THE DYSFERLINOPATHY JOURNEY
THE DYSFERLINOPATHY JOURNEY
Click here to watch a video of Bliss talking about her experiences during the 2013 Jain Foundation Dysferlin Conference.
On February 26, 1981, I was born a healthy baby girl. I had what most would call a normal childhood. I was very active and played soccer and swam for my neighborhood swim team. However, about six months after my sixteenth birthday, I noticed I was having difficulty climbing stairs. I would have to put my hand on my thigh to give myself the extra support I needed. I just thought I was out of shape. It wasn’t until I took a step aerobics class at school that I noticed other things. Our class had to walk a timed mile and it took me longer than anyone in the class to finish. Out of concern, my instructor suggested I see an orthopedic specialist based on a tendency to lock my knees as I walked. Little did I know, this would be the beginning of a very long roller coaster of ups and downs.
In December 1997 at age 16, I saw an orthopedic specialist but as my knee x-rays were normal, he suggested I see a neurologist. The neurologist performed an EMG and referred me back to the orthopedist. At that point I received a biopsy of my right quad, which showed inflammatory myopathy. This finding led me to a rheumatologist, who sent the slides of my muscle biopsy to doctors on the east coast in an effort to gather opinions from several colleagues. The rheumatologist diagnosed me with Polymyositis in January of 1998. I moved ahead with the treatment for Polymyositis from 1998 until 2000, which entailed high doses of prednisone, as well as varying doses of methotrexate, imuran, plaquenil, and enbrel. This drug regimen resulted in steroid-induced myopathy. I was weakened to the point where I could no longer climb stairs, rise from chairs, and had to use a wheelchair for certain out of the house outings.
During the summer of 1998, I returned for a second biopsy and MRI. The biopsy revealed inflammatory muscle process such as Polymyositis. The MRI revealed inflammatory myopathy. After two years of trial and error, I decided to discontinue the use of all medications. In May 1999, after weaning myself off the medications, my strength actually improved. I was again able to rise from chairs, climb a few steps with the aid of a handrail, and no longer required the use of a wheelchair except for long journeys. The lull in medications did not last long. Upon another physician recommendation, I spent the summer of 1999 receiving monthly IVIg treatments. These would temporarily suppress my CPK levels, but we gave up on this course of treatment by September 1999. I began the new millennium with more doctor visits throughout the country and a repeat MRI. Finally in October 2000 at age 19, my journey lead us to Dr. Eric Hoffman at Children’s Hospital in Washington, DC. He reviewed my slides and muscle samples and was able to firmly diagnose Dysferlin Deficiency.
Since my proper diagnosis in 2000, none of the doctors I saw could really ever give me any solid path to follow. I was told that this was a very rare form of muscular dystrophy. Not one doctor was able to tell me if physical therapy would help me or harm me in the long run. There was no definite answer about how weak I would get or how quickly my physical abilities would deteriorate. It was comforting on one hand to finally know what was going on with my body but it was also very scary. It did not seem there was anyone out there that could give me any medical guidance. From 2000-2005, I was pretty much on my own. I was told by one of my doctors “I don’t know what to tell you. Right now you are the expert. You need to do what works best for you.” So I did. I continued with physical therapy and just tried to take care of myself.
In 2005, when the Jain Foundation was founded, I finally felt as though there was a small group of people that were going to help me find some much needed answers. Those first years I did not really know much about what they did. I was registered with the Jain Foundation and knew they would inform me of any late breaking news. It wasn’t until I attended the 3rd Annual Dysferlin Conference in 2009 that I realized how truly amazing the “small group” at the Jain Foundation really was! There were doctors, scientists and labs working with the Jain Foundation all across the globe. The Jain Foundation researches dysferlinopathy and works to find the best and most effective possible treatment options. The conference was a wonderful eye opening experience for me. What once was a scary diagnosis with an unknown future was turned around in just a few short days. For the first time in over a decade, I had hopes and dreams of living a life doing things I thought would never be possible again. The Jain Foundation gave me hope!
During these past 5 years the Jain Foundation has done countless things for me. My DNA has been examined on the molecular level. I know that my body does not produce the protein Dysferlin and I now know the exact two mutations in my DNA. This allows me to understand what future potential treatment options might be right for me. I have requested to be in touch with other female patients. With the Jain Foundation’s patient registry, other female patients were contacted on my behalf. The list goes on and on. I feel truly blessed to have been aligned with each individual at the Jain Foundation. By focusing on mutational analysis, the scientists and doctors aligned with the Jain Foundation will be able diagnose others with Dysferlinopathy much sooner than my diagnosis came to me. My journey to an accurate diagnosis has made me a stronger person, and it is my belief that the Jain Foundation will be able to bring hope to others who were like me… in a seemingly hopeless situation.