Rare Disease Awareness with Kelly Berger and Avery Roberts

I’m a little late to highlight rare disease month.  Technically, the month of February traditionally is Rare Disease awareness month with Rare Disease Day falling on February 28th.  But, sadly, as is happening with so many awareness months and days in the US, the FDA/NIH planned 2 day meeting focused on Rare Disease Day on 2/27 and 2/28 was cancelled this year.  So, I guess I’m not too late after all, and instead I’m declaring today, the day you are listening to this podcast to be Rare Disease Day.  A day to raise awareness for the 300 million people world wide living with a rare disease.  

A rare disease is when a disease affects fewer than 1 in 2000 people. And that rareness causes significant challenges.  A lack of scientific knowledge and study about these diseases can make diagnosis more difficult. Many people with a rare disease spend a long time being misdiagnosed and therefore unable to access the types of treatments or support best suited for their actual disease.  Funding for research can be harder to find when you are studying a disease that impacts a smaller proportion of the population.  And yet, that smaller proportion does not make the difficulty of living with a rare disease any easier.  So awareness is incredibly important, to bring attention to those with rare disease, to create support and community, and to encourage research.  And today, I have two women as my guests on the show that are living with a rare disease.

Avery Roberts resides in New York, and is a wearer of many hats — an advocate, dancer, foodie, and avid traveler. She was the first wheelchair user to perform on the great stage of the world-renowned Radio City Musical Hall in New York City, as well as, separately, among the first few wheelchair users to feature in a nationally televised live production, where she appeared as a dancer.

Kelly Berger resides in Cincinnati, Ohio, and is a passionate advocate for rare disease, winning a 2024 RareVoice Award. She adores live music and is always attending a concert, typically driving states away to see her favorites. Kelly utilizes her adapted mobility van as her means of independence fueling her thirst for constant travel adventures—she’s explored over 40 states and counting.

They both have Congenital Muscular Dystrophy or CMD for short and they both were recently on Capitol Hill lobbying for Rare disease the last week in February.  We talk about rare disease, the challenges facing those in the disability community, and the importance of having a seat at the table.

Resources mentioned in this episode:

Rare Disease Awareness

Congenital Muscular Dystrophy

All Wheels Up