The Basics
Name:  Maria Kefalas

Title:  Co-founder and executive director

Organization:  The Calliope Joy Foundation

Social Media Links:

Disease focus: Leukodystrophies are a group of disorders affecting the brain’s white matter. The word comes from “leuko” (Greek for white) and “dystrophy” meaning “imperfect growth.” Leukodystrophies are characterized by imperfect development of the brain’s white matter. Children with leukodystrophy appear healthy and achieve their milestones but then lose the ability to crawl, walk, swallow, speak, eat, smile, and laugh. There are more than 50 forms of the disease, and one in 7,400 live births are affected. In most cases, once children develop symptoms they cannot be treated since the damage to the brain and central nervous system are irreversible. Newborn screening will be a crucial tool for finding children with leukodystrophy at birth since treatments can only work before the symptoms appear.

Disease focus: Leukodystrophies are a group of disorders affecting the brain’s white matter. The word comes from “leuko” (Greek for white) and “dystrophy” meaning “imperfect growth.” Leukodystrophies are characterized by imperfect development of the brain’s white matter. Children with leukodystrophy appear healthy and achieve their milestones but then lose the ability to crawl, walk, swallow, speak, eat, smile, and laugh. There are more than 50 forms of the disease, and one in 7,400 live births are affected. In most cases, once children develop symptoms they cannot be treated since the damage to the brain and central nervous system are irreversible. Newborn screening will be a crucial tool for finding children with leukodystrophy at birth since treatments can only work before the symptoms appear.

Headquarters: Bala Cynwyd, Pennsylvania

How did you become involved in rare disease: A year after my daughter’s diagnosis with leukodystrophy I learned about a clinical trial of a gene therapy in Milan, Italy to treat my daughter’s disease. It was just astounding to me that this treatment had basically shut down this disease in the three children that had been treated. My husband and I were excited to support this work and get involved to help champion this research to make it available to kids like our daughter. While we understood our daughter wouldn’t benefit, we were determined to make sure other kids would.

Previous career:  Professor of Sociology and Criminology at Saint Joseph’s University in Philadelphia

Education:  B.A. in Economics, Wellesley College; Ph.D. in Sociology from the University of Chicago, William T. Grant Foundation post-doctoral fellowship at the University of Pennsylvania

The Organization
Organization’s mission: Our mission is to be a catalyst for change. We realized very quickly that to be successful and impactful, we didn’t have to raise $5 million to for a clinical trial, but we could help families get to a clinical trial. We could support a program that was launching at a leukodystrophy center at a major medical center. We try to be strategic and focus on greasing the wheel. We try not to start from scratch. We try to bring in institutional players and stakeholders who are already interested and committed to this path and say to them, “What do you need and how can we help?” That’s been our focus. We didn’t launch the trial in Milan, but we did get 13 children to participate in the trial. We’ve provided travel grants and helped them return to Milan every six months. We also help families see specialists and get diagnostic help. It would be nice to raise $800 million and support centers all across the country. We target fundraising to support families and make an impact on helping them get the care they need and get them in a clinical trial that can be life-changing and life-saving.

Organization’s strategy: Our strategy is to collaborate, find institutional players who are interested and align with our interests, and figure out what is the best way to invest our time and resources. We are not about building things from scratch. We are about bringing smart people together and asking, “How can we help you accomplish your goals?” That’s been our model. One of our most successful initiatives helping to establish the Leukodystrophy Center of Excellence at the Children’s Hospital of Philadelphia in 2015.

Funding strategy: Our strategy is peer-to-peer fundraising. No gift is too small. We don’t get hung up on the fact that we couldn’t raise $1 million a year. We realized we could be smart, lean, and nimble with the money we raised. And empowering those families to see their gifts matter. When people see their fundraising, even small-scale fundraising, can make a difference it becomes very addictive.

What’s changing at your organization in the next year: We’ve had front row seats at the development of gene therapy. Our community is going to see two gene therapies go to the Food and Drug Administration by 2020. We now have dozens of children we can point to who have been successfully treated with gene therapy. We’re carrying not only the future of the care for our kids with leukodystrophy but paving the way for potentially hundreds of treatments for rare genetic disorders. There are a lot of eyes on us. It’s an incredible blessing for our community to have front row seats for this.

Management Style
Management philosophy: Less is more. I get to help people around me to see what their talents and strengths are and get them to focus on what they are good at. I just had a call with one of my collaborators and she was frustrated about something. She said, “I don’t know how you can handle this situation.” I said, “That’s okay that you don’t want to handle this situation. Let’s focus on what you are good at.” She said she’s not good at dealing with other families, but she’s good at dealing with politicians. I said, “You are good at getting stuff done on the political level. Let’s support that. Let’s not worry about what you are not as good at doing.” Sometimes people don’t see how much they are getting accomplished. I’m not comfortable saying “leader”—I’m more like a team captain and I try to get my players to be as amazing as I know they are and see what they are accomplishing.

Guiding principles for running an effective organization:  Ask for help. Surround yourself with really smart people. And always keep learning. I never feel that I am so great at this and have figured it out. I constantly seek advice from people who do what I want to do.

Best way to keep your organization relevant: I don’t think I have to do that because there is so much work in the field and so much interest in these diseases. We went from being a disease where there was no hope to having probably about half a billion dollars of industry investment in this space in the last five years. My biggest problem is managing expectations. How do we manage all of the people who are interested in these diseases and want to see new treatments become a reality? How do you invent something that doesn’t exist yet—a sustainable gene therapy medical care system?  How do you treat children before they get sick? We are part of this effort to reimagine medicine because of gene therapy. Our challenge is not staying relevant. Our challenge is, how do we do this well so that people are better who come after us?

Why people like working with you: I think they would say I work really hard. I hope they would say I make them feel good about what they contribute and that I make them aware that they have so much to offer, more than they may have realized initially.

Mentor: My mentor is Liz Scott of Alex’s Lemonade Stand Foundation. The minute my daughter was diagnosed with leukodystrophy, Liz and I got in touch. Alex’s Lemonade has been a real force for cancer research. It was Liz who said, “You have the power to make a difference. You have the opportunity to advance research.” She believed in me when I didn’t believe in myself. She said, “You can make a real difference for your daughter. That will be your legacy.” I’m grateful to Liz for seeing that talent in me when I didn’t see it in myself.

On the Job
What inspires you: Meeting the children with leukodystrophy who were treated with gene therapy. These kids, who should have been as sick as my daughter and paralyzed, and non-verbal, and in hospice. One of my friends just sent me a picture of her daughter going to a Girl Scout dance with her dad. To see a kid with leukodystrophy go to a dance with her father is not something I was ever supposed to be able to see or imagine was going to be possible. It gives me such joy to see children who should be sick and near death to get to be kids and get to have friends and play with Legos and eat hot dogs. I get to watch a miracle. It helps me get up everyday with a crazy level of energy. You never get tired of seeing miracles.

What makes you hopeful: I’m just so hopeful that after 30 years gene therapy is living up to its potential. I’m so hopeful because rare and genetic diseases that were so beyond hopeless five or six years ago when my daughter was diagnosed are at the center of a medical revolution that is changing the face of medicine. We’re about to see these genetic disorders in children—sickle cell disease, cystic fibrosis, SMA—they are all about to change. We hope to play a small part in that.

Best organization decision: To support the families who were involved in the gene therapy. We could have gone in a lot of different directions. Our funding has not been to funding research, but helping the trials succeed, helping the researchers get people who were willing to risk everything to be in the trials, and supporting the researchers and families in the clinical trials.

Hardest lesson learned: I’m not a doctor. I’m not trained as one. When things don’t go the way you hoped they would and don’t get the happy ending. When you have to tell families bad news that they won’t benefit from a clinical trial, to have to relive the worst day of your life with a newly diagnosed family, that’s hard.

Toughest organization decision: The toughest organization decision has been to stay lean and mean.  Part of me wants to grow the foundation, but I think that at this point, staying where we are at a mom and pop level, and keeping it nimble is good for us. It’s the right decision, but it’s tempting to want to grow and become larger scale.

Biggest missed opportunity: I wished I had not named the foundation after my daughter and been a little more expansive and thought of a more umbrella organization from the beginning. It was initially about my daughter and her story. I wish I had a bigger picture from the start.

Like best about the job: I get to be a part of watching the world become a better place. I get to see my daughter’s legacy, which will never make up for losing her, but it’s a pretty awesome consolation prize.

Like least about the job:  It’s hard to manage your feelings and emotions. It’s hard to be a part of this terrible tragedy for most families. It’s hard to know it’s going to change for lots of people. Right now, it’s changing for a small number of people, but you are just impatient to make these treatments available to more people sooner.

Pet peeve:  My pet peeve when people who want to help kids because of getting credit, money, or influence get in the way of progress. I don’t want to see people’s egos get in the way of progress.

First choice for a new career:  I wish I could do this full-time.

Personal Taste
Most influential book: I’m reading The Prize: Who’s in Charge of America’s Schools by Dale Russakoff about Mark Zuckerberg’s gift to the New York public schools, and I’m reading Dopesick: Dealers, Doctors, and the Drug Company that Addicted America by Beth Macy about the opioid health crisis. One is about industry failing and one is about a well-meaning philanthropy failing. I’m always interested in learning about how to do things better and learning from others’ mistakes.

Favorite movie: Sense and Sensibility – I’m a huge Jane Austen fan.

Favorite music
: Kacey Musgraves

Favorite food: Anything with chocolate in it

Guilty pleasure: Taking a long walk on the beach

Favorite way to spend free time: Walking my dog