Patient Stories: Becky

In July of 2011 it will be two years since I received my official diagnosis of LGMD2B. What I remember most about the early stages of MD was knowing something was wrong but not knowing where to start. Realizing it was hard to get up from a chair, the ground, walking up steps and falling were the start of my symptoms. I thought I had just gotten lazy and needed to work out, but no amount of working out made it better - but actually worse!! I began with my family doctor, who referred me to a neurologist. Many tests were performed including blood tests to measure CPK, an ECG, EMG, muscle biopsy, and a genetic test specifically testing for muscular dystrophy.

Once we received the results back indicating LGMD2B my neurologist referred me to the Muscular Dstrophy Association where I saw a doctor who specializes in Muscular Dystrophy. This appointment proved to be very helpful; however, I knew I had a lot to learn after the diagnosis so I started doing research on the internet. I came across the Jain Foundation and registered as a patient. I was contacted by Esther Hwang and it was then that I began to learn more about my diagnosis. Esther put me in touch with Dr. Laura Rufibach at the Jain Foundation who was able to go over my results in detail, using words that I was able to understand. This was most helpful because I was able to explain to my family the diagnosis as well. In a strange way, getting diagnosed was the easy part of this whole process; it was understanding what I was going through and explaining it to my family and friends that was the most difficult, but with the help of the Jain Foundation and their willingness to take the time to explain what was going on, I was able to answer the questions that my family and friends were asking.

With the help of the Jain Foundation I registered and participated in a study at the Children's National Medical Center in Washington DC. Feeling helpless with this disease, it felt great to participate in something that could potentially help myself and others affected by this disease. It was great to be able to share my experience in the study with my local MDA office as well. I have come in contact with so many people during this whole process and have learned a lot throughout the process and I honestly don't feel I would be as "comfortable" in my knowledge of my diagnosis as I am right now without the help of the MDA and specifically the Jain Foundation. It is great to know that they specialize in my specific type of MD, and that they are so willing to help myself and others affected by LGMD2B.

 

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