A time for hope for people living with rare disorders

Laura Schoen of Weber Shandwick Healthcare shares her thoughts, in our rare disease themed month, on uncommon diseases and the common challenges that they share.

Biopharmaceutical research is entering a new era of R&D and those who fight against rare diseases are gaining a far greater understanding of the special challenges they face.

Once considered rare, uncommon diseases, are getting a fair amount of attention. Patients who live with these heartbreaking conditions have a unique story, but share common challenges.

The onset of the disease varies; some learn later in life that they are afflicted by a condition such as Lou Gehrig’s, others are given the diagnosis at a very early age, such as Hunter Syndrome or Gaucher’s Disease patients. Nevertheless, many of the challenges faced are the same: misdiagnosis, limited treatment options and the high cost of therapy.

The good news for this small percentage of the population afflicted by 7,000 rare conditions is that a recent report from Pharmaceutical Research and Manufacturers of America (PhRMA) indicates a record number of medicines are currently in development. The increases are attributed in part to progress made in basic molecular biology, which provides clues that can be followed in the lab, and in part to important government policies like American’s Orphan Drug Act, which provides some incentives for research into rare diseases.

Particularly significant is that biopharmaceutical research is entering a new era in which the emphasis of R&D efforts is less focused on blockbuster drugs and increasingly interested in high-price treatments for unusual conditions. Aided by scientific advances, such as a growing understanding of the genome, researchers have new tools to explore additional rare diseases, which are often far more complex than common diseases.

This is indeed very good news for patients and families suffering from the crushing psychological and medical impact of an orphan disease.

A renaissance with unique challenges

Completing Trials – For starters in order for any of the numbers of potential therapies for orphan diseases in development on the biopharmaceutical pipeline to reach patients, there must be a consistent, predictable and science-driven regulatory process.

“Once considered rare, uncommon diseases, are getting a fair amount of attention.”


Among the special challenges faced by those who fight against rare disease is the difficulty to find enough patients for clinical trials as well as enough medical experts to both conduct clinical trials and sit on review boards. Balancing access for clinical trials against safety issues can be particularly difficult when a rare disease, left untreated, has devastating or fatal consequences.

Building Communities – In many cases, the low incidence of patients diagnosed with a rare disease makes it especially problematic for patients and families to join forces, share experiences, advocate and find experts. Progeria, for example, a rare disorder aging kids prematurely, affects just a few dozen around the world – a very small patient pool — but on average, a child born with this disease will be dead by the age of 13. Hopefully social networks may allow these families to connect in the future.

“…many of the challenges faced are the same: misdiagnosis, limited treatment options and the high cost of therapy.”

Marketing and Education – Traditional marketing and educational activities, which rely on paid media, will not show a return on investment for most orphan diseases. Marketers are then forced to create very personal channels to reach patients and families. The time and effort devoted to identify physician experts or gain the attention of payers far exceeds the standards of pharmaceutical marketing. Often an advocate or a pharma representative has to become personally engaged to build bridges with the community and communicate the value of new treatment. Obviously a tailor-made approach adds cost and time to the process.

Regulatory Hurdles – Safety issues are equally tough. The standards that regulatory authorities adopt to approve most medicines – such as a direct measure of benefit , impact of treatment on a functioning organ, placebo-controlled studies, multiple and globally diverse study sites, use of comparator agent and recruitment of adult populations — do not fit the specific challenges of a drug for a rare disease regulatory approval process. Moreover, the hurdles don’t go way after approval. Companies marketing drugs in the rare disease arena are acutely aware of the possibility of sales suspension or stronger side-effects warnings. In an environment where you are treating small patient populations, you learn how to live with uncertainty.

A global perspective

Rare disease research and discovery progress, however, is now clearly global as the industry works against a serious worldwide public health concern. The World Orphan Drug Congress, held in Washington, DC in early 2013, for example, was attended by international industry leaders and became a forum to discuss issues ranging from the current orphan drug pipeline to how public policies in the US and abroad can affect the development, review and reimbursement of new therapies for rare diseases.

“This year’s Rare Disease Day, therefore, will encourage us to continue finding ways to work together to provide the diverse care needed by people living with a rare disease.”

On February 28, 2014, in fact, the seventh International Rare Disease Day will encourage everyone in the rare disease community to “Join Together for Better Care.” The “care” theme calls attention to a widely held perspective that the many different facets of rare disease care represents a universal need for patients and their families around the world. This year’s Rare Disease Day, therefore, will encourage us to continue finding ways to work together to provide the diverse care needed by people living with a rare disease.

The international goals remain for rare disease patients to obtain the highest attainable standards of health and be provided the resources required to overcome common obstacles in their lives.

The Bottom Line – Despite the challenges, patient advocates, families and the pharmaceutical industry are becoming more creative and looking for new ways from the lab to the community, testing new solutions in every single aspect of the “treatment continuum.” The high level of engagement in the community helps make every victory all that much sweeter. Finding a breakthrough therapy that really works in any underserved population that has been through tremendous adversity is gratifying.

Success is seen in the US in the more than 350 medicines that were approved here in the 1980s / 1990’s to treat rare diseases, compared to fewer than 10 in the 1970s. All these developments bring hope that with continued innovation, the desperate search for breakthrough therapies for rare diseases, such as cystic fibrosis, multiple sclerosis and muscular dystrophy will have significant success in the current decade.



About the author:

Laura Schoen is president of the Weber Shandwick global healthcare practice. She joined the company in 2000 and has built the firm’s healthcare public relations operations. She works closely with its established practices in North America, Europe, Asia and Latin America.

A pioneer in global public relations, she has provided strategic counsel to some of the most visible multinational healthcare-related campaigns, as well as provided ongoing communications support to an array of clients. Prior to joining the agency, Laura worked for Euro RSCG (1991- 2000) and at Burson Marsteller (1983–1991). At Euro RSCG, Laura was the founder and president of Euro RSCG’s healthcare public relations network in the United States. The international and U.S. clients Laura has counseled include: sanofi-aventis, Eli Lilly, Procter & Gamble, Pfizer, Merck, Wyeth, as well as biotechnology companies such as Gilead, Celgene and Genentech. Her work experience also extends to nonprofit groups. In this area, Laura has worked to support multiple cancer and women’s health groups.

Laura has developed and managed a variety of programs to support pharmaceutical products during pre-launch, launch and post-launch campaigns in the fields of cardiology, CNS, oncology, anti-infectives, antivirals, metabolic disorders, eye care, orthopedics, pediatrics, women’s health and medical devices. She has also provided direction and counsel to clients in the areas of crisis preparedness, corporate positioning and issues management.

Earlier in her career, Laura worked in broadcasting news and advertising. She earned a Bachelor of Arts in journalism and holds a Master’s degree in international relations from the University of Pennsylvania. She is a contributor to many professional PR and healthcare marketing publications. She also lectures at New York and Columbia University graduate schools.

Closing thought: What common challenges do rare disease patients face?