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Sharon F. Terry
CEO, Genetic Alliance and CEO, PXE International
I write as a mother of two children with a rare disease and as the founder of a disease advocacy organization. In response to this question, I ask another: “Were we to begin searching for solutions to the suffering caused by rare diseases today, what would we do?” We would not build hundreds of organizations, each re-inventing the wheel. We would smartly use the tools at hand to build shared infrastructure, and focus our innovation and creativity on unique disease specific elements of our endeavors. This means that we would have less concern about the success of our own separate organizations. To stay focused we would create a north star based on this question: “what will enable all boats to float?” In the prior three decades, when most of our foundations were established, we believed that the best means to the result of alleviating suffering for our families and those who suffer from our condition of interest was to create separate systems. We believed building organizations that know how to manipulate the current system would give us what we needed. Those silos are now an obstacle to our goal.
Now, we must discover how to vastly accelerate solutions and do so in a terribly broken system. Neither healthcare nor research is ‘well’. Both have proven themselves flawed in their current form. No further experimentation is needed. Now the bold and risky move (and we who were pioneers and founded advocacy organizations are good at bold and risk, yes?) is to create the new system that will alleviate suffering.
Practically, this means shared infrastructure such as registries, biobanks, assay development, and other tools. It means sharing everything we can about the research and services in which we engage (especially our mistakes and failures), and using those resources across all conditions. It means recognizing that pathways and systems biology are the places we congregate, and not around body geography (heart, lung, muscles, eyes). It means collaborating, and not competing. It means the ‘brand’ we have built becomes only a part of a larger structure.
I do not mean that we should dissolve into one another. I mean that we should only protect what is absolutely essential, and share the rest. I know that this will be very painful to most of us. I know that giving up a well tread path, and common ways of behaving, are very hard sacrifices. I know that it is risky to give up a process that works ~10% of the time, for something that is untested. But I also know that we cannot continue business as usual. We ask biotech and pharmaceutical companies to share more, to change their cultures, and to create new systems. We must ask ourselves the same. We must ask ‘what is it that we fear’, and then go straight into that fear as the instrument of our success.
Beyond the priceless benefit of human life, there is a huge economic and social value in treating these diseases.
We see studies on the cost of a case of ALS, but any caregiver will tell you they’re not even close. Crowdsource the concept sometime and you’ll learn of the gas-guzzling, money-pit vans you’re forced to use, the lost job opportunities for caregivers, the health impact on the whole family (when was the last time they took time to go to the dentist?), missed educational opportunities, the therapy for the kids… It goes on and on. A treatment will have real dollar and social value far beyond what most people perceive from medical bills and wheelchair invoices.
Does the “rare” word hold us back?
Does the “rare” word remove a sense of urgency since the disease appears to affect so few? Is the definition of a “rare” disease flawed? People who are slapped with an ALS diagnosis soon find friends, neighbors, and acquaintances with all kinds of connections to the disease. Dead loved ones don’t count in that “rare” designation, yet those are real people who, with an effective treatment, would be among us today. Treat the “rare” diseases that are quickly fatal, and the market for the drug will grow very quickly. It will be good business. The disease won’t be “rare” any longer.
It’s not a winner-take-all contest for drug developers.
I’m not a scientist, but my every instinct tells me that rare neuroscience diseases are well worth an investment because it’s going to take a toolbox of treatments to deal with them effectively. ALS is a cunning, complicated disease. One size doesn’t fit all. Please keep circling the problems from many angles! Patients will need multiple options to beat these beasts.
Are some of the nastiest diseases in this category an opportunity to streamline drug development?
Why not use a disease like ALS to be a proving ground for new concepts in testing and bringing treatments to market? It would benefit many diseases. Risk is something that most people with ALS have tossed to the wind. They also understand urgency and want to make a contribution in the time they have left. They know many barriers between them and a treatment. Their bad break could be an opportunity to try new processes that improve our old paradigms for drug testing and approval.
Program Coordinator, Uplifting Athletes
With more than 30 million in the United States alone, rare disease patients are not nearly as isolated as they may often feel upon diagnosis. Through my own experiences with rare disease patients as an employee of Uplifting Athletes, a national non-profit that aligns college football with the fight against rare diseases, I have seen time and time again that patients and their families believe they are completely alone and cornered in seemingly unwinnable fight. As rare disease advocates, we all know that is not true. Each year the rare disease community continues to grow and develop, and moving forward a vital priority is to connect the dots and pull together into a unified advocacy front.
I was first exposed to the world of rare diseases when my college football team adopted a little boy with an extremely rare form of pediatric brain cancer. Ty was one of maybe a dozen children in the United States affected by his rare disease and without any support groups on the scale of more common diseases or any treatment options, Ty’s family felt utterly alone. We welcomed Ty into our football family, and surrounded him with a hundred brothers and teammates who were all extremely concerned and invested in his health and happiness. He went from being one of ten, to one of a hundred. We started a chapter of Uplifting Athletes at my University to raise money for Ty’s rare disease and immediately realized the power of a unified group effort to tackle rare diseases. After Ty passed away, we held a huge fundraiser during a home football game in his honor, extending his influence to thousands of other people.
That represents the biggest shared priority and interest of all of millions of Americans diagnosed with rare diseases and the countless others indirectly affected by them. This fight truly is a team effort. A vast network of support systems and programs like this chat itself serve exclusively to care for a group of people that feels largely neglected. Scores of organizations exists solely for rare diseases but because of the lack of a cohesive voice they are often isolated and falter, mimicking the fate that millions of patients experience with their own fights against rare diseases. Together, there is a call to action by which the different rare disease patients and the organizations dedicated to fighting for them should strive to be part of a more united effort against the rare disease epidemic.
The rare disease community is fractured, but through uniting the different pockets of rare diseases across the country we can start to glue these pieces together and ultimately realize we are all part of the same team with a collective tangible goal of unifying the rare disease community. A diagnosis of a rare disease shouldn’t alienate a patient and their family, but rather introduce them into a network of millions of other patients and those fighting for them.
Director, Public Affairs & New Media, ARTBA
As a parent of a five-year old with a rare and degenerative neurological disease (first identified in 2007 and fewer than 100 people known to be diagnosed) I keep hope in my heart that we will one day find a cure for her illness. One of our main priorities, and I imagine it’s similar to other families in our situation, is to stay informed of research and possible clinical trials as best we can. We don’t want to miss that opportunity if, God willing, it one day presents itself.
As a mother on mission, Google has become my best friend. I’ve learned a lot since her diagnosis two years ago. The Internet is filled with sick kids just like mine and determined parents just like me - all looking for answers to complicated questions about diseases that still remain somewhat of a mystery. Some of the most practical advice and information can come from other parents, but my husband and I have also learned that the world is full of talented researchers and scientists making great strides and new discoveries each day. We feel blessed to be living in a time of such great discovery and information sharing. We hope our government will support these efforts and encourage innovation.
Another priority for us has been to try to understand and make a connection with similar, more common diseases in the hopes that the science community may one day piggy-back of their success to help our daughter, whose Leukodystrophy shares commonalities with MS and Parkinson’s.
While the rare disease community is in fact “diverse,” at our core, we are all the same. We are all moms, dads, daughters, sons, aunts and uncles who are all desperately looking for the same thing – a cure.
President, Canadian Organization for Rare Disorders
As the President of the Canadian Organization for Rare DIsorders, the mother and wife of children and spouse with different rare conditions), I appreciate on many levels the invaluable benefits of the US Orphan Drug Act and also the hope for all those who still don't have a therapy. Sadly, for those patients for whom there is a new therapy, the common underlying issue is the inability to get access. In Canada, as in many countries, after a drug has been discovered, tested, and approved for safety and efficacy, it undergoes a "health technology assessment" to determine whether the drug should be funded, for which patients, under what conditions, and at what price. There is not enough space here to detail why traditional HTA analyses are not appropriate to the review of rare disease drugs; it is sufficient to say that in 50% or more of the cases, the HTA analyses conclude that the drugs should not be funded. Thus a second underlying commonality among rare disease patients is advocacy for access, through whatever means are available. A recent study showed that the most common media story about healthcare is the lack of access to a rare disease treatment. For patients, the dream represented by a drug discovery, the hope engendered by participation in a clinical trial, the anticipation as the drug passes through the regulatory approval comes crashing down by a drug plan, public or private, that decides "no, the drug doesn't meet our criteria for funding." It is not unusual for patients to wait several years to get access, if at all, to a drug that has already been approved by the FDA or other regulatory body. The time is long past due for us to design and implement a patient access framework that mirrors the regulatory framework, that starts with the premise that regulatory approval means the drug should be available to all appropriate patients as soon as possible. There are some enlightened processes that propose developing a plan for access at the same time as the clinical trials are being designed with patient registries including on-going monitoring, data analysis, and updating of the approval. All that is needed is for all stakeholders to agree that the first step is the development of the therapies but the ultimate goal is for patients to get access.
Advocate, SavingCase blogger
Our shared priorities include (1) preserving the Orphan Drug Act infrastructure, (2) further developing the FDASIA provisions that contemplate an appropriate risk analysis in serious rare diseases, (3) creating a broader understanding of orphan drug pricing decisions such that we preserve the incentives for drug development for ultra small populations, and (4) finding appropriate ways for pharma and rare disease patients and organizations to work together to make drug development and clinical trials as effective and efficient as possible. My son suffers from MPS II and has been able to participate in an amazing clinical trial that will likely change the course of this disease. But meanwhile, I am watching his friends slowly slip away toward death because of a system deficient in the above ways - specifically, an FDA that does not appreciate an appropriate risk profile for progressive terminal childhood diseases and pharma companies constrained both by FDA practices and by their own failure to mine the insights of the patient populations they serve.
Peter L. Saltonstall
President and CEO, NORD
The evolving role of patients and patient organizations is potentially very important to all partners within the rare disease community. No one knows a disease as well as the patients and families who live with it every day.
It has long been accepted that rare-disease patient organizations play an extremely important role in advocacy. Now, they are also playing an increasingly visible and significant role in research and regulatory matters.
Some of the most exciting drug approvals to be announced over the past few years have been made possible by successful partnerships between patient organizations and academic or industry researchers. Clearly, patients have moved far beyond simply being fundraisers for research. They are active partners in the most successful studies, and defining how that partnership should work is one of the most interesting topics being discussed within the community today.
On the regulatory front, FDA hosted its first-ever Patient Advocacy Day on Rare Disease Day 2012. It was the first time many patient advocates had ever set foot upon FDA’s White Oak Campus. The fact that Commissioner Margaret Hamburg and other senior officials spoke demonstrated the agency’s commitment to enhanced communication with patients.
Since then, FDA has continued a productive dialogue with patient organizations on topics such as risk/benefit and patient-focused drug development. While some of this was mandated by FDASIA and the PDUFA V reauthorization process, it’s also very clear that there is growing awareness at FDA that the patient voice provides a unique perspective and needs to be heard.
These topics were on the agenda at the annual U.S. Conference on Rare Diseases and Orphan Products hosted by NORD and DIA last week. It is significant that two of the most popular sessions were focused on evolving models for collaboration among patients, academic researchers and industry.
NORD and DIA also hosted a pre-conference workshop for patient advocates, where three general themes were apparent:
The evolving role of patients is clearly a topic of importance in the community. And, judging from the caliber and commitment of the patient advocates we met at last week’s conference – and with whom we regularly interact – this expanded role for patient advocates could lead to a promising new era in orphan product development.
Julie Flygare, JD
Narcolepsy Advocate and Blogger
Patient advocacy is entering an exciting new era. More than ever, patient advocates are working with researchers, government officials and pharmaceutical companies to advance therapies that address the concerns and priorities of patients. For the active and passionate rare disease community, this trend is a welcome opportunity to show our strong commitment towards improved therapeutic options.
This past year, I led the campaign for narcolepsy’s inclusion in FDA’s Patient Focused Drug Development Initiative (PFDDI). In the spring, narcolepsy was named as one of the first 12 diseases in the program, to be addressed with a public meeting on Sept. 24, 2013.
Narcolepsy was the fourth disease area to be addressed, and the first rare disease.
FDA aimed to gather a wide variety of narcolepsy patient perspectives to make the meeting as meaningful and productive as possible. Narcolepsy affects 1 in every 2,000 people – about 200,000 Americans but only one-quarter of narcolepsy patients have received proper diagnosis and treatment. Given the rare disease narcolepsy patient population, FDA was concerned about participation levels.
In addition, narcolepsy has not had a consistent strong policy presence in Washington DC. As a narcolepsy spokesperson, I was also concerned about rallying a strong response. I teamed up with other community leaders to co-lead the Unite Narcolepsy initiative to educate and empower patients in preparation for the FDA meeting. We launched a patient survey, hosted a webinar series and conducted extensive social media outreach.
While narcolepsy may be rare and new to the health policy scene, our community does not lack passion. Individuals responded to the FDA opportunity with overwhelming enthusiasm and on Sept. 24, 2013, our record-breaking participation levels “wowed” the FDA – with over 150 in-person meeting attendees and 700 webcast registrants.
The meeting’s discussion was lively, candid and at times, highly emotional. FDA representatives did a fantastic job facilitating the discussion, with respect and genuine interest. I believe that both the FDA and narcolepsy community walked away with a greater understanding of our collective concerns and goals.
While the FDA Patient-Focused Drug Development Initiative is a limited program, this is just the beginning of a new era of patient involvement in the drug development process. The rare disease community has already been active in thinking outside of the box, creating patient registries and advancing research and clinical trials. I would encourage the rare disease community to continue making innovative progress.
Today, it is more important than ever to have a meaningful dialogue between stakeholders in the healthcare field. Heatlhcare delivery is changing. As our society takes a closer look at reimbursement and the sustainability of current pricing systems, the rare disease community will need to remain connected, informed, vocal and forward-thinking. We must have a seat at the table to ensure that our goals are not overlooked or swept under the rug by the priorities of others.