Jennifer’s story

jenniferI was born in 1977 as the second of three daughters to great parents who raised us in New York. From infancy and childhood on, I had many of the classic Ullrich CMD characteristics such as floppiness, dislocated hips, and the somewhat-strange combination of distal joint laxity with proximal contractures. I was a happy baby though and had loving, knowledge-seeking parents who worked hard at trying to find a diagnosis for my symptoms. In the early 1980s, we made the circuit among some of New York’s top neurologists who on the basis of my clinical history and muscle biopsies diagnosed me with slowly progressive myopathy of unknown cause. We were advised that my condition would probably stabilize and that the only treatment was physical and occupational therapy.

In fact, my physical condition did stabilize for several years, and I was able to walk until about age 9. I started using a wheelchair part-time and once I needed one full-time, I made the very welcome transition to a scooter which gave me lots of independence. Later on, I switched to a power chair, and my scoliosis and respiratory function slowly deteriorated over my teenage years. At the same time, however, I was spending these years with my sisters and a couple of friends and life went on. I learned to love swimming and the independence I felt in the water. I always liked learning anything and everything and was a bit of a geek at school and at home.

In 1995, during my senior year in high school, my respiratory condition worsened significantly from retention of CO2. Eventually I entered the hospital, underwent a tracheotomy and became ventilator-dependent at that time. Since then, I have used my ventilator all day and night although I am able to come off it for up to approximately 2-3 hours at a time as needed. This was a big transition for me, but what helped was how great I felt being well-ventilated. After feeling the effects of elevated CO2 for some time, I was practically exhilarated to feel like a fully healthy person again! I have also been lucky in the sense that since 1995, I have never had to enter the hospital again or deal with serious respiratory infections. Full-time nursing coverage at home has helped to keep me healthy over the years.

After my little hospital stint, I went on to graduate high school as valedictorian and then entered college locally where I graduated summa cum laude with a Bachelors in English. In the summer of 1998, I attended the International Summer School at the University of Cambridge and also did some sightseeing while in England. After doing my Masters in English at State University of New York at Stony Brook, I then flew the nest just a little more to commute into the city for the PhD program in English at New York University. I now work as a tax examiner, in a field completely unrelated to my education, but enjoy good job benefits and a supportive work environment.

In my spare time, I enjoy reading, cooking, traveling, and attending religious functions. I especially love my family and spending time with them, including my extended family plus my parents, sisters, their children, and my husband whom I married in 2003.

In 2008, I attended the Annual Ullrich/Bethlem Conference at Children’s Hospital of Philadelphia. A diagnosis of Ullrich CMD was made at that time clinically by Dr. Bonnemann and confirmed subsequently by laboratory testing. It was fantastic to have a name to put to my condition which has been part of my lifelong experience.

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  • Congenital Muscular Dystrophy

    A group of diseases causing muscle weakness at birth. Several defined genetic mutations cause muscles to break down faster than they can repair or grow. A child with CMD may have various neurological or physical impairments. Some children never gain the ability to walk, while others lose the ability as they grow older. Learn more...

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