stand up from playing on the floor, it was very difficult for him. She watched him try to walk to us from across the room, also very difficult for him. I asked her if we were rightfully worried about something serious like MD. She looked at us with complete seriousness and said "Yes. I am quite worried." I almost passed out. She left the room to make a phone call right away to Children's Medical in Hartford to get him in to see the neurologist as soon as we possibly could, it could sometimes take 3-4 weeks to get an appointment. It was Tuesday and she somehow got us in to see him on that Thursday. In the meantime she sent us directly to the hospital to get his blood drawn to test his TK level. This would measure the amount of muscle breakdown and was the #1 indicator of MD.