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Playing the Waiting Game While Living with a Rare Disease - SPM Blog
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In 2004, at age 17, I was diagnosed with an adult-onset muscle disease called limb-girdle muscular dystrophy type 2B (LGMD2B). My diagnostic journey began 10 months prior, the result of a routine blood test after a car accident which yielded concerning biomarker levels. I had no physical symptoms and felt like I was in perfect health, so to hear I had an underlying disease was baffling. Although I was relieved to finally have a diagnosis, my mind turned to what came next.

“Is there anything I can take for this disease?” I asked my neurologist.


“Are there any clinical trials?”

“Unfortunately, no.”

She probably said more than that, but all I could remember was “no.” Even though I was asymptomatic, I was concerned to hear that there was nothing that could help me once the weakness began, which I was told could start the following year, or decades later. With such a rare disease, they didn’t know for sure.

It turned out to be four years later, shortly after I graduated from college, when I pulled up tired one night while going for a run. Today, at age 35, I use a wheelchair full-time. This disease trajectory, it turns out, is in line with what is to be expected for someone with LGMD2B. Consistent and unrelenting.

It has been hard to experience this disease knowing that there aren’t any effective therapies available to stop or even slow down the weakness. Yet for those living with a rare disease, lack of therapeutic access is common. According to the National Organization for Rare Disorders (NORD), 95% of rare diseases do not have an FDA-approved treatment.

When a cure or effective treatment seems so far away, it is easy to think there is nothing you can do today to make a difference in the long-term. But that is not the case. There are many steps you can take to increase the odds of there being a clinical trial for your disease in the not-too-distant future.

It took me a while – more than three years after symptom onset – to realize I was more in control of my situation than I thought. I am usually someone who likes to act, who enjoys solving problems. But I was so caught up on the fact that there were no treatments that I failed to see what actions I could take.  Once I realized that there was much that I could do, I felt more in control, and the positive benefits have accumulated.

So what can you do now to better prepare you and your disease community for a clinical trial? It turns out, many things. Here are my top five tips (with the full knowledge that this is the tip of the iceberg – if you have any additional tips, feel free to add in the comments section):

  1.     Take it one day at a time. Upon diagnosis, a disease journey can feel overwhelming if you view it in totality. I heard I was going to be unable to walk someday and it hit me like a ton of bricks. Once I broke the journey down into more manageable steps, focusing on my actions, it became an easier foe to face. Actions can include diet modification, exercise (if beneficial to your disease), being mindful of your mental health, and connecting with relevant disease organizations, for starters.
  2.     See if there is a natural history or observational study. I enrolled in the Jain Foundation’s natural history study in 2012, and it tracked me for four years, providing data on my disease progression and biomarkers that are essential if companies are going to become interested in drug development. For rare diseases, natural history studies offer valuable data that companies running clinical trials one day will need in order to design trials and monitor therapy effectiveness. In addition, it provides useful data that will help move science forward.
  3.     Connect with other patients. I am introverted, so this did not come naturally to me. In fact, when first diagnosed, I internalized my disease, not wanting to confront my future. The sooner you can connect with a patient community, whether it be on Facebook or Internet forums or through nonprofit organizations, the easier it will be to take charge of your disease journey. Each connection strengthens the patient community and is mutually-beneficial. The more patients who stay engaged, the better the chances for filling a clinical trial down the road.
  4.     Share your story. This is a continuation of the third point, but writing or speaking to others about your condition helps others, and educates those who may not be aware of your disease. It is cathartic. But it also has practical implications. You’d be surprised how many times I’ve seen someone connected to a disease community because they heard someone else’s story, realized they had similar symptoms, reached out, and was ultimately diagnosed with that disease. Social media, for all its drawbacks, serves its purpose well in this regard. And again, the more identified patients there are, especially for rare diseases, the better.
  5.     Familiarize yourself with the drug development landscape. Take time to understand the research landscape. Set up Google Alerts for your disease. See what companies, if any, are showing interest in your disease. Get a sense of what may be holding back research. Is it funding? Awareness? Diagnostics? That will help you figure out where roadblocks may exist, and where your advocacy efforts would be best served.

All five steps are a form of advocacy. The most passionate advocates I know are patients. Many people, like myself, had no scientific or healthcare understanding before diagnosis, and have had to learn on the fly. But it is doable. It is important. And it will provide you with a sense of purpose that will make a ripple effect in the universe.

Christopher Anselmo is the Director of Market Intelligence at the Muscular Dystrophy Association. He is also a limb-girdle muscular dystrophy patient advocate and writer. Follow his journey at www.sidewalksandstairwells.com.

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