March, 2008
Today is my birthday (if you couldn’t already guess from the title of this blog)! Unfortunately, birthdays in my family meant we took a trip to the doctor’s office together. Even thought its supposed to be just the one person who gets the yearly check-up, my parents just love to get an extra check-up here and there. When we arrived, the doctor smiled and said, “So you’re the birthday girl!” She greeted my parents and shook my brother’s hand. A strange look appeared on her face, and she asked my parents if she could talk to them in private.
Then she took my brother into a room, which made me a little upset. Why should he get all the attention on my birthday? About 10 minutes later, we all went into a room and the doctor started explaining to us about a disease called Myotonic dystrophy. I felt so smart because I knew what she was talking about! She then informed us that she fears my brother Phil has it. This made my happy birthday mood quickly change to a worried one. She continued and said she can usually tell just by a handshake because affected people take longer to loosen their grip. Just to be sure, they would perform electromyography on both of my parents. This meant that the doctor would place a tiny needle in the muscle and listen for myotonia, which sounds like a plane crashing. Then for Phil and me, the doctor took blood so she could examine the DNA and determine whether he had it and if I was possibly affected, too. She said that these were the current diagnostic procedures that replaced the need of a muscle biopsy, much to our relief. She told us that the disease affects one in eight thousand people, and it is common. The test results would come in about a month, and in the mean time we should go to her for any questions or concerns.
Before I left, the doctor attempted to reach out to me by handing me a book titled: “Everything you need to know about Myotonic dystrophy.” This wasn’t the present I was expecting today…
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