Rare Leader: Jill Kiernan, Founder and Executive Director, Tatton Brown Rahman Syndrome Community

The Basics
Name: Jill Kiernan

Title: Founder and executive director

Organization: Tatton Brown Rahman Syndrome Community

Social Media Links: 

Disease focus: Tatton Brown Rahman Syndrome (TBRS) is a rare genetic disease caused by pathogenic variants in the DNMT3A gene and for that reason it is also called DNMT3A Overgrowth Syndrome. Individuals with TBRS have overgrowth—typically, tall stature, increased weight, and large head circumference (also known as macrocephaly)—mild to severe intellectual disability, and subtle but distinctive facial characteristics. There are a variety of other symptoms that are also associated with TBRS, such as low muscle tone, behavioral and mental health issues, orthopedic problems, cardiac defects, seizures, leukemia, and autism, but not all individuals have every clinical finding reported, and the syndrome varies considerably in its severity.

Headquarters: Stanfordville, New York

How did you become involved in rare disease: I have two wonderful children, Aiden and Aevary. My daughter Aevary had health and developmental concerns since birth. We spent the first 10 years of her life seeking a diagnosis and being misdiagnosed in the process. As a last-ditch effort to find a diagnosis, we participated in a research project called the Childhood Overgrowth Study at the Institute for Cancer Research in the United Kingdom. That study identified TBRS, then called DNMT3A Overgrowth Syndrome, and Aevary was one of the first 13 people in the world to be diagnosed. I started the TBRS Community in an effort to connect with other families and to learn more about what we were facing.

Previous career: I was a certified teacher, but when Aevary had health and developmental issues I needed to shift to something more flexible. My professional and personal experience of working with people with disabilities led me to start a business as a support broker. I worked to connect people with disabilities to supports in the community.

Education: B.A. in Human Ecology and Education from College of the Atlantic, Bar Harbor, Maine

The Organization
Organization’s mission: The Tatton Brown Rahman Syndrome Community aims to support all families affected by TBRS and advance research toward interventions.

Organization’s strategy: The TBRS Community keeps the patients and their families at the center of all our work. We educate and support our families. We survey our community to learn about their priorities and biggest concerns—and then we use those findings to guide our initiatives so that we have those greatest needs front and center in our programming. We meet with TBRS and DNMT3A researchers and clinicians. Because there are so few people who actually study TBRS, we have to be creative and think about areas of research that might be related to TBRS. For instance, we had a scientist speak at our research conference who studies the brain mechanisms of overeating, so that we might better understand if this is related to obesity and overeating in our population. We developed our patient-led Collaborative Research Network with our patient community’s priorities in mind and we gathered researchers and clinicians from around the world who are working on TBRS with the goal of developing treatments and cures. We try to encourage openness and collaboration in what can be a very competitive field.

Funding strategy: As a young organization we have largely depended on grassroots fundraising efforts. We recently shifted our efforts to seek out more grant funding. We are so fortunate to have been selected as recipients of the Chan Zuckerberg Initiative’s Rare As One grant for the next three years. We look forward to the training in capacity building that this grant provides. We are still doing that grassroots fundraising to complement CZI with dollars that can fund research directly. We’re also constantly on the lookout for opportunities—whether that’s to support a virtual conference or develop research resources.

What’s changing at your organization in the next year: The Rare As One Network is not only providing financial support, but also specialized training and participation in the Rare As One network where we will learn from other rare disease patient organizations. The Rare As One grant will allow me to come on as a full-time executive director. I’m excited to focus 100 percent on the TBRS Community. We’ll also be bringing on a research coordinator—someone who has a strong scientific background to help coordinate our patient-led Collaborative Research Network. At the same time, we’ll be expanding on our medical advisory committee with the creation of a scientific advisory committee, to help guide us in our efforts to support and fund research and identify the pathway to treatment development. Finally, we will be working with the Black Women’s Health Imperative’s Rare Disease Diversity Coalition to address issues of diversity.

Management Style
Management philosophy: I believe it is a leader’s job not to have all of the skills to single-handedly run an organization, but to gather a diverse group of people with varied interests, skills, and experience to work as a team to achieve our goals. There is no better feeling than to hand an aspect of a project off to one of our amazing team members and know that the product is going to be superior to what I could have done myself. A manager’s job is to gather and nurture a strong team, provide vision and guidance, be an active listener, and accept feedback from the community.

Guiding principles for running an effective organization: Be a good listener. Know your community and remember you are working for them every day. Be open and honest. Be appreciative of the donors, volunteers, clinicians, researchers, and families. Learn something new every day to help me improve.

Best way to keep your organization relevant: I hope someday we identify treatments and cures for TBRS so we can work our way out of being relevant. Until then, we will continue to provide education and support, increase awareness, and work to improve the quality of life for people with TBRS.

Why people like working with you: I think people trust that I am always giving 100 percent because as a TBRS parent, I am dedicated and personally invested in doing my best as a leader of the TBRS Community. They know I have a shared history and experience. I try to make people feel valued by being inclusive and welcoming.

Mentor: I reached out to Kristen Davis, founder of CLOVES Syndrome Community, when I was forming the TBRS Community. I am a firm believer in networking, and not trying to reinvent the wheel. She has continued to be a great support along the way. The TBRS Community now collaborates with a number of rare disease organizations, especially overgrowth organizations. For example, we have been working closely with the Malan Syndrome Foundation.

On the Job
What inspires you: I think about the first time I met another TBRS Family. We were at the Child Growth Foundation Convention (they were early collaborators that kindly offered to include TBRS in their convention). I saw this family from across the parking lot and knew it was another TBRS family because our kids looked like siblings. They even had similar mannerisms. We ran across the lot and hugged. It was surreal and powerful. There is something magical that exists between our families. A deep sense of connection and understanding. That fuels me.

What makes you hopeful: The families make me hopeful. I have never been a part of a more motivated, thoughtful, and caring group of people. This includes our board of directors, committee members, and volunteers. These people can move mountains together. We also have this incredible network of scientists from around the world who spend their days working on TBRS. I just know that one day, not too far from now, they will call me to tell me about a breakthrough in their work that will help improve the quality of life for our TBRS Family.

Best organization decision: It was a priority early on to develop a family conference. It sparked that feeling of community and connection, which drives our work as an organization. You work hard for your family. The TBRS Family is no exception.

Hardest lesson learned: We can’t do everything today. Be patient.

Toughest organization decision: It’s been hard to plan around COVID 19. I wish we could have gotten together for our family conference, but we needed to cancel it. The silver lining is that we got a crash course in the virtual world. Our virtual conference was more accessible to families around the world, and far more affordable. We just missed hugging each other and having our dance party at the end of the day.

Biggest missed opportunity: There were opportunities we had to pass on—like the first round of CZI Rare As One funding—because we weren’t ready yet, but thankfully there seems to be a growing interest in rare diseases, from funders, researchers, and society in general, and so I’m confident opportunities will continue to come our way. And in fact, CZI round two did come our way—we were finally ready to bring our organization to the next level and apply.

Like best about the job: I am excited to get out of bed every morning and work for the TBRS Community. My favorite part is collaborating with these incredible parents, people with TBRS, other rare disease community members, doctors, and researchers.

Like least about the job: I worry a lot about doing my best for the TBRS Community. There are so many directions a day can take, and so many tasks that are left undone due to a lack of time and resources. We have a big list of projects in the pipeline that want our attention. I focus on building our team and resources to get those things addressed asap.

Pet peeve: My husband will tell you: I can’t stand it when people chew with their mouth open or talk with food in their mouth. I’m generally a very kind and patient person, but that can make me pretty grumpy.

First choice for a new career: I wouldn’t want to do anything else, but if I had to choose, I would always want to be connected to working with people with disabilities. I learn so much and it is very rewarding to me.

Personal Taste
Most influential book: Chasing My Cure: A Doctor’s Race to Turn Hope into Action; A Memoir, by David Fajgenbaum. It was a timely read for me. I read it when we were in the midst of planning our first Collaborative Research Network Conference. It reaffirmed that we were on the right track and gave some guidance for moving forward.

Favorite movie: I loved reading Harry Potter. We read it to my son Aiden, and then to Aevary (though she wasn’t as into the series). Then we really enjoyed watching the movies together. We went to the midnight showings and everything.

Favorite music: I’ve been a big Bruce Springsteen fan since I was a kid.

Favorite food: I love going out for Indian food because I can’t make it well myself. I’m a vegetarian and they have some great options.

Guilty pleasure: Binge-watching TV—most recent favorite was Ted Lasso.

Favorite way to spend free time: I love being able to go for little hikes with my family. Aevary has had multiple surgeries and orthopedic issues through the years. This has made family hiking a real challenge, and impossible at times. This summer she got to the top of a little mountain called Flying Mountain in Acadia National Park for the first time in years. That was really meaningful to our family. Being a part of the rare disease community really makes you appreciate the little things that others may take for granted.