Can Patients and Families Really Drive Therapy Development?

The therapy development process is a marathon, not a sprint. But unlike a marathon, the road any treatment must travel from the laboratory to the marketplace is filled with roadblocks. It’s often nonlinear, with starts and stops, backtracking and reworking.

Because science, like life, can be unpredictable.

The road to life-saving or life-altering treatments for even common and well-funded conditions, from breast cancer to hypertension, has always been formidable. So, when my family resolved to fight for my sister Taylor’s life after she was diagnosed with infantile Batten disease (CLN1 disease), we took on a mission so difficult that some people called it impossible.

Who could blame them? This was, after all, 2006 — the Dark Ages in terms of CLN1 disease research. Not many families or organizations were fundraising for this research. When a fledgling group called Taylor’s Tale raised $69,000 for the cause in its first four months on the job, our success shocked much of the Batten disease community. Yet, I felt disappointed because we hadn’t done more.

We kept working, fueled by a deep-rooted sense of belief that bordered on blind faith. In those days, Taylor kept the Batten disease monster mostly at bay. I saw her courage and resilience and a slow-moving disease course, and I felt sure we could save her if we worked quickly.

Thirteen long years later, we’re still in the race, even though we lost Taylor in 2018. The landscape looks vastly different today than it did when Batten disease barged into our world. Numerous clinical trials are upcoming or in progress, and we even have an FDA-approved treatment for CLN2 disease: Brineura (cerliponase alfa), an enzyme replacement therapy. Companies like Abeona Therapeutics, BioMarin, and Neurogene are putting their stake in the ground and investing resources in ultra-rare diseases.

One thing hasn’t changed: the crucial role patients, their families, and patient advocates play in moving science forward. Even if they only fund a small percentage of the total cost of developing a therapy, patients can and must continue to be catalysts. The first mile of a marathon may be the most important, and even the best scientists and companies can’t run a great race without us, the wind at their backs and their reason for being.

Want to learn how Taylor’s Tale and other small organizations have made a difference in rare disease therapy development? Need simple but powerful pointers that can help turn your motivation and passion into progress? Join me at next month’s Global Genes RARE Patient Advocacy Summit. Together with my mom, Taylor’s Tale President Sharon King, and Steven Gray, PhD, gene therapy expert and serial creator of hope, I’ll share a full overview of the early stages of therapy development and strategies anyone can use to help push their disease community forward.

Can patients and families really drive therapy development? The answer is yes. Thanks for your commitment to creating hope, and best of luck in this race.

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Note: Batten Disease News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website. The opinions expressed in this column are not those of Batten Disease News or its parent company, Bionews Services, and are intended to spark discussion about issues pertaining to Batten disease.