PA Rare Disease Leader Profile: Leah Schust Myers of FamilieSCN2A Foundation

This is the seventh in a series of profiles of the leaders of rare disease organizations based in Pennsylvania.

Mission of the Organization: Our vision is to find effective treatments and a cure for SCN2A related disorders.
Our mission is to improve the lives of those affected by SCN2A related disorders through research, public awareness, family support and patient advocacy.

Rare Disease(s) Covered by the Organization: SCN2A-related disorders (Autism, Epilepsy, Intellectual Disability caused by a change in the SCN2A gene)

Your Role at the Organization: Founder, Executive Director and Chair of Research

How You Got Involved with the Organization: My son, Ben, started having seizures at 13 months. It took another two years to find the cause. When we received the diagnosis, SCN2A-related disorders were not being researched, no support groups existed and there were no other parents to connect with. Doing nothing was not an option, so we built a home for families to gather and learn from one another. We inspired researchers and began to fundraise to support their work.

What You Are Most Proud of or What You Are Excited About Doing Next: I am most proud of the team we have all fighting for the same vision. Each member brings their own unique perspective, expertise and experience which ensures the Foundation acts in a diverse and inclusive manner in everything we do.
Our Board of Directors includes eight parents and two professionals and our M/SAB consists of 13 of the most talented professionals I have the pleasure to know. In addition to the board members, we have an army of volunteers who share the same passion and who have stood up to fight back against this disease that is stealing our babies.

What You Find Most Rewarding in Your Role: The most rewarding part of this position is when I learn that the Foundation’s actions have had a direct, positive impact on a family. Most recently, a family who had just relocated to the USA from Chile was in a desperate situation. Their daughter was running low on her seizure medications and they could not find a neurologist to see them until the Spring! Children can’t just stop taking their medications. This was a life or death situation. They reached out to the Foundation and the community and I was able to pull some strings and get them seen at a leading institution the following day.

What You Find Most Challenging in Your Role: The speed of science, although MUCH faster now than when we first started eight years ago, is extremely difficult to bear. Our children need a cure now. With each child that passes away, my heart breaks a little more as I feel that we have failed them. The reality is that drug discovery, especially gene therapy, takes many years. It is exciting, yet challenging to see advancements in other diseases. We know our time is coming very soon, we just hope to keep our babies healthy enough until a cure is here.

Resources You Recommend to Other Rare Disease Advocates: Other parents! Every single thing I know, I learned from another parent. Stand on the shoulders of those who have walked this path as they have cleared it for you. Do your part to make the path even smoother for those behind you. A win for one disease is a win for all of us.

Any Advice You’d Like to Share with the Rare Disease Community in PA: The best advice I can give is to spend time establishing your organization’s core structure including your mission and values. This will then serve as a pillar of who you are and you can hold everyone and everything to the same caliber. In the rare disease space, the leaders are often affected patients or family members. When faced with difficult decisions, having a strong mission will guide you to the most objective resolution.

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