- CASE FILE
I have been misdiagnosed 6 different times with forms of Muscular Dystrophy since the age of 2...I am now 30 years old with no diagnosis.
ABOUT THIS CASE FILE
I was 2 years old when my mom noticed that something was off...I didn't run like other kids, couldn't jump, couldn't stand on my tip-toes, and swayed my hips as I walked. The doctors told her I was going through a phase. At age 3, she saw a different doctor who knew right away there was something wrong. They performed a muscle/nerve biopsy and a spinal tap and diagnosed me with Spinal Muscular Atrophy. As I was getting older, I became weaker and weaker. I started using a walker in 3rd grade and became fully wheelchair bound in 5th grade. At age 13, I got a new neurologist and she didn't think I had SMA due to my symptoms. She took another look at my biopsy results and took away the original diagnosis but replaced it with one of Charcot Marie Tooth. At age 18, this neurologist returned from a conference in which she thought she had figured out my true disease. I had to do a new muscle/nerve biopsy and it was 'confirmed' that I had Ullrich Congenital Muscular Dystrophy. Around age 20, I attended a seminar where the founder of Ullrich was presenting. I met with him and the first thing he says to me is "You've been diagnosed with this? There's no possible way." I then showed him all of my records and my most recent biopsy...he immediately told my neurologist that I do not have this disease. He was confused by my symptoms but wanted to do more testing. Prior to the testing, my doctor labeled me with a basic Congenital Muscular Dystrophy diagnosis. The two doctors worked together to try and determine what tests to do and came to the agreement that I may have Distal Spinal Muscular Atrophy due to the weakness/contractures in my hands and feet. They ran an EMG to test the nerves and muscles in my hands and feet. The results came back inconclusive. I was then told they are going to stay with the basic Congenital MD diagnosis while they did more research/testing. At age 25 was the last time I met with my neurologist where she told me they will be taking away that diagnosis and will not be giving me a new one. I was told they had done all of the research and testing that could be done and I didn't match the symptoms of any disease. I am now 30 years old with no diagnosis...I am a medical anomaly.