Rare Leader: Katheryn Elibri Frame, Founder and President, CDKL5 Research Collaborative
August 16, 2018
Name: Katheryn Elibri Frame
Title: Founder and president
Organization: CDKL5 Research Collaborative
Disease focus: CDKL5 disorder is a rare, x-linked genetic disorder that manifests itself in the first few weeks or months of life with early-onset seizures. There are approximately 1,500 cases in the world, but that number grows on a weekly basis, as improved genetic testing has evolved. CDKL5 disorder is a neurological condition that causes treatment-resistant seizures and often severe developmental and cognitive impairments. The CDKL5 gene is located on the short arm of the X chromosome and is responsible for making the CDKL5 protein, which is critical for normal brain development and function. Children born with this disorder have impaired or deficient CDKL5 protein in the brain.
Headquarters: Ann Arbor, Michigan
How did you become involved in rare disease: In 2008, my then three-year-old daughter Kiera was diagnosed with this ultra-rare disorder called CDKL5 disorder. At the time, nothing existed in the way of research studies or potential treatments, so my husband and I jumped in and partnered with a few other parents and formed a research organization, the International Foundation for CDKL5 Research. We created a roadmap to a cure and funded research projects to help lay a solid foundation of basic research tools, so that all future research could build on that. After serving as president and science director of IFCR until August of 2017, we have now turned our attention to what we believe are under-represented areas of CDKL5 research, which is clinical care, neuroplasticity, and advocacy. Our new organization, the CDLK5 Research Collaborative, emerged more out of a pursuit to find a different approach to clinical care and to support and advocate for the CDKL5 community within the medical profession, with the public, and at the state and federal policy-making level.
Previous career: I was an attending physician in emergency medicine in the Detroit and Ann Arbor, Michigan area. However, in the past year I have stepped back from direct patient care activities to focus on research, this new organization and its mission, and to take care of our daughter who is currently very fragile and struggling with this devastating disorder.
Education: I received a B.S. in biology from Wayne State University and an D.O. from Michigan State University College of Medicine. I completed two residencies at Cook County Hospital (now John H. Stroger, Jr. Hospital) in Chicago in Internal Medicine and Emergency Medicine. I’m board certified and a diplomat of the American Board of Emergency Medicine.
Organization’s mandate: We believe, with strong collaboration and a commitment to education, advocacy, and awareness, that our organization, the CDLK5 Research Collaborative, will be a leader in funding clinical and therapeutic research, and developing treatments and standards of care to help improve lives now for those living with CDKL5 disorder.
Organization’s strategy: The key part of our strategy is collaboration with stakeholders. We are focused on clinical care but having personal perspectives and experiences on multiple sides of rare disease–as patient, physician, and scientist–we know clinical care and research don’t exist in isolation. There are so many individuals, organizations, pharmaceutical companies, government agencies, research institutions, and other advocates who must all work together to achieve the best possible outcomes for our community. We are committed to working with and partnering with these various entities. In addition, we are looking at novel approaches to the many complex problems that our children and families face on a daily basis. We’ve been asking families what their priorities are for improving the lives of their children and we’re taking that as a mandate to find solutions that will make a positive impact.
Funding strategy: We’re approaching our first anniversary. Initially, our funding strategy had been grassroots, and collaboration and co-funding of research projects with organizations that share some of our vision and goals. Once our research portfolio is sufficiently robust and successful, we can start looking to attract larger partners and donors. In the meantime, we partner with other stakeholders and pharma whenever possible.
What’s changing at your organization in the next year: Since we are still so young and new, we are in the phase of capacity building and laying the groundwork for the larger projects that we hope to tackle.
Management philosophy: Inclusivity is important to me. Trying to make sure we really meet the needs of our patient community, so it’s important to listen to all perspectives. At the end of the day, when decisions need to be made, I want to make sure we’ve given consideration and weight to all of the ideas in the room that have been presented. I also believe in taking calculated risks that have the potential for significant return on investment in terms of identifying important outcomes, specific treatments or therapies, or lead to new ideas that continue to push the CDKL5 research field further.
Guiding principles for running an effective organization: For me, it’s always keeping sight of my goals and putting the children and families living with CDKL5 front and center. Making sure every decision we make has their best interest in mind and that they are really at the heart of what we’re trying to accomplish.
Best way to keep your organization relevant: The best way to stay relevant is to never rest on what we’ve accomplished to date, and to revisit our mission and vision regularly to reflect on the best way to serve our community. We should always be thinking about new opportunities and collaborations, continue to network, and keep up to date with the latest developments in our field and other related areas that can influence our field. None of us exist in isolation. There’s so much to be learned from what others are doing as well.
Why people like working for you: I hope they like working for me, and with me. I’m honest and work really hard. I also lead by example and I fail openly, learning and sharing the lessons of the failures I’ve had along the way. I speak my mind with conviction and I strive to be open minded with others’ ideas and perspectives. I think another important point is that I’ve never asked someone to do a job I wasn’t first willing to do myself, so I have walked in many different shoes and experienced each level of running an organization.
Mentor: One of the most influential mentors in my life is Dr. David Goldberg, who is an attending physician I trained with during my internal medicine residency at Cook County Hospital. It was really his example of how to reach, touch, and care for the most vulnerable people during their darkest hours of suffering. His compassion and understanding for his patients, his willingness to not be judgmental and his kind and warm bedside manner all influenced my career and life. Dr. Goldberg also taught me that it’s ok to not always have the answers, but to not give up, either. We should work hard at finding the right answer, to always give one hundred percent to our patients, and show leadership and integrity in the process. His example has influenced me in every single way. I think, at least I hope, that I’m a better person, physician, mother, and friend because of him. He taught me to live in the moment and never lose sight of hope.
On the Job
What inspires you: My daughter Kiera inspires me. She has such courage and strength and love for life. And this leadership path is so personal for me because the stakes are incredibly high, and failing is not an option. Also, the fact that each one of us is capable of changing the world for the better, each in our own way and with our own strengths. I’ve always been an optimist and always think about possibilities. I don’t believe in limitations or boundaries when it comes to new ideas or discoveries. I think that’s how we advance as society and as mankind. I deeply and truly believe that anything is possible, but most of us tend to place unnecessary limitations on ourselves. To my core, I believe that each of us has something to offer, and we shouldn’t waste our talents. When I was 14, I came across a quote by Edward Everett Hale that has honestly been my guiding principle my entire life. It goes like this: “I am only one; but still I am one. I cannot do everything; but still I can do something; and because I cannot do everything, I will not refuse to do the something that I can do.”
What makes you hopeful: The unwavering vision of a better life for my daughter. There have been so many rapid advances in science and technology and drug development. This hope is tangible and just within reach. There are many people and organizations who are working together to bring positive changes to the CDKL5 community.
Best organization decision: Taking a risk and starting this new organization in the first place.
Hardest lesson learned: I wish I could say I’ve only had one hard lesson. I’ve had a lot in the past ten years of being in the rare disease world. I’d say one is that I have not always trusted my instincts and I should. Also, I can’t rest on my past achievements. Leadership is hard, and in this position of leadership and trust, I have to be willing to accept criticism and take responsibility for mistakes and judgement calls, not just accepting credit for when things go well.
Toughest organization decision: For me, it’s important to have a strong board of directors and making sure there’s diversity, but also trusting others to have the same passion and commitment I have for our community. We’ve had to make a few tough decisions on funding for research, and that is always a gamble as to which projects will yield meaningful results and outcomes. I’d also say one of my toughest decisions was knowing when to leave my previous organization and taking the risk of going in a different direction with this new organization.
Biggest missed opportunity: When I was at my previous organization, I’d say the biggest missed opportunity was not expanding our organization with an executive leadership team when we had the opportunity. I feel like this cost us a lot of time and momentum. I hope that in my new role at the CDKL5 Research Collaborative that I’ll learn from the past and have that same opportunity to grow and expand the leadership team.
Like best about the job: The chance to explore different areas of research that are new and cutting edge. To take chances knowing that potential outcomes could be life-changing for all of those living with CDKL5 disorder. I love meeting with families and enjoy the collaboration with scientists and clinicians to brainstorm new ideas and research directions.
Like least about the job: Fundraising and paperwork.
Pet peeve: I have a few. I don’t like when someone tells me I can’t, because of course I can, or at least I can try. I think anything is possible. I don’t like being told “no” or that something is impossible. I don’t like dishonesty. And I don’t like when someone can’t take responsibility for their decisions.
First choice for a new career: If I had it to do all over again, I’d like to be an astronaut. Before going to medical school, I was studying astronomy and astrophysics, but my math and physics skills turned out not to be that great. I’ve always enjoyed studying the cosmos. It would be a dream come true!
Most influential book: I’m a big fan of early American history. Washington: A Life and Alexander Hamilton by Ron Chernow, but some of the classics too like Things Fall Apart by Chinua Achebe and Les Misérables by Victor Hugo. The Emperor of All Maladies: A Biography of Cancer by Siddhartha Mukherjee has to be up there as well.
Favorite movie: La La Land and there’s an amazing foreign film called The Physician (2013) starring Ben Kingsley, based on a best-selling novel by Noah Gordon.
Favorite music: Classic rock and roll and Mozart’s Jupiter Symphony (symphony N0. 41).
Favorite food: Italian and Lebanese
Guilty pleasure: Chocolate
Favorite way to spend free time: Sleeping in when I’m able to and spending time with my daughter.
August 16, 2018
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