Chasing the Cure
For the past few years I have been confronting parts of myself that remained dormant for too long. These parts of my personality have only recently come into play because I was obsessed with sustaining a “normal” life while living with a rare disease. It’s safe to say I was in denial because I didn’t want anything to change after my diagnosis. Now, here I am. Eight years and three degrees later, making a difference in one of the only ways I know how for the rare disease community. Research. I’m at the forefront of these diseases. Translating ideas into therapies, analyzing the statistics, generating data and validating those results in a preclinical setting.
You may be wondering how I can directly better the lives of patients and families with a rare disease in the research lab? Well I’m here to tell you, that’s the first place to start. The secret to a successful therapy is a patient advocate driving the research forward. The patient advocates are the key players, and this is the most valuable piece of advice I can offer.
Patients are beginning to engage in research and development (R&D) more than ever before. Advocates are taking things into their own hands, and they are finding their own research networks to develop therapies! Research is pushed forward because of the dedicated scientists in academia in combination with industry and patient advocates. This is the powerful team where innovation meets practicality. This is the collaboration we strive for.
Let’s take a step back. If you don’t understand how the R&D process works, let me lay it out for you. Academia is the driving force of research. Industry develops the therapy. Now, some pharmaceutical companies have their own R&D group which is spectacular, but academia is solely dedicated to research unlike industry. More often than not, research from an academic group is picked up by industry partner at a point when they are ready to translate that discovery into a therapy.
The other piece of the equation we haven’t discussed in detail is Industry. Industry is a business and so it must operate like one. I will say in the midst of doing business deals, industry doesn’t always understand the sense of urgency we feel as patient advocates. Now the question we need to ask ourselves is, what does industry need from the rare disease community to push the research and clinical development forward? The answer to that question -- strong patient engagement, a collaborative research network and a funding source, especially when academia is involved.
Pharmaceutical companies have been successful because they have put forth efforts to work on drugs that help a serious number of patients, not a select few. I’ve spoken with numerous drug companies some of whom refuse to develop a therapy for a rare disease with less than X number of patients. That’s their right, fine. I hope their conscious can live with that decision.
But, before thinking industry is the problem let’s assume industry is not the problem. Maybe, just maybe the numbers are the problem. I have also spoken with numerous drug companies that wish to pursue therapies for rare diseases, however, they have a problem finding the biggest bang for their buck. A legitimate concern. A one-time “curable” gene therapy treatment costs approximately two to three million dollars per patient! Whether you are aware of the drug development process or not, that two to three million is not outrageous. Research and development is expensive! It costs money to test a therapy in an animal model, to run toxicology reports, to conduct clinical trials etc. and industry deserves to make a reasonable profit.
Now industry, I’m going to point the finger at you. Maybe you can use that blockbuster drug of yours to develop therapies for some of these rare diseases. Just a thought.
Patient advocates, don’t be afraid to be that fierce warrior I know you are. For the first time, patient advocates have a seat at the table. Be bold, be brave and remember, if you find a why in everything you do, you will always be on the right path, which is why my path has led me here.
Jennifer has always had a deep passion for working with children who have special needs. She has spent years supporting patients and families with rare diseases through local and national non-profits. After receiving her masters in physiology she started working as a research scientist at Collaborations Pharmaceuticals Inc., pushing research initiatives forward for rare disease patients and families. Today, she continues to break down barriers and advocate for the patient voice within industry as well as initiate collaborations between key stakeholders all around the globe.