RARE Daily

Rare Leader: Eric Cole, Executive Director, Dandy-Walker Alliance

January 23, 2020

The Basics
Name: Eric Cole

Title: Founder and executive director

Organization: Dandy-Walker Alliance

Social Media Links:

Disease focus: Dandy-Walker syndrome is a congenital brain malformation involving the cerebellum (an area at the back of the brain that controls movement) and the fluid filled spaces around it. Prenatal diagnosis may be indicated by ultrasound and conformed via fetal MRI. The syndrome can appear dramatically or develop unnoticed. Symptoms, which often occur in early infancy, include slow motor development and progressive enlargement of the skull. In older children, symptoms of increased intracranial pressure such as irritability, vomiting, and convulsions, and signs of cerebellar dysfunction such as unsteadiness, lack of muscle coordination, or jerky movements of the eyes may occur. Other symptoms include increased head circumference, bulging at the back of the skull, problems with the nerves that control the eyes, face and neck, and abnormal breathing patterns. Dandy-Walker syndrome is frequently associated with disorders of other areas of the central nervous system including absence of the corpus callosum, hydrocephalus and malformations of the heart, face, limbs, fingers and toes.

Headquarters: Kensington, Maryland

How did you become involved in rare disease: In 2004 my wife became pregnant. Then on President’s day in 2005 when we had a sonogram to find out if we’re going to have a boy or a girl, we learned we were going to have a boy and were told that the back of his brain was missing. He had a condition called Dandy-Walker syndrome.

Career: Currently serves as deputy executive officer at the National Cancer Institute

Education: B.A. in American government and politics from the University of Maryland College Park and an M.S. in Computer Management Systems/Information Assurance from the University of Maryland Global Campus

The Organization
Organization’s mission: Initially it started as a resource to connect families from all over the world and share peer reviewed medical journal articles and information, but it grew from there to where people began donating money at a level where we could fund our own research.

Organization’s strategy: Our approach is to make sure that the families are supported and are able to connect with the resources local to them. We’ve gotten good about providing advice on things outside of the rare disease community—things like Medicaid waivers, insurance types of questions and early intervention services. We can field a lot of those types of questions.  Now, with a worldwide constituency, we can easily connect somebody in a town in Pakistan with others, usually in that same town of Pakistan, so that they can understand what clinicians’ or therapists’ other families use for treatments or interventions locally. At the same time, on our research side, we assist with patient recruitment and fund whole exome sequencing to identify new genes involved in the birth defect. We also have a separate project where we’re using machine learning and deep learning analysis to train an algorithm to identify genetic variants quickly with a high level of confidence. Right now, a bioinformatician has to comb through terabytes of exome sequence data in trios of mom, dad, and the affected biological child.  Our goal is to train an algorithm to go through the data analysis much faster than a human would be able to do and let the bioinformatician confirm the results.

Funding strategy: We don’t have any paid staff and we are 100 percent volunteer run. Because we are a virtual organization without a lease or salaries to pay and I’m able to perform the IT work, we have next to no overhead. I don’t feel any pressure to do any formal fundraising. We have been blessed with the generosity of families across the United States who have decided to hold fundraisers on our behalf and corporate entities that support us, but in 14 years, I’ve never had to go out and do any formal fundraising.  The Dandy-Walker community is very generous.

What’s changing at your organization in the next year: One of our priorities for 2020 is to raise more awareness of Dandy-Walker in the global community. We’re getting more referrals from individuals who say, “I heard about your organization from somebody else.” The more we get out there in the community and make it known that we are a free resource—we don’t charge anybody for anything we do—the more families we can serve. If you decide you want to donate, that’s up to you. Raising awareness around the birth defect is something that people can do easily without having to understand the science.

Management Style
Management philosophy: We approach everything with compassion and without judgement. If someone is given the diagnosis while they are pregnant, it is unexpected and tough news to swallow. We want to make sure they have all the information they want about the diagnosis and their local resources for them to decide the best course of action and treatment going forward.

Guiding principles for running an effective organization: Honesty, respect for everybody, and transparency. When we find out that there is better data out there, or a different approach, we are not afraid to pursue that.

Best way to keep your organization relevant: We have to continue to help each other in a learning environment. We disseminate the information we have based on what we know about the science. Laws change. Science changes. We have to be open to what those changes may be and attentive so that we are always looking for where those advances are and provide that education to our community.

Why do people like working with you: Again, we’re not judgmental. We’re honest, transparent, and the price is right. We don’t charge anybody for anything we do. When I formed the organization, I set it up to be an organization without members because I didn’t want someone to feel compelled to join or pay dues to receive the information we have. People can freely take it and do what they want to do with it. It’s not out of the ordinary that we get referrals, phone calls, or emails from others in the rare disease community who have a question. While we may not be able to answer a question specific to a particular diagnosis outside of Dandy-Walker syndrome, if their questions are Medicaid waiver related, or trying to find local connections to others in the rare disease community, we’re always more than willing to do that.

Mentor: There’s a lady named Dona Dei at the March of Dimes National Capital Area Chapter in Washington, D.C. and an attorney named David Greenberg, both of whom were instrumental in helping our foundation get going. The March of Dimes could not have been a better resource for that. Over the years, we’ve learned a lot from various nonprofits, but the March of Dimes would be by far the largest. From a mentee perspective, they’ve always been willing to help us whenever we ask.

On the Job
What inspires you: All the things my son with Dandy-Walker syndrome can do at the age of 14. I’ve gotten to meet thousands of families now over the years, losing loved ones or living with loved ones who have Dandy-Walker syndrome and seeing the blessings each and every one brings to their communities. That inspires me. It reminds me to appreciate what we all have. It also gives me the opportunity to celebrate small things that I think many individuals otherwise might take for granted. Whether it’s getting a zipper for the first time, getting the button on a shirt, tying a shoe, being able to take a first step without the walker or communicating with a message board—those are things that are exciting achievements that not everybody gets to experience but that our community gets to celebrate every day.

What makes you hopeful: We are still learning. The science is still evolving as is the medical knowledge. My dream is that one day we will find a way to definitively identify Dandy-Walker syndrome early enough in the pregnancy where we can intervene noninvasively and correct for that so that the part of the cerebellum that’s underdeveloped will be developed and they won’t have to experience the symptoms of Dandy-Walker syndrome. The other thing that gives me hope is just the beauty of basic science in that while we are certainly looking for more genes involved in Dandy-Walker syndrome, we stumble on genes for other diagnoses as well, and others may stumble on something for us. There’s great hope when you look at the rare disease community. You could look towards cystic fibrosis and see the advances that are being made with science there, and the use of the CRISPR/Cas9 gene editing technology and things like that. There are life-extending solutions that may one day be used for our community. And that’s just what we know today. Who knows what will be developed in five, 10, 15, 20 years from now?

Best organization decision: The best decision was not to try to do everything. We have stayed focused to our mission of supporting families and funding research. We will get questions like, “Why won’t you buy a wheelchair for my loved one?” It’s not that we couldn’t buy it, but it’s not part of our mission. There are other entities out there that could provide for that mechanism. What we’re trying to do is help fill that niche that nobody else has. There’s no other nonprofit out there for Dandy-Walker syndrome. There’s nobody else to connect these families together. There’s nobody to point them in the direction of where peer reviewed reliable information exists so that they can mine it themselves or to share the referrals that we can. I’d welcome the competition if there were somebody else who would want to start an organization. I’ve had discussions in the past with other families that had ideas and I’ve said if that’s what they want to do, I’m happy to help them. For whatever reason, they decided not to do that.  We have helped others form nonprofits, but they weren’t for the Dandy-Walker syndrome community.

Hardest lesson learned: You can’t help or get everybody linked up with an appropriate provider everywhere in the world. I get letters with pictures from some of the most rural places on earth with families living in huts where you can see daylight coming through the wall. I got a letter from a family in Mongolia that has a daughter with Dandy-Walker syndrome and clearly untreated hydrocephalus. There’s no way for us to help them get a visa into the United States for treatment. There’s not a neurosurgeon local to them where they have the means to travel. Those are the hard scenarios. You want to help everyone, especially those with a child in need.

Toughest organization decision: I got a phone call one day from a woman who asked me how cruel was I for giving people hope? I told her we have a difference of opinion on this matter and we’re just not going to agree.

Biggest missed opportunity: I’m sure there are partnerships that could be developed if we were to devote more time out there building that network, but it would be at the expense of something. We tend to network far and wide so that people will make referrals to us of other organizations whose missions align, and we can help one another. We try to pursue anything that looks like a good opportunity, but we won’t do it at any expense. Where there is a natural synergy, we will pursue it.

Like best about the job: It’s extremely fulfilling, and it doesn’t feel like a job. We have an amazing community. I love the people. The kids are all beautiful. I’ve met some great people across the world. I’m genuinely excited to meet other families and everybody’s got something to contribute.

Like least about the job: There’s not enough hours in the day to do as much as one would want. I’d love to increase the awareness in other countries around the world, and this is happening. The tough part is in some of those non-native English-speaking countries, there’s a barrier there for me. I don’t speak another language. We are catching on and doing a better job in Australia and certainly in the U.K. and in many of the Western European countries where the populations either speak English or tend to be bilingual. However, there are other areas of the world, China for instance, that if you just look at the numbers, there’s got to be a massive amount of people there that we could serve. I don’t yet have a good way to do that.

Pet peeve: Lots of people have great ideas. Sometimes you need help executing some of those ideas. Sometimes people have an idea, but don’t want help executing it. Then it becomes a matter of prioritization. I’ve got far more things that I want to do than I have time in the day to do it. I have a wife, a 14-year-old son, and a day job. I’m not going to take away time from my family and I’m not going to give up my career. I have different compartments for everything. I think that’s healthy because it means I don’t get burned out, but it doesn’t mean that the list of to-do items always gets completed.

First choice for a new career: I’m already doing my retirement job.

Personal Taste
Most influential book: You Can Negotiate Anything: The World’s Best Negotiator Tells You How To Get What You Want by Herb Cohen

Favorite movie: Lost Boys

Favorite music: Alternative rock

Favorite food: Seafood

Guilty pleasure: Dark chocolate

Favorite way to spend free time: If I’m with my family, it’s attending a baseball game.  If I’m by myself, it’s running. Running clears my head and it’s where I come up with a lot of ideas.

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