Rare Leader: Lisa Manaster, President, CACNA1A Foundation
February 3, 2022
Name: Lisa Manaster
Organization: CACNA1A Foundation
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Disease focus: CACNA1A is a rare genetic disease caused by a mutation on the CACNA1A gene. The gene is located on the 19th chromosome and controls the opening and closing of the calcium channel in the brain. In the simplest terms, having too much or too little calcium flowing affects the transmission of signals in neurons and causes a spectrum of neurodevelopmental disorders, including neurodegenerative cerebellar atrophy. The three main symptoms are epilepsy, including severe/medication resistant developmental and epileptic encephalopathies, ataxia, and hemiplegic migraines. However, our patients also present with eye movement disorders, global developmental delays, intellectual disability, and speech/language issues. There is also a relationship to autism and sleep issues. There are no specific treatment options.
Headquarters: Norwalk, Connecticut
How did you become involved in rare disease: We noticed global developmental delays in my daughter, Emily, when she was an infant. She had her first seizure at eight months old. We traveled around the country to see different doctors, but nobody could give us an answer. At one point, I was told by a renowned pediatric neurologist to “Just go home and love her.” It wasn’t until she was 20 years old that we finally received a diagnosis through whole-exome sequencing. There was so little information available I wasn’t sure what the diagnosis meant for her. I started reading everything I could. I immersed myself in the literature, which is funny because science was always my worst subject. When I learned that this disease has a neurodegenerative component related to cerebellar atrophy, I freaked out. I met another mom through Facebook, and together, we started the foundation simply because there was no foundation.
Previous career: Special education teacher K-6
Education: A.B. in history from Cornell University, Master’s in guidance and rehabilitation (Special Education) from Teachers College at Columbia University. Connecticut Teaching certification through Central Connecticut University, and a LEND Fellow in neurodevelopmental disabilities at New York Medical College.
Organization’s mission: Our mission is to find specific treatment options and a cure for CACNA1A patients by building a collaborative network of patients, families, clinicians, and scientists that will work together to raise awareness and accelerate the understanding, diagnosis, and treatment of CACNA1A-linked diseases. We have learned that there’s much basic science on this gene because it’s been studied since 1997, but there’s very little translational work. Our goal is to bring the scientists together and change that.
Organization’s strategy: Our short-term strategy is to become clinical trial ready. When we first launched the organization, one of the first things we did was reach out to pharma to set up meetings. They all asked the same question: How many patients are there? We couldn’t answer that and quickly realized that there were many gaps to fill. We’re developing assets to better understand our disease. We now have a natural history study at Columbia University in Wendy Chung’s lab. We’ve begun a biorepository, are developing iPSC lines, and are investing in mouse models that align with human variants. We have a mandate to share all our resources, making them accessible to anyone who wants to study them. Additionally, we raise awareness of CACNA1A-related diseases and support our families by providing educational opportunities so they can be better informed. We held our first family and scientific conference last year. We regularly host webinars on topics that are of interest to our families. We’ve found that many physicians know little about the gene, so we are producing materials for parents to bring to them. For example, one of our phenotypes is hemiplegic migraine, a stroke-like episode where a child temporarily loses the use of one side of his or her body. A parent will take his/her child to the ER and precious time is lost while a stroke is ruled out. Chances are, if you have CACNA1A, you need specific rescue meds and there’s a delay in getting them. We’re hoping to change that paradigm through awareness and education.
Funding strategy: We currently rely on peer-to-peer fundraising. When we launched, the bulk of our fundraising came from board connections. We all have an amazing and supportive network of friends and family. It took some time, but the CACNA1A community—parents, caregivers, patients, and their connections—has become very supportive. We had a very successful run/walk/roll event last June and our giving Tuesday campaign far exceeded our expectations. Our goal for 2022 is to develop industry relationships and to apply for more grant funding. Finally, our board is comprised of volunteers, and we keep expenses to an absolute minimum. It’s important to us that our donors know that 100 percent of their money goes to research.
What’s changing at your organization in the next year: We received a Rare As One grant from the Chan Zuckerberg initiative this year, which will be transformative for us. These funds will be used to build our capacity. We’re currently looking to hire a scientific director to help us develop and implement research initiatives and programs, such as researcher round tables, and facilitate collaborative opportunities with academic institutions and biopharma. We’re also excited about an open science, global online portal that we’re developing with the Lal Lab at the Cleveland Clinic that will enable aggregation of clinical, genetic, and molecular data for all of the known CACNA1A genetic variants, of which there are currently more than 1500, and will link researchers, clinicians, and families worldwide.
Management philosophy: I’d like to say I lead by example. I’m very hands-on and there’s nothing I won’t do. Finding a cure is what drives me. Currently, our board is comprised of moms who juggle a lot of responsibilities on top of having children with special healthcare needs. Everyone who works for the organization knows that while there is a sense of urgency to keep going, our own families must be our first priority.
Guiding principles for running an effective organization: I keep our vision, which is a world free of the debilitating effects of CACNA1A related disorders, in mind at all times. I also think we’re good stewards of our funds and we make thoughtful decisions.
Best way to keep your organization relevant: It’s imperative to be an organization that responds to the patient community because that’s who we’re working for. We have monthly Zoom meetups to build community and keep a pulse on our families’ needs so we can respond to them.
Why people like working with you: I think they respect my level of commitment to the organization and my passion. I started this organization initially to help improve my own daughter’s quality of life, but we are working hard every day to make a difference for all of those with this disease.
Mentor: I co-founded the organization in March 2020 and had zero experience in rare diseases. There are so many inspiring leaders that I’ve met on this journey and whose shoulders I’m standing on. I would just say that I hope to make as much of a difference for our patients as they have made for their communities. When we first started the organization, I reached out to so many people for their advice and support – patient advocacy group leaders such as Binah Shah, Luke Rosen, Tracy Dixon Salazar, Leah Schust, Bo Bigelow, Mike Graglia—I can go on. Their advice, support, and friendship have been invaluable and I’m so grateful.
On the Job
What inspires you: First and foremost, it’s my daughter, Emily, who has CACNA1A mutation. She’s the hardest working person I know. Her life is not easy, but she’s come so far, and she does everything with a sense of humor. And then I would say our CACNA1A families inspire me—their stories, challenges, and the latest medical crises their children face. It’s daunting, but they reach out for help from the community. They ask questions and they never give up hope. They have so much on their plates, yet they never give up on their kids. That’s inspiring and keeps me going.
What makes you hopeful: Science is changing rapidly, and my hope is that as our researchers begin to collaborate, and they are; they will solve some important questions, move the needle forward, and find a cure for our kids.
Best organization decision: A couple come to mind: First, we are changing the landscape for our disease, so I would say taking the leap to start the organization is first. Inviting Sunitha Malepati, who is now our VP, to join me in the day to day running of the organization is next. She left a law career to do this, and I am thankful for her partnership every day.
Hardest lesson learned: I’m not very patient and you have to be in this field. I’m learning to not let my anxiety about finding a cure keep me up at night. Translational science takes time.
Toughest organization decision: Where to spend our money. Last year, we put out a request for proposals and received eight interesting applications. We need to stay focused on the science that will get us to the clinic.
Biggest missed opportunity: Not starting the organization sooner. My daughter received her diagnosis at the end of 2017, after a 20-year-long diagnostic journey. Soon after, my husband and I were invited to a dinner where I met some parents who were in the process of starting rare disease organizations for their children. I had just started a new job working as a special educator in my local school district and had a caseload of 32 very high-need students in a K through five school. I was torn. I wanted to do what they were doing. In retrospect, it seems like the choice should have been a no-brainer, but I had to fulfill that commitment.
Like best about the job: Working with such passionate people who have the same goal–to find a cure for their children. I don’t have to make any excuses. They get me and they’re my tribe.
Like least about the job: There’s always something to do yet you know you can’t do it all. It can be very overwhelming, especially for a layperson who doesn’t necessarily understand the science.
Pet peeve: I would say a pet peeve for me is people who don’t contribute but have an opinion on everything.
First choice for a new career: After college, I went to culinary school because I love to cook. I’d love to own a dog-friendly bed and breakfast. It would have a big, fenced yard for all the dogs and I would cook breakfast and dessert. Someone else can do the rest.
Most influential book: My favorite genre is historical fiction. However, Learning disabilities and Life Stories by Pano Rodis, Andrew Garrod, et al., a compilation of narratives about students struggling with learning differences, was pivotal in my becoming a special education teacher.
Favorite movie: The Sound of Music and Pretty Women
Favorite music: I like classic rock and my favorite song is Jack and Dianne by John Mellencamp
Favorite food: Crispy thin crust pizza
Guilty pleasure: Binging mindless shows on Netflix
Favorite way to spend free time: Working out, hanging out with my adult kids, and going for a walk with my dogs.
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