Rare Leader: Beth McGinn, Co-founder and Executive Director, A Cure for Ellie

The Basics
Name:  Beth McGinn

Title: Co-founder and executive director

Organization: A Cure for Ellie

Disease focus: Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation, or LBSL, is a rare genetic disorder that affects the brain and spinal cord. The exact number of people with this condition is unknown, and many may go undiagnosed, but based on reported cases, there are approximately 100 known patients worldwide. First identified in 2004, LBSL is caused by mutations in the DARS2 gene, which provides the body with instructions for making an enzyme called mitochondrial aspartyl-tRNA synthetase. This enzyme is important for production of proteins in the mitochondria—the energy factories of our cells, which turn nutrients into energy. As a result of mutations in DARS2, certain parts of the nervous system do not have sufficient energy to function properly affecting their function and the production of myelin. Much like the plastic coating around the wires in your home, myelin provides insulation to the nervous system and is essential for the transmission of signals from the brain to the rest of the body.

Headquarters: Arlington, Virginia

How did you become involved in rare disease: My daughter was diagnosed with a rare disease in 2011. She was three-and-a-half years old.

Previous career:  I worked on the Hill for a number of years for a congressman from Texas and worked for an advocacy group in Washington, D.C. that lobbies for transportation funding. I was working as a communications director for 14 years.

Education: Bachelor of Arts in political science from Rollins College in Florida

The Organization
Organization’s mandate: Our mission is to promote awareness and to raise funds for research into LBSL. We also support families with LBSL.

Organization’s strategy: Because we’re based here in Washington, D.C. we have a unique opportunity to leverage a lot of contacts here to create awareness for rare disease. I’ve done an event with Global Genes where we spoke in front of legislators. In terms of raising awareness, our strategy is to use what’s around us here in Washington. I use a lot of my contacts from the Hill, reporters that I knew. We have a lot of family members that work in politics and they have leveraged their contacts to raise awareness. In terms of research, we put ourselves out on social media and we’ve had such a huge showing of love on the Internet.

Funding strategy: People have donated from near and far. We’ve raised more than $300,000 that we’ve put toward research. Some of the money comes from an annual 5K run we do every April. That raises about $30,000 every year. We raise about $30,000 every year. We also do a big Internet push around Giving Tuesday. Throughout the year we do other little fundraisers.

What’s changing at your organization in the next year: I think we’re going to grow in terms of the number of affected patients who will be linking arms with us around fundraising. We have a number of families who have been diagnosed and indicated they want to get more involved in trying to raise money for research. I’m hoping we can grow in terms of that kind of support.

Management Style
Management philosophy: We’re a real mom and pop organization. We are really blessed that people pop up out of nowhere and say, “We want to help out.” Our philosophy is to take people up on their kindness and goodwill toward us. That’s how we’ve gotten so far—ordinary people saying, “I have a service or talent. I want to do something for you. I know a reporter somewhere who can help raise awareness.”

Guiding principles for running an effective organization: We keep our eye on the prize—it’s about these kids who are affected. If it’s in their best interest, that’s what we’ll go after. Everything is about seeing that these kids and parents have hope for the future.

Best way to keep your organization relevant: We just need to keep telling our story and the story of other children who are now being diagnosed. Telling the personal aspects of how this disease affects people is how we stay relevant.

Why people like working with you: I think people like working with Ellie. She gets lots of requests. She’s a real sweet kid and tries hard to be a spokesperson for this disease. Last week she got to interview Judy Woodruff from PBS News Hour.

Mentor: The other moms and dads I’ve met who are really battling for their kids. I’ve met some incredible people in the rare disease community. Their passion is so inspiring. If we could bottle up all of the passion and motivation that rare disease parents have, and mass produce it, we could solve all the world’s problems. You’d do anything for your kids. Even though the task seems insurmountable, I’ve met some amazing parents who don’t take no for an answer.

On the Job
What inspires you: My daughter, her enthusiasm for life, and her great attitude about her condition.

What makes you hopeful: I just feel like we are on the cusp here of some amazing things in sciences and research. Things are moving so fast—at light speed—in terms of our ability to understand the underlying mechanisms. I am very hopeful that in the next five years we will have a cure, not just for LBSL, but for a ton of rare diseases that affect so many people.

Best organization decision: The best decision was just to get started, just to put one foot in front of the other and start a foundation. At the time, there was no research being done into LBSL. Our family members convinced us to start raising money now because if something does come along you want to be able to jump on it and support it. I was skeptical at first. I am more of a private person. I didn’t want to put ourselves out there. I’m so glad we decided to do this because we’ve come so far in a short amount of time. I truly believe we will get the cure.

Hardest lesson learned: Not everyone’s journey is the same. When you meet newly diagnosed patients, you have to realize that they are at where you were at eight years ago. They are going through grieving. Everyone handles that process differently. We thankfully have made it through a very dark place and have hope about the future. We need to support these families in a way that is best for them and let them figure out how they want to either join the effort or come to terms with the diagnosis. We need to support them as best we can. Everyone needs a little something different.

Toughest organization decision: We are stretched a little thin. Sometimes we’ve had to turn down people’s offers to do a fundraiser because we don’t have the bandwidth to do two things at once and had something else going on. It sometimes comes down to how much time and manpower we have.

Biggest missed opportunity: The same thing. Somebody offered to do a fundraiser for us and we couldn’t do two in the same month. We probably missed out on a few fundraising opportunities.

Like best about the job: We are offering hope to so many people. I love that. People who have been told there is no hope and to go home and take care of their loved ones and watch them decline. The fact that we can give that family information that can change their outlook on how to care for their loved ones. There are things you can do. That’s the best part.

Like least about the job: The part I like least is when a parent has a loved one pass away, which has only happened once since we started this. I take it personally. We feel like we are on the same journey with them. People across the world are having the same issues you are having and no one else understands except the two of you. Their grief becomes your grief.

Pet peeve: When parents are told there’s no hope for the future—that is my pet peeve because that is not true. It’s so upsetting. My daughter is on a mitochondrial cocktail, which has changed the trajectory of her disease path. When doctors won’t be open minded enough to consider alternative therapies, that is my pet peeve.

First choice for a new career: I like this one. If I could be the CEO of the company that creates the drug that leads to the cure, that would be the only thing better than this.

Personal Taste
Most influential book: Banished from the Homeland by Crissa Constantine.  It was the story of a woman chased out from her home during World War II. It was essentially my mom’s story. She was a refuge from World War II. No matter what’s going on in your life, it can always be worse. Her ability to persevere is inspiring. It was my mom’s story too.

Favorite movie: Steel Magnolias

Favorite music: Jimmy Buffett

Favorite food: Greek food

Guilty pleasure: Chocolate

Favorite way to spend free time: Playing soccer

December 6, 2018