The ups and downs of being the exception

Yesterday was Rare Disease Day. Now y’all know how I feel about days. However, this year this one caught my attention.

The definition of a rare disease in the US is one that affects 200,000 people or less. Approximately 12,000 people are diagnosed with ALK+ lung cancer annually. However, given the amount of time ALK+ has been a thing (since late 2007) as well as our still high mortality rate, we are a rare disease.

Let me tell you about when I found out I had ALK+ NSCLC. It was August of 2008. And to the best of my knowledge, only three other people had been identified as ALK mutants.

Lonely does not begin to describe how it felt. However, I also experienced hopefulness–I was, after all, a dying woman who had suddenly been thrown a crumb (a mutation–targetable–with a phase I clinical trial at my very hospital). Gratitude, as well, that a big ass pharmaceutical company like Pfizer would have taken on such a rare disease.

By the time I was diagnosed with ALK+ lung cancer, the first of my kind would have passed away. I never even knew his name. However, numbers two and three would become fast friends of mine. Unfortunately, number three, Kevin Brumett, passed away in the spring of 2009. However, number four, Sarah Broom, and I had the time to develop a very close friendship. Sadly, Sarah passed in 2013.

By now, thousands of people have been diagnosed with ALK+ lung cancer. We have become a large, extended family.

I am, I must suppose, the longest surviving ALK mutant. However, so very much has changed since 2008.

There continue to be new treatments, attested to by the fact that I am currently enrolled in my fifth clinical trial (Alice corrected me last week–lorlatinib plus chemo was not a trial. I apologize for exaggerating my credentials 😉 ) And my ALK family is one to be flipping proud of. The energy they have for support, raising awareness, and generating funds for research is incredibly humbling.

In the lingo of cancer, unexceptional is a good thing. However, in another sense, everyone I have met on this path is truly exceptional. In the best of all possible ways.


2 responses to “The ups and downs of being the exception

  1. Bill Schuette

    Interesting, I’m not sure where I stand (diagnosed Aug. 2009) in your “Surviving ALK Mutant” list but I hope for your continued success and feel very fortunate to have met Dr. Shaw.

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