Rare Leader: Julie Breneiser, Executive Director, Gorlin Syndrome Alliance
May 13, 2021
Name: Julie Breneiser
Title: Executive director
Organization: Gorlin Syndrome Alliance
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Disease focus: Gorlin syndrome, also known as nevoid basal cell carcinoma syndrome, basal cell carcinoma nevus syndrome, Gorlin-Goltz syndrome, or basal cell nevus syndrome, is a rare genetic disorder. Gorlin syndrome can affect every organ system of the human body. People with Gorlin syndrome are at increased risk of developing basal cell carcinoma (BCC) skin cancers and non-cancerous tumors. Basal cell carcinomas are the most common manifestation of Gorlin syndrome. Considered a rare disease, there are approximately 11,000 people in the United States living with Gorlin syndrome. It affects males and females equally. It is caused by a mutation of one of the three genes that suppress the development of tumors in the body. Up to 70 percent of people with Gorlin syndrome have a family history of the disease. This group has inherited the genetic mutation that causes Gorlin syndrome from one of their parents. The other 30 percent of people with Gorlin syndrome have a new or “spontaneous” mutation of one these tumor suppressing genes. Spontaneous mutation happens when the body mistakenly changes how a gene functions resulting in chronic disease and other health problems like Gorlin syndrome. With proper management, people with Gorlin syndrome may live rich and full lives. But it usually comes with many burdens.
Headquarters: Reading, Pennsylvania
How did you become involved in rare disease: I was diagnosed with Gorlin syndrome when I was 12, though I had several manifestations since birth. Both of my children, who are now 28 and 29, are affected as well. Around 17 years ago, my son was diagnosed with a manifestation of the syndrome that I was unaware of until I confirmed the findings with the founding executive director of the Basal Cell Carcinoma Nevus Syndrome Life Support Network, the name of the organization at that time. During that phase of my life, I was a physician assistant, and thought if I became more involved, I could help my family and others. Soon after that, I was asked to join the Board of Directors and a few years later elected its president. In September of 2019, I moved into the role of executive director.
Previous career: Physician assistant for almost 20 years. I have also been full-time Mom caring and advocating for my two children with Gorlin Syndrome, and a preschool teacher of children with disabilities.
Education: B.A. in biology from Bowdoin College and a Bachelor of Medical Science from Emory University
Organization’s mandate: The mission of the Gorlin Syndrome Alliance is to thoughtfully support, comprehensively educate, and aggressively seek the best treatments and a cure for those affected by Gorlin syndrome.
Organization’s strategy: We have three essential pillars to our work. The first is to provide personal support to anyone who is affected, whether it is an individual or their loved ones. The second pillar of our work is to provide information to anybody who seeks it. A recent Facebook post was on point. It read, “When you have a rare disease, you face two battles. One being the disease itself, and the other, living in a world where so few people understand what you’re up against.” As with many rare diseases, physicians do not know about us. We often must provide information to them, as well as scientists, researchers, and pharmaceutical companies. That is our second pillar—to provide information.
Our third pillar is to support research for better treatments and ultimately a cure for Gorlin syndrome. We do this by working with pharmaceutical companies on developing and conducting clinical trials, and plan to offer financial support of research in the near future.
Funding strategy: Get it from wherever you can. We run the gamut from individual and grassroots fundraising to seeking grants, as well as collaboration agreements with pharmaceutical companies. Fundraising is the elephant in the room for any nonprofit, and our second biggest challenge, particularly because it is a poorly recognized rare disease. The biggest challenge is living with the syndrome.
What’s changing at your organization in the next year: There are several things that are happening that excite us a whole bunch and will have an impact for our people. The first is that in October, we will be conducting an Externally Led Patient-Focused Drug Development meeting with the FDA. Our goal will be to teach the FDA about Gorlin syndrome, its manifestations, and burdens, as well as our unmet needs. Out of this meeting a document called the “Voice of the Patient” will be created. This will become a part of the FDA and public record so that when researchers and pharma go to the FDA, a reference will be at hand allowing them to determine the validity and the need for whatever is being presented. It is a real challenge for the FDA, for any group, to understand the burdens and unmet needs of the rare disease community because each one is so drastically different.
Another event that is changing in our organization in the next year is that we have developed a new Medical and Scientific Advisory Committee. This 10-member group has more than 255 years of experience in clinical practice. That is a sum we are proud of. Our Medical and Scientific Advisory Committee will advise the Board of Directors and me on cutting-edge treatment methods, medical management, physician referrals, and pertinent information from medical journals that we will share on our website and with the Gorlin syndrome community.
The third upcoming activity is that there are clinical trials and treatment methods on the horizon that will positively impact the lives of the Gorlin syndrome community. This is the kind of change we all want to see.
Management philosophy: Think before you speak. Listen. When I was in the physician assistant program at Emory, one of the most important lessons I learned was, “To listen is to communicate.” Stay organized and current on things. I have a great group of people who work well together to help move us forward. This is a critical ingredient to our success.
Guiding principles for running an effective organization: Teamwork—that is the biggest thing. I use the resources of our knowledgeable, passionate individuals and delegate when appropriate. Prioritization is essential as well.
Best way to keep your organization relevant: First let me say that what my team and I do every day is to try to improve the quality and quantity of the lives of all affected with and by Gorlin syndrome. The rest of my answer ties to the previous question and relates to the use of the resources that are available. For us, this includes the physicians and individuals who are our key opinion leaders such as those on our Medical and Scientific Advisory Committee. It is also critical to listen to the people who are living with the disease, the affected individuals, and their loved ones. Without their input, we cannot be relevant. What I and my young adult children are living with now is totally different than that of the mom of a four-year-old child or teen with Gorlin syndrome. So, keeping up with everyone’s issues across the age span is important to staying relevant.
Why people like working with you: I have a small and mighty team of employees. Everyone knows their role, sees the need, and responds. I respect and trust them to do their work. Hopefully, they like working with me because I listen and value their input tremendously. Since we all work virtually, remotely, when we get together on Zoom or in person, we have fun too.
Mentor: My primary mentor is Jean Pickford, who has been a rare disease executive director for years and been in the non-profit world for even longer. She made tremendous progress for the GSA during her time as executive director and is now our associate director. I count on her quite a bit.
On the Job
What inspires you: What inspires me the most is hearing the stories that people share, even though some of these are tremendously difficult, but they push me forward to work on finding better treatments and a cure. The fortitude of our community is tremendous. Some fight many battles. This is very inspiring.
What makes you hopeful: There’s a lot of research into new potential treatments on the horizon. Twenty years ago, there were very few options for treatments out there compared to what is available today, and there are more coming. That gives me tremendous hope. The fact that we are doing the Externally Led Patient Focused Drug Development meeting also gives me hope because by educating the FDA on our syndrome, our needs, and its burdens, the chance of approval of new and better treatment options will be improved.
Best organization decision: Hiring the right people and having a strong team working in the areas that we need to have covered.
Hardest lesson learned: To not put too much hope into clinical trials. They are not all successful, and that can be a huge blow to affected individuals and the people who care about them.
Toughest organization decision: Making decisions on where and how to spend the funding we have is always a challenge. There are such a broad range of needs that prioritizing each is difficult.
Biggest missed opportunity: For the Gorlin Syndrome Alliance, missed opportunities occur due to lack of funding and bandwidth to support programs that might have an impact on our community. That has always been a challenge for us with a rare disease because there are lots of things we would like to do, but we just do not have the bandwidth or the funding to support them.
Like best about the job: Talking to affected people and their caregivers is the most rewarding part of the work for me. This is work with a purpose. There is nothing better.
Like least about the job: That comes out of what I like best; seeing and hearing about people’s suffering. This is always difficult.
Pet peeve: Passive aggressive actions and dishonesty
First choice for a new career: Retirement
Most influential book: Hawaii by James Michener, Roots by Alex Haley, and Pompeii by Robert Harris
Favorite movie: Sound of Music and more recently The Greatest Showman. In The Greatest Showman there are two tremendous songs, “This is Me” and “Come Alive”. One of the lines in “Come Alive” is “Cause you’re dreaming with your eyes wide open.” At times when I look at some of the future opportunities for people with Gorlin syndrome, I feel like I’m living in that dream because the potential for better treatments is so tremendous.
Favorite music: Anything by James Taylor
Favorite food: Ice cream and cookies
Guilty pleasure: Same as favorite food
Favorite way to spend free time: Relaxing and working out—two ends of the spectrum.
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