I favor running analogies — even the name of this column pays tribute to the sport. But I’m not the first patient advocate to evoke that ancient sport of quicker-than-average terrestrial locomotion. After all, we are racing to treatments because time is critical.
But in the fight against a rare condition like Batten disease, success involves much more than speed. You may be fast, but have you studied the course? Do you know its twists and turns? Do you have a team and support crew, or are you competing alone? Are you ready to take on unexpected obstacles?
Do you have what it takes?
Therapy development isn’t for the faint of heart, but patients can and absolutely do make an impact on potentially life-saving treatments and the science and regulatory issues involved. Last month, I joined my mom, Taylor’s Tale President Sharon King, and Steven Gray, PhD, associate professor at University of Texas Southwestern Medical Center, onstage at the Global Genes RARE Patient Advocacy Summit to discuss that topic.
If you didn’t make it to San Diego for the summit this year, I hope you had a chance to tune in to the livestream. If you didn’t, or if you’d like a recap, following are nine things that we shared about pushing promising work toward the finish line.
Therapy development: 9 things to know
- You don’t have to raise millions of dollars. Every disease is different, but if, for example, you can fund a mouse model for a few hundred thousand, a clinical-stage company might pick it up from there.
- The patient community’s pockets are rarely deep enough to produce an approved medication ready for market and widespread use, but patients and advocates can act as crucial catalysts. Consider that $300,000 may represent less than 1 percent of the total needed to get a medication approved, but the research to produce it may never have happened without that first $300,000 raised by patients.
- Lean on what we already know about the disease. In the case of CLN1 disease, we know the gene that is responsible and have a mouse model. Fortunately, many rare diseases are caused by a single defective gene — which, in theory, makes the cause of the disease easier to pinpoint.
- If you’re ready to roll up your sleeves and get to work, make sure you team up with a lab that has a track record of solid, translational research. If the work isn’t performed to a certain standard, it may never attract a commercial partner with the resources to take it to a clinic.
- When they are evaluating projects, commercial partners look for things like preserved intellectual property, a patient registry, and a natural history study.
- An organized patient community for your disease — or a particular form of the disease — will help.
- By supporting work in the fight against your own disease, especially platform technologies like gene therapy, you can pay it forward and help another disease community. For example, Taylor’s Tale benefited from Dr. Gray’s research on giant axonal neuropathy, another extremely rare disease that mostly affects children. This reduced the cost and duration of his work on Batten disease.
- Times have changed since my sister, Taylor, was diagnosed with Batten disease in 2006. We’re in the middle of a rare disease revolution, where companies are committed to developing treatments for ultra-rare diseases. We still have work to do, but rare disease has a genuine business model now.
- In the race to come up with a treatment for a rare disease — or any disease — there’s more than just one penultimate finish line. As a patient community, we have to keep running and working toward more and better treatments. We didn’t stop after one cholesterol medication, did we?
Like a marathon, the race to find treatments and cures isn’t easy. Few people see the long hours in the lab or the thousands of experiments that don’t produce a single breakthrough or correct answer. Miracles happen in science, but results come with a lot of hard work and some luck.
If you want to see a treatment for you or someone you love, you have to accept that it won’t be easy. This race is hard. You’ll feel winded. You’ll get injured. You’ll crave water stops. You’ll get passed by someone running faster than you. You’ll pass someone who doesn’t want it as much as you do.
In his new book “Chasing My Cure,” my friend, David Fajgenbaum, writes, “Fear disintegrates. Doubt disorganizes. Hope clears the way, pushes out the horizon, and gives us space to build structures.”
Here’s what I think David meant by that:
Being invincible in hope means having the courage and the will to take action. You can’t trust and wait. You can’t assume that someone else will swoop in to save the day. That’s not what hope means.
Instead, you have to look inward. You have to take an active role in transforming hope into reality. That’s hope in action.
That’s how you change the world.
“Never doubt that a small group of thoughtful, committed citizens can change the world. Indeed, it is the only thing that ever has.” —Margaret Mead
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.