Simon’s Story

I was born on September 1982 in Sydney, Australia to Filipino parents who immigrated to Australia in 1976. My birth was normal but my parents noticed that I was not progressing physically as quickly as other infants. After numerous visits, tests, and a muscle biopsy by doctors, I was diagnosed with Congenital Muscular Dystrophy when I was 2 years old. Despite this, I continued to progress physically as I started walking when I was 2 years old. The doctors could not recommend much for me beyond physical therapy and encouraged my parents to have me live as normal a life as possible, which is exactly what they did. I attended a regular elementary school and was enrolled in normal classes with the rest of the general student body. Despite the fact that it appeared obvious that I was not as physically capable as my classmates, I was never really teased for my disability at any point throughout my time at school; on the contrary, I was considered by many of classmates as an inspiration.

To provide a better opportunity for myself and my older brother, my family moved to the United States in 1990. I started seeing specialists in New York City and New Jersey soon after I had moved and eventually started seeing the doctors and specialists at the Children’s Hospital of Philadelphia. When I was about 10 years old, I started to have extreme difficulty walking and standing and within a period of a a few months, I ended up using a wheelchair on a daily basis. After a battery of tests and another muscle biopsy, it was concluded that my body had grown to the point where my muscles could not support my body weight to allow me to continue walking. Despite this setback and with the help of my family and friends, I continued on with my life as normally as I could. I continued to excel in school and becoming active in many school organizations such as the Auto Club and National Honors Society. Upon further research by doctors and geneticists at the University of Pennsylvania when I was 16 years old, it was found that the doctors in Sydney had misdiagnosed me and, through a gene therapy trial, it was concluded that there was a strong possibility that I might have Limb Girdle Muscular Dystrophy. Although they could not provide a firm diagnosis, it was more in line with my progression and symptoms that I had. It was then when I met Dr. Finkel and Dr. Bonnemann at CHOP that my diagnosis was again questioned again when I was 18, when I graduated high school and was about to enter my Freshman year at Villanova University.

I began attending Villanova in the Fall of 2001 and began to pursue my Bachelor’s Degree in Mechanical Engineering, where I lived on campus so that I could focus on my academics and also have the ‘normal’ college experience. It was also during my Freshman year that I got my first vehicle which contributed greatly to my independence. With my vehicle, I was able to pursue my interest in cars: I was quickly traveling all around Pennsylvania and New Jersey attending car shows while also using my education to tinker around with my own vehicle. When I was 21, Dr. Bonnemann had confirmed my diagnosis as Ullrich Congenital Muscular Dystrophy. While performing some tests to help with Dr Bonnemann’s research, I continued on with my education and eventually graduated from Villanova in 2005.

Soon after I graduated, I started an Engineering job at West Chester, PA and then got a job working at Motorola in Horsham, PA, where I currently work as an Engineer. Despite a major setback from a car accident in 2007, I tried to help out others that have Musular Dystrophy whenever I could by attending medical conferences and seminars. I still help out the doctors at CHOP whereever I can, and talk and give advice to some of the parents who have kids with UCMD. Regardless of any setback UCMD has placed on me, I still do what I can to try and live as normal a life as possible.

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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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