Rare Leader: Chelsey McCarthy, Executive Director, DDX3X Foundation

The Basics
Name: Chelsey McCarthy

Title: Executive director

Organization: DDX3X Foundation

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Disease focus: DDX3X is caused by a spontaneous mutation at conception or can be inherited. It primarily affects girls due to its location on the X-chromosome, though there are affected boys. It was discovered in 2014. About 700 individuals have been diagnosed with the condition, however, doctors believe it is the cause of 1 to 3 percent of all intellectual disabilities in females. It is often misdiagnosed as autism spectrum disorder, cerebral palsy, Rett Syndrome, Dandy Walker Syndrome, or a generic developmentally delayed label. DDX3X is linked to intellectual disabilities, seizures, autism, low muscle tone, abnormalities of the brain, and slower physical developments. The condition has a broad spectrum—some children learn to speak in full sentences while others are nonverbal; some individuals run, jump, and even ski while others are unable to walk.

Headquarters: Wilmington, Delaware

How did you become involved in rare disease: Early in my career I worked at a boutique public affairs and events planning firm in D.C. where I had several different clients. They were all nonprofits, but it ran the gamut of healthcare, education, and women’s issues. One of my clients there was the National Organization for Rare Disorders, and I planned their spring gala. I just loved it. Whenever I felt like it was time for me to move on from that job, I looked for something where I could still be involved in the rare disease space. I went on to found all of the patient engagement activities for the Alliance for Regenerative Medicine.

Previous career: Spent more than six years in patient engagement for the Alliance for Regenerative Medicine

Education: B.S. in public relations from West Virginia University and M.S. in integrated marketing communications from West Virginia University

The Organization
Organization’s mandate: Our mission is to connect families, resources, and the medical community to advance research to find a treatment or a cure.

Organization’s strategy: We take a multi-disciplinary approach. We work with the patients. We work with researchers in a lot of different areas. We’re getting involved with industry now.

Funding strategy: More than half of our funding comes through donations from family and friends. We were also very fortunate to receive a Chan-Zuckerberg Initiative grant in 2020 for $465,000, which was to be used for capacity building. That how the foundation was able to hire me as its first executive director.

What’s changing at your organization in the next year: We’re growing up a little bit. We’re formalizing some of our processes, expanding our scientific advisory board, and forming a leadership advisory board. We’re also hopefully planning our first international conference in Europe. We’re fortunate to be in a position to be able to take the foundation to the next level.

Management Style
Management philosophy: To trust people. And I think it’s important to, at one time, have done as much of the work you are asking others to do yourself as possible. It’s always better when you can say, “I started out answering the phones. I started out writing all the emails or scheduling all the meetings. I don’t ask anyone to do something that I wouldn’t be willing to do and then I trust them to do their jobs.

Guiding principles for running an effective organization: Just try something. Even if everything you try isn’t successful it’s always better to do something and learn from it than to do nothing at all.

Best way to keep your organization relevant: Listen and read a lot. It’s important to listen to the patient community and hear from them what they want and what they need. It’s also important to read a lot in terms of sector trends, what’s happening in the rare disease space, what’s happening in biotech, and what the research trends are.

Why people like working with you: I try to maintain a positive attitude. I’m willing to jump in and be a team player on anything.

Mentor: I would say my mentor is my mom first and foremost, but then I’m also fortunate to work at the foundation for the two incredible moms who founded the organization—Beth Buccini and Liz Berger. They have such passion and drive and I’ve learned so much from them.

On the Job
What inspires you: It’s always the people. I love working with the kids specifically.

What makes you hopeful: When I started working at the Alliance for Regenerative Medicine, there weren’t any approved gene therapies in the United States. During the time I was there we saw many being developed and some come to market. It really reminds me that anything is possible.

Best organization decision: To try something. Whenever somebody comes to you with an idea or something that they’re willing to work on, give it a try and to see where it goes. It’s keeping an open mind and seeing what works.

Hardest lesson learned: The hardest lesson learned is always that you can’t do everything. It’s tough because you’re working with kids that have a rare disease and you want to make a difference for them but at the end of the day, you can’t do everything at once.

Toughest organization decision: We only have so many resources, so it’s trying to decide where to put those.

Biggest missed opportunity: The biggest missed opportunity is not having the bandwidth to pursue all of the funding opportunities that are available.

Like best about the job: Every day I feel like I’m doing something that matters. I’m directly helping patients and their families.

Like least about the job: Even if you work 24 hours a day, there would still be something that you didn’t get done.

Pet peeve: When somebody is expressing a disappointment or something negative in their life, and somebody says, “At least you didn’t have X happen to you like I did.” It’s comparing grief and negative experiences.

First choice for a new career: I would love to be an author.

Personal Taste
Most influential book: The Year of Magical Thinking by Joan Didion

Favorite movie: Wedding Crashers

Favorite music: Yacht rock

Favorite food: French food

Guilty pleasure: So much ice cream

Favorite way to spend free time: With my daughter and my husband and my dog at the beach.