2016 Conference Highlight: Brad Williams, PhD “When Life Gives you Lemons…”

2016 Conference Highlight: Brad Williams, PhD “When Life Gives you Lemons…”

2016 Conference Highlight: Brad Williams, PhD “When Life Gives you Lemons…”

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Dr. Brad Williams, PhD, Director of Research and Advanced Diagnostics at the Jain Foundation, recently shared his own journey toward empowerment and advocacy with us during a session at our 2016 conference. We are happy to be able to share both his narrative from the session as well as his powerpoint presentation with you all. We hope you enjoy learning more about Brad as much as we have!

My name is Brad Williams; I’m a Director of Research and Advanced Diagnostics at the Jain Foundation, which supports research, diagnosis, and development of treatments for dysferlinopathy (Limb Girdle Muscular Dystrophy 2B/Miyoshi Myopathy). I’m also a dysferlinopathy patient. My presentation talks about my journey over the last 35 years towards advocacy and involvement in research.

“Lemonade Recipes: A Journey Toward Empowerment & Advocacy” Powerpoint PDF

It really wasn’t a course I’d ever thought my life would take, and not something I’d planned. The saying “when life gives you lemons, make lemonade” seems like an appropriate metaphor—certainly I wouldn’t have chosen to have MD, but it has led me in some interesting directions. One of my co-workers has a lemon tree in her office, which provides a good photo-op!

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I was very athletic and active in my early life. This sounds really strange for someone who has MD, but as I later discovered it’s quite common for this particular form of LGMD. I grew up in California, which has led to people from other places asking me if I surfed! No, I never surfed, but I did do a lot of winter sports, especially skiing and figure skating, which I did competitively for several years.

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I first noticed muscle weakness at the age of 18, just as I was about to start college. My first symptom was that I couldn’t stand on my toes, initially just on one foot. Then over the next several years the weakness gradually spread to other muscle groups.

My first term in college involved a lot of trips to doctors who were trying to figure out what was wrong with me. This was very stressful, and I ended up with a rather cynical view of medicine. It was unclear for many years and to many neurologists what I had. Was it an auto immune disease, or a type of muscular dystrophy. But if it was a kind of muscular dystrophy, it wasn’t any kind that the neurologists recognized. Eventually I was diagnosed as having a “distal myopathy” which just meant I had weakness in my lower legs. Great…translate the symptoms into another language and call it a diagnosis!

After college I went to grad school. Many years later, I learned something very interesting. Through a Facebook group for muscular dystrophy patients, I met another patient who also had LGMD (a different genetic type), who had gone to grad school at the same university I did, was there at the same time, and worked in a building about 200 yards away from where I worked! But we never met each other until many years later. I learned a lot of things while in grad school, but this is an example of something I didn’t learn then, but should have:

the importance of connecting with others, especially for patients who have a rare disease.

I was able to get a clinical diagnosis of Miyoshi Myopathy when I was in grad school, by a really good neurologist who had the foresight to take a muscle biopsy and keep it frozen for later. At the time, the gene for Miyoshi wasn’t known yet. There was a hunt for the gene which started in about 1993, for which I gave a blood sample. By that time I had moved to Washington DC, and started a job. I didn’t hear any more about it for several years until suddenly, in 1998, the discovery of the dysferlin gene was announced!

A couple years after that, a way was developed to test for dysferlin protein in a muscle biopsy. The biopsy my neurologist had taken several years before was still frozen, and I arranged to get it tested for dysferlin, which sure, enough, was greatly reduced from the normal amount.

I had a diagnosis! Then I got curious. I hadn’t heard anything about research on dysferlin or the diseases caused by not having it until the gene discovery was announced. What else was going on that I didn’t know about? It turns out, quite a lot. There were several research groups around the world working on these diseases, but I never knew. I got inspired to spread the word to other patients. I started a website summarizing what was known about the disease, what research was going on, and what scientific papers had been published on it.

Through that website I met several other patients with whom I’ve kept in contact for many years. I also met the Jain family, who later started the Jain Foundation, after their son was diagnosed with dysferlinopathy. Fast forward to a few years later, and I was working part time for the Jain Foundation, and found myself at the first ever research conference on dysferlin! I almost couldn’t believe that after so many years of feeling alone in dealing with this disease, there were over 100 people talking about it at a conference.

I kept working part time on dysferlinopathy while spending the rest of my time at my job in DC until 2015, when I decided to make a change and move to Seattle to work full time on dysferlin research. This was never the career path I had foreseen when I was in school, nor did I think that having a genetic disease would actually lead me to a job opportunity. What I’ve learned over the years is 1) it’s good to offer help when you can give it and ask for it when you need it; 2) telling the world about who you are and what you are dealing with is important even if it’s sometimes scary; and 3) connecting with others (fellow patients, organizations, researchers, people involved in advocacy) makes a huge difference.

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