Rare Leader: Cyndi Frank, Co-President and Co-Founder, Gaucher Community Alliance

The Basics
Name: Cyndi Frank

Title: Co-president and co-founder

Organization: Gaucher Community Alliance

Social Media Links:

Disease focus: Gaucher disease is a rare, lysosomal storage disorder where an enzyme deficiency needed to break down lipids causes a build-up of metabolic waste in cells in the spleen, liver, and bone marrow. It is the most common genetic disease among Ashkenazi Jews, but it also affects all ethnicities. People with the disease often experience enlarged spleen, enlarged liver, severe bone pain, and fatigue along with other symptoms.

Headquarters: Pittsburgh, Pennsylvania

How did you become involved in rare disease: I was born into it since I have Gaucher disease. I was diagnosed when I was 13 in the 1970s and the following year we learned of the National Institutes of Health. I quickly became part of their natural history study and am proud to say I’m still part of that study. They’ve got a long patient history of someone pre-treatment and many years without treatment because treatment didn’t exist when I was diagnosed, and post-treatment on several different treatments that I’ve been on throughout the years. I was raised understanding that giving back in that way is important. It’s a rare disease and we need to be part of research to help advance it. Later in life, Roscoe Brady, who led the research at NIH, became a close family friend and mentor and helped me to get my first job working in the Gaucher community.  

Previous career: I’ve always worked in the nonprofit sector as a fundraiser and continue to do so outside of my work for Gaucher disease.

Education: B.A. in creative writing and linguistics from San Diego State University

The Organization
Organization’s mandate: Our mission is to support patients with Gaucher disease and their families through peer-to-peer support and education advocacy, patient and family resources, and networking.  Our slogan is for patients by patients. We are a true, peer-to-peer organization. Both I and our co-founder and co-president along with me, Aviva Rosenberg, have Gaucher disease.  We’re big believers in rallying the community to provide support for one another. We believe that increased collaboration and emotional support among patients can help each of us to cope better with our disease. That sort of collaboration and support helps alleviate some of the burden that’s associated with a disease like this.

Organization’s strategy: Our number one strategy is to be responsive. That doesn’t sound like the best way to run an organization, but we respond to patient needs. We listen to them, and we build programs around filling those unmet needs. By opening the lines of communication between the patient advocacy triangle including patient or patient organization, the medical providers and researchers, and industry, we work all three of these efforts together to really communicate and find what those unmet needs are.

Funding strategy: It’s difficult to raise money for a rare disease. The people who have the disease, where you would expect that community to raise money from, they’re tapped out. We are building up our individual fundraising, but a big part of funding is from partnering with industry and finding the best ways that they can support patients through their mission of being patient centric. We also do a lot of research and try to access all the available funding that’s out there with other foundations and other corporate outlets.

What’s changing at your organization in the next year: We’re a fairly new organization. We’re just a couple of years old and we’re growing. One of the things we’re doing this year is having an in-person patient conference for patients and family members. Through this conference, we will not only be able to provide resources for patients but have listening sessions so that we can hear firsthand what their needs are.

Management Style
Management philosophy: We all process information differently. When I’m working with others, I try to observe how they process information. When I interact with others, I try to read signs on how they process information and try to work with them in a way that’s most comfortable for them so that we’re comfortable working together. Then we can meet on a safe and neutral ground to get stuff done.

Guiding principles for running an effective organization: Our main principle is to be open to everything and be proactive. We do need to listen, and we do need to see what the needs are in the patient community, how it works, and then be proactive and come up with those ideas where we can make change and help where it’s needed most. We just try to get the job done the best we can and do our homework so that we can keep moving forward the best way possible.

Best way to keep your organization relevant: Listening to the patient community and responding to their needs.  That’s the main way we function. Listen and respond.

Why people like working with you: I’m an idea person. Everything is going on in my head at all times. They’re not always the best ideas, but some of them work. Aviva Rosenberg, our co-founder and co-president, with whom I started this organization—we’re like rice and beans. We’re the perfect protein. I come up with these ideas and she’s good at truing them down a little bit, and then we execute them together. It’s that way I said earlier of finding the best way to work with someone, and then it’s sympatico. I’m also a little bit of a goofball because I like to laugh a lot. Laughter helps every situation. I will always interject a little joke, or a little goofiness into everything.

Mentor: Roscoe Brady at the National Institutes of Health, who I called the godfather of Gaucher. He gave my family hope after I was diagnosed. He taught me how to live life with a rare disease pre-treatment and post-treatment. He introduced me to the National Gaucher Foundation when I wanted to make Gaucher disease my profession. He’s been a huge influence on my life.

On the Job
What inspires you: The goodness in human nature. People are inherently good. When I see the goodness in people and how they want to help the same way I do, it just keeps me going.

What makes you hopeful: I could say the same thing. Goodness in human nature, but in Gaucher disease and in rare disease, it’s the medical professionals and researchers who inspire me. I have Gaucher and it affects my family, so it’s a no brainer I’m going to do this sort of work, but when someone who is not affected dedicates their life to research and treating patients, my heart just swells whenever I think about it.

Best organization decision: Last year COVID hit, and people were scared. Gaucher patients didn’t understand how this was going to affect them. There wasn’t a lot of knowledge out there yet. We have compromised immune systems, and some of us don’t have spleens. We catch colds easily and then the cold turns out to last a month. We heard that about half of the patients in our community stopped getting their infusions—their bi-weekly, enzyme replacement therapy treatments—and that’s not good. We sat down and thought about what we could do. How can we help patients safely get their treatments? We went to industry, and we spoke to them about it. The company Takeda was incredibly responsive. They not only helped fund this, but they went out and found the PPE materials when they were impossible to buy online or in stores, so we could send COVID preparedness boxes to our patients and caregivers, which included new statistics on how COVID is affecting Gaucher patients. It was a huge success and hundreds of boxes were requested. We just had to listen and try to meet that immediate need.

Hardest lesson learned: We’re all vulnerable and when we’re vulnerable, we’re defensive. Not much good gets done when you’re being defensive. I’ve learned along the way to be humble in my approach toward life, toward work, and toward people. We always have more to learn. I’m an expert in my field. I’ve been doing this for a long time. At the same time, I’m not an expert because every time I talk to a patient or a doctor or someone in industry, I learn something new. I can then put that in my toolbox, and it makes me a little more knowledgeable.

Toughest organization decision: The toughest decision was actually starting this organization. Aviva and I realized early on we have experience and strengths that complement one another, so we did a lot of homework into whether the patient community needed the services we are equipped to give, and the more we asked, the more we realized it was the right thing to do. We then researched funding viability, and once we saw positive signs we structured our mission to not replace but complement what was already offered in our community.

Biggest missed opportunity: I don’t think I have one. I take all the opportunities.

Like best about the job: The patient community. I love these people. They’re my people. We’re one. Over the years, I’ve made some of the best friends I’ve ever had in the rare disease community. There’s incredibly giving, smart people in this community.

Like least about the job: Money – there’s never enough funds to do what we need to do.

Pet peeve: Lack of common respect. It drives me crazy when people don’t have respect for one another and try to understand what others are going through.

First choice for a new career: Retirement. I’m getting older and have been doing this a long time. I don’t see retirement anytime soon though.

Personal Taste
Most influential book: I always say it was books that I read at my most impressionistic age. I have my degree in creative writing, and I love reading. I love writing. I appreciate brilliant writing—books like Catcher in the Rye, The Great Gatsby, and Pincher Martin.

Favorite movie: ET. That movie evoked every single emotion I have.

Favorite music: Reggae, but I’m also a little bit stuck in the 1980s. I love Depeche Mode and the English Beat

Favorite food: Broccoli

Guilty pleasure: I do like a piece of dark chocolate in the afternoon.

Favorite way to spend free time: On the beach with a really good book.