Road to Diagnosis, Part 2

     Mary was a good baby, but too good. At eight months, she was still happy to sit in my arms all day, and was not interested in toys. She had just begun sitting up, but was not reaching for things. At an age where most babies begin to get into mischief, I could set Mary down, leave the room, and come back to find her in the exact same place.

     Oh, how I long for those days!

      So first came the initial evaluation. A team of therapists came to the house and observed Mary. They hesitantly told me about what her delays were (pretty much everything), and were relieved when I told them that I had an appointment with a developmental pediatrician already. In our area, there is usually a six month wait, but I had a connection (thanks sis!) and was scheduled within two weeks.

     At the developmental peds clinic, I answered a lot of questions, and again Mary was observed. Her facial features made me wonder if she had mosaic Down's syndrome, while the doctors suspected Prader-Willi syndrome, due to her insatiable appetite and chubby physique. Although Mary rarely cried from hunger, she also wouldn't stop eating once she started. Either way, a visit to the geneticist was in order, and was scheduled soon after.

     Meanwhile, we had begun therapy. Mary had physical therapy twice a week for 60 minutes, and a special education teacher once a week for the same amount of time. Here I must give props to New York's Early Intervention system. They give you exactly what is needed, when it is needed, without hesitation and regardless of cost. I thank God every day I live here, despite the huge taxes that I used to complain about. After Early Intervention ends, at age 3, it's a completely different story, but more on that another time.

     So in August, about two weeks before Mary's first birthday, I got the call. The woman on the phone warned me, "I don't want you to run to the computer and read everything you can find, or you'll make yourself crazy, but I know I can't stop you. Here's her diagnosis." And so she told me it was Smith-Magenis Syndrome. I wrote it down, and somehow went back to Mary's therapy session in the next room. I managed to wait until it was over, and she was in bed, before I looked. I restricted myself to one site, and learned all that I could.

     The really fun part of all of this was that Gary, my husband, was out of town at the time. I couldn't tell him on the phone, so for the first time in my life, I managed to keep my mouth shut. For two days, I didn't breathe a word. Hardest thing I've ever done, and I include the involuntary natural childbirth of my son, after 40 hours of back labor!

     By the time her first birthday came, everyone knew. I gave everyone in the family the website to look at, and got my first "but she's so pretty!"