Guest Post: A Cure for Ellie on Leukodystrophy-LBSL

Conversations and healthy debate about issues facing our industry and the health care system are critical to addressing some of today’s challenges and opportunities. The Catalyst welcomes guest contributors, including patients, stakeholders, innovators and others, to share their perspectives and point of view. Views represented here may not be those of PhRMA, though they are no less key to a healthy dialogue on issues in health care today.

We are pleased to host a Q&A with Beth McGinn, operator of “A Cure for Ellie,” a non-profit foundation named for her eight-year old daughter. A Cure for Ellie supports cutting edge research currently underway at the Kennedy Krieger Institute’s Moser Center for Leukodystrophies in Baltimore.

How are the challenges facing the rare disease community unique in comparison to those facing people with more prevalent illnesses?

I think the obvious answer is that there aren’t as many resources or support groups. When we first Googled the name of our daughter’s disease, only one link popped-up and it was from a medical journal describing the symptoms – no patient organizations, no support groups. That’s a very lonely feeling, and it is what motivated us to launch our foundation “A Cure for Ellie” in 2013. We wanted to make sure that no other parent ever has to go through this alone.

Given the theme of this year’s Rare Disease Day is research, is there any specific research currently underway into new medicines for people with rare diseases that you’re particularly excited about?

Shortly after diagnosis, we were put in touch with a family friend who works in the medical world, and he inspired us with news of breakthroughs such as viral vectors and other techniques that can alter DNA and deliver missing molecules into the body. It sounded like science fiction, but it also gave us great hope. We suddenly realized that our family is living in a world on the verge of some pretty amazing discoveries, and we thought to ourselves, “Why not? Why can’t Ellie be part of this revolutionary moment in medicine? Maybe this is part of her purpose on this planet.”

Are there any examples of progress in the fight against rare diseases in recent years that have inspired you in your work?

We are inspired by the O’Neill family and their daughter Eliza who recently underwent gene therapy to help her overcome San Filippo Syndrome. I met Eliza’s father at a rare disease summit last fall, and they have been a constant source of inspiration. They now spend their energy making sure other San Filippo families get access to the same gene therapy Eliza has undergone. They also serve as a resource to other types of rare disease parents like me who want to emulate their success.

What do you want people to know about people with rare diseases and the challenges they face?

I want them to know that they are part of the solution. Their donations, prayers and words of support are what bolster families like us and keep us energized in the fight to save our loved ones. If you know someone who has been diagnosed with a rare disease, or they pop-up into your social media feed, don’t be afraid to reach out with words of encouragement. Offer your support, no matter how small. It makes the biggest difference!

 Learn more at: www.ACureforEllie.com.