Celebrating Life and Rare Disease Day

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In Honor of Laura’s 35th Birthday and Rare Disease Day.

An article by Marybeth Krummenacker

I was trying to think of a way to honor my daughter Laura’s 35th birthday this year and to celebrate her life in a way to appreciate the fact that she is here…despite the odds that I was told when she was diagnosed in 1989 at the age of 3 ½.

I have been thinking a lot about Rare Disease Day at the end of February and coincidentally Laura’s birthday is February 13…right there in the middle, so I am realizing what a lucky month February is in my life! I was reminded once again of a piece of legislation that had a direct impact on the cystinosis community…the Rare Disease Act of 1983, and after recently listening to Abbey Meyers (NORD founder) on a recent webinar simply tell her story of “just  being a grandmother from Connecticut”, I think of how lucky our tiny little rare disease community has been and for me personally, extraordinarily lucky!

I am always inspired when I hear Abbey tell the story about how the Orphan Drug Act of 1983 came to be. For anyone old enough to remember or young enough to Google, look for an old TV show called Quincy,  M.E. Jack Klugman was the star and he wrote two episodes with his brother Maurice Klugman, who happened to have a rare cancer. That ONE television show was the pivotal point of pushing the Orphan Drug Act of 1983 through Congress. It is probably one of the best stories about the power of ONE and how it has had a direct correlation to having changed the lives of thousands of people living today with rare diseases still and how it played a major part in lives of the cystinosis community and still does today after 38 years! A startling number that is glaring to me is the fact that in 1983 there were just 10 new products approved by the FDA to help those living with rare diseases. Today that number is nearly 1000! While that doesn’t seem like enough and many of the rare disease community can agree things should be faster, science and research do seem to work at a snail’s pace! But science and research IS a process and safety and efficacy are the paramount driving forces with any new product before approval. Hence, the reason it took 20 years to get approval on the Cystaran eye drops! But it was the long standing commitment between the drug company and the patients and doctors at the NIH that this happened and I am eternally grateful they did!

Considering that there are over 7,000 rare diseases affecting over 30 million people, it is a miracle that the cystinosis community has the number of FDA approved treatments at all; Cystagon, Cystaran, Procysbi and now Cystadrops. We are a worldwide community of approximately 2,000 people with approximately 600 in the USA! I know this is a lot of numbers but we as a community are blessed and I believe that to be true, but if it wasn’t for that ONE piece of legislation from 1983, we probably would have NOTHING. As a historical FACT, Cystagon is #41 on the list of the first 100 FDA approvals after that legislation became law! To me, that is a miracle!  

I am truly blessed that we will be celebrating Laura’s 35th birthday on February 13th! Without the brilliant minds of the many doctors in her life, the medications she takes and most importantly, without the research that was on-going and still is, without the critical partnership between advocacy partners and pharmaceutical industry leaders, we would have NOTHING and I know she would not be with me today! Laura is a survivor; rare disease, kidney transplant, breast cancer survivor and still going strong with a smile on her face and an attitude that tells me she will not be a victim of her circumstance! Laura is an incredibly strong person who I get my strength from every single day and we both consider every day to be a gift and a blessing. 

Wishing a very Happy 35th Birthday to the ONE and only Laura Elizabeth Krummenacker!