Rare Leader: E. Gay Grossman, Founder and Patient Advocate, ADCY5.org

The Basics
Name: E. Gay Grossman

Title: Founder and Patient Advocate

Organization: ADCY5.org

Disease focus:  ADCY5-related Dyskinesia is a rare movement disorder that is caused by a mutation in the ADCY5 gene. It is characterized by involuntary movements, chorea, dystonia, athetosis, ballism, hypotonia, and sleep disruption. The increased use of genome sequencing has resulted in more individuals being diagnosed with this condition. There is no cure for the condition and treatment protocols are still under discussion. It is often misdiagnosed as cerebral palsy, mitochondrial disease, epilepsy, and other movement disorders.

Headquarters: San Diego, California

How did you become involved in rare disease:  Our 21-year-old daughter was the second one in the world diagnosed with a mutation on the ADCY5 gene in 2013.

Previous career:  Before my daughter was born, my previous career was in healthcare and pharma. I have worked with a health system analytics company, and later with GlaxoSmithKline doing sales, marketing, and training.

Education: B.A. in English (concentration in writing) and B.A. Economics (concentration in marketing) from Ohio Wesleyan University.

The Organization
Organization’s mandate: Our main focus is coming up with a treatment or a cure, but we also want to be able to help the families who are out there and don’t have any other means of support. Since ADCY5-related Dyskinesia is a serious ultra-rare condition with under 500 known cases, generating research interest and funding to find a treatment or cure is critical.

Organization’s strategy:  ADCY5.org was formed in June 2015 to support the rare disease patient community affected by ADCY5-related Dyskinesia. It is currently the only support network available to this group of rare disease patients affected by an ADCY5 gene mutation. The overall goals and activities of ADCY5.org are to identify and communicate with patients and their families affected by ADCY5 gene mutations, identify and communicate with any researcher or clinician in the world who works in fields encompassing ADCY5 gene mutations, and drive novel research projects. As a neutral party, the organization looks to support researchers and clinicians who leverage established clinical science best practices and open data principals.

Funding strategy: We have been fortunate to secure $2.5 million of in-kind donations related to research. In addition to other successes, this has resulted in a break-through induced pluripotent stem cell project with Rare Science and the California Institute for Regenerative Medicine. We are working on concrete, big impact, projects with defined goals, where we are going to pursue funding based on a per project basis through grants and private funding.

What’s changing at your organization in the next year: This year we will focus on a natural history study, drug screening using differentiated iPSC’s, and cell therapy.

Management Style
Management philosophy: I believe in including everyone on the team because everyone has something to contribute. I’m not a micromanager. I think it’s important to get ideas and input from each person so that the team grows as a whole.

Guiding principles for running an effective organization: I surround myself with the best of the best. I have people on my team who are forward thinking, who are doers, and have like mindsets.

Best way to keep your organization relevant: We spend a lot of time at scientific and rare disease conferences. We make sure that we are present at those conferences, that we know who’s working on science related to ADCY5, and that they know us. We keep up on what’s happening in the biotech industry.

Why people like working for you: They know I’m straightforward and dependable. They can trust that when I say I’m going to do something, I do it.

Mentor: I’m lucky enough to have different mentors in my life depending on the situation.

On the Job
What inspires you: The mother who’s up all night with her kid, who is living with the symptoms of ADCY5-related Dyskinesia, and might not have a diagnosis yet.

What makes you hopeful: The science that we have available today and what’s coming.

Best organization decision: To start the organization and convince the stakeholders to come together.

Hardest lesson learned: That we, as families, need to be persistent to advance the cause for all.

Toughest organization decision: We don’t have the money to fund all the things we want to do and the conferences we want to attend. We have to prioritize, which is always difficult when there is so much to do, but we are persistent, analytical, and we make things work.

Biggest missed opportunity: I’d like to think we haven’t missed an opportunity. Anybody we meet that we think could help us, we make sure we talk with them. My personal philosophy is that you have to do one thing a day to move it forward. We can’t go to bed at night thinking we haven’t done everything we could do. We have to leave no stone unturned. That’s how I was for the 15 years trying to find out what was causing challenges for my daughter. Every day I would do at least something to move it forward.

Like best about the job: Meeting new families.

Like least about the job: Knowing the long road ahead for young families, but I’m hoping to abbreviate that.

Pet peeve: Lack of follow-up. I don’t like when someone tells me they are going to do something, and they don’t do it.

First choice for a new career: I’d like to work with a company in Patient Advocacy to help them connect with patient groups, helping their clinical trials be as successful as possible.

Personal Taste
Most influential book: A Gift from the Sea by Anne Morrow Lindbergh. She was Charles Lindbergh’s wife. They lost a child around the age of one. It’s a little book about the sea and sea shells, but she talks about the importance of being true to yourself, friendships, and difficulties in life and how to have strength to get through them.

Favorite movie: The Sound of Music. We met Julie Andrews in December as part of my daughter’s Make-a-Wish.

Favorite music: Barenaked Ladies and The B52s

Favorite food: I like entertaining in my home, having small dinner parties with a few special friends. It doesn’t matter what I’m eating as long as I’m with my friends.

Guilty pleasure: I’d like to spend more time under an umbrella with my toes in the sand.

Favorite way to spend free time: I’m a big dog person, but I’m obsessed with my daughter’s little, white maltipoo. Once a year I take a trip with my mom. This year we’ll go to Japan. I’m looking forward to the day when we take my daughter with us.

April 6, 2018