Rare Disease Week offers a storybook ending and road for optimism

By Patrick Kotnik – BDSRA Marketing & PR Coordinator

We were witnesses to a storybook ending on a day dedicated to raising awareness and educating others on Rare Disease Day.

Ron Bartek, the Co-Founder and President of Friedreich’s Ataxia Research Alliance (FARA), received word shortly before Rare Disease Day at NIH wrapped up that the FDA approved the first-ever drug for Friedreich’s Ataxia (a rare inherited disease that causes progressive damage to your nervous system and movement problems) called SKYCLARYS for the treatment of people 16 years or older.

Relief, emotion, and catharsis consumed Bartek, who lost his son, Keith, at age 24 due to heart failure from Friedreich’s Ataxia.

Ron Bartek spoke during the Legislative Conference just one day after the FDA approved the first-ever treatment for Friedreich’s Ataxia.

The news was the perfect recap to a day filled with inspiring patient stories, presentations on research and resources for the Rare Disease community, and a momentous kickoff for Rare Disease Week on Capitol Hill.

Among those resources include two from the National Center for Advancing Translational Sciences (NCATS). The first is the Genetic and Rare Diseases Information Center (GARD), a resource for rare disease patients and caregivers that provides “access to easy-to-understand information that is free and reliable.” This is still in development and once it’s fully developed and includes more detailed information about Batten disease, it can become a vital resource for the community, especially for newly diagnosed patients and their families.

 

The second is a Rare Disease Alert System that’s also currently in development. RAR-e SOURCE is another interesting resource that’s aiming to make it easier and more efficient to access and use available data to discover and develop treatments for rare diseases.

There can never be enough resources to provide families and BDSRA is always willing to check out any resources whether they’re new, existing, or in development if it means they’ll be beneficial to the Batten community.

Rare Disease Day was followed by the Legislative Conference in D.C. Wednesday to prepare for meetings on Capitol Hill Thursday.

I had two meetings – both with Ohio representatives in the House. My first was an in-person meeting alongside fellow rare disease advocates with a staffer from Representative Troy Balderson’s office and a virtual one-on-one meeting with a staffer from Representative Joyce Beatty’s office.

The EveryLife Foundation provided four legislative asks for attendees to choose to present to legislators: Support Rare Disease Appropriations Priorities, Cosponsor the Better Empowerment to Enhance Framework and Improve Treatments (BENEFIT) Act, H.R 1092 and S. 526, ask your Members of Congress to Join the Caucus, and join a congressional sign-on letter to the FDA requesting the formation of an internal FDA task force to review and inform agency-wide rare disease activities.

In these meetings, I mentioned that each of these would help benefit the rare disease community, but my ask was for a proclamation officially recognizing June 9th as International Batten Disease Awareness Day.

 

I’ve been working at BDSRA for almost a year. While I’m not personally affected by Batten disease, it’s even more important for me to learn as much as I can about the disease and most importantly, how it has affected patients, families, and the Batten community as a whole. Months ago, I was told that a big reason why they call a rare disease a rare disease is that not enough people know about it. That sticks with me each day and emphasizes the importance of sharing stories from the community.

There were incredible individuals who shared inspiring stories about themselves and their rare diseases. Abbey Hauser spoke about “becoming the captain in your rare disease boat” and Sharon King, a bereaved Batten mother to Taylor, and President of Taylor’s Tale shared her Batten journey as well.

Sharon King spoke during a panel at Rare Disease Day at NIH.

Those in the Batten community share a lot of the same frustrations as others in the rare disease community, and as cliché as it may sound, there are reasons to remain optimistic.

Raising awareness, like getting a proclamation to officially recognize International Batten Disease Awareness Day, can help BDSRA and the community take a step forward toward educating others about the disease.

In turn, that can help raise more donations for BDSRA and research, leading to more treatments, and eventually – a cure.

And maybe one day we can celebrate progress and a new milestone on Rare Disease Day – just like Ron Bartek and the Friedreich’s Ataxia community did this year.