Patients, Advocates, Researchers & Legislators Gather to Mark Rare Disease Day in Massachusetts

February 28, 2011

More than a hundred patient advocates, biotechnology industry stakeholders and legislators gathered to mark the third annual Rare Disease Day at the State House today.

The last day of February has been designated as Rare Disease Day in Massachusetts to call attention to the public health issues associated with rare diseases, which affect nearly 30 million Americans and countless others around the world.

At the request of MassBio, the Shwachman Diamond Syndrome Foundation, Massachusetts biotech companies and patient advocacy organizations, Gov. Deval Patrick recently signed a proclamation declaring February 28th as Rare Disease Day. The Commonwealth joins a coalition of organizations recognizing the day, being coordinated by the National Organization for Rare Disorders (NORD), that includes patient organizations, professional societies, government agencies, medical researchers, and pharmaceutical and biotechnology companies.

Speakers at the event included Blair Van Brunt, President of the Shwachman Diamond Syndrome Foundation,Neil Kirby, CEO of Edimer Pharmaceuticals, Alison McVie-Wylie, a researcher at SpeakersGenzyme, Mark Baldry of Shire Pharmaceuticals, Rep. David Linsky of Natick and John Heffernan from MassBio.

“The Massachusetts biotechnology community is at the forefront of research to discover new therapies and cures for rare diseases,” said Robert K. Coughlin, President and CEO of MassBio. “We are proud to call attention to their efforts, and to the importance of supporting investment in early stage research to solve the special challenges facing patients with rare diseases and their families every day.”

“As a part of a patient advocacy organization and a parent of a child with a rare disease, it is fantastic to have all the team players in one room who are the necessary components in the process of helping the rare disease communities find better lives, possible treatments and dare I say cures,” said Blair Van Brunt of Shwachman Diamond Syndrome Foundation. “Gains made for one rare disease can benefit all rare diseases which in turn helps the research for the diseases found in the general population.”

"The truth is that rare diseases affect families and businesses in every community in the Commonwealth and across the world. There is no excuse for why we still don't have effective treatments, but medical innovation taking place right here in Massachusetts may soon provide relief to millions of people living with rare diseases worldwide," said. Steve Perrin, Ph.D., CEO & CSO of ALS-TDI.Kirby

A rare disease is one that affects fewer than 200,000 Americans. According to the National Institutes of Health (NIH), there are nearly 7,000 such diseases affecting nearly 30 million Americans.

“Synageva is proud to join Mass Bio in support of Rare Disease Day. It is imperative that we continue to raise awareness of these often overlooked but devastating diseases. We are committed to discovering, developing and delivering treatments that will provide hope for patients who currently face tremendous challenges when seeking treatment and often go through this traumatic period alone,” said Sanj K. Patel, CEO of Synageva BioPharma Corp. in Lexington.

“Biogen Idec is committed to discovering and developing therapies for people with rare and devastating diseases,” said Douglas E. Williams, Ph.D., Biogen Idec’s Executive Vice President of Research and Development. “Our late-stage drug candidate in amyotrophic lateral sclerosis, or Lou Gherig’s disease, is one of the most promising the industry has seen in 15 years against a disease that typically kills people within five years of diagnosis. Our long-lasting blood factors, which are in late-stage clinical trials, have the potential to significantly reduce the frequency of injections. If brought to market, these products would be the first innovation in more than a decade for people with hemophilia. We commend MassBio and other groups worldwide for drawing attention to rare diseases and the need to work together for much-needed therapies and services.”

Rare Disease Day activities in the U.S. will include a nationwide network of online videos, patient stories and blogs; newspaper, radio, and television reports; state and municipal proclamations; a WileyRare Disease Hall of Fame for researchers; and other activities designed to raise awareness of what it means to have a rare disease.

"Edimer is a proud member of the Massachusetts biotech community which has made an enormous difference in the lives of people affected by rare diseases and we are committed to doing even more," said Neil Kirby Ph.D., President and CEO of Edimer Pharmaceuticals. "We are confident that the Commonwealth will continue to be a leader in the development of new treatments for rare diseases and we look forward to seeing new products being approved by the FDA at an even faster rate to address the needs of this important group of patients and their families."

People with rare diseases often face challenges that occur less frequently with more common diseases, including delay in getting an accurate diagnosis or a missed diagnosis, few treatment options, and difficulty finding medical experts. Many rare diseases have no approved treatment, and insurance may not cover treatments that aren’t approved. Medical and social services may be denied because those making the decisions are not familiar with the diseases. Also, treatments for rare diseases tend to be more expensive than treatments for more common diseases.

“For many patients and their families, the journey to a diagnosis and subsequent treatment for a rare disease can be a long, complicated process,” said Sylvie Grégoire, President of Shire HGT. “Shire is committed to enabling people with life-altering conditions to lead better lives – and for us, this includes improving access to information as well as providing much-needed treatment for rare diseases. We are proud to support World Rare Disease Day and hope that this day can highlight the amazing people who encompass the rare disease community, and their unique and important situation as a global public health concern.”

In 1983, the Orphan Drug Act was passed by Congress to create financial incentives for companies to develop treatments for rare diseases.  Since then, more than 360 orphan drugs and biologics have been approved by the Food and Drug Administration (FDA).  It is estimated that from 11 to 14 million Americans benefit from these products, but that still leaves more than 15 million Americans with diseases for which there is no approved treatment.Patients

“Recognizing the needs of patients with rare diseases, including rare cancers in our particular mission, was embodied in 1983 with the passage of the Orphan Drug Act. With healthcare and regulatory practices in significant evolution, this day is an important reminder to us of our obligation as drug developers,” commented Jonathan Lewis, MD, PhD of ZIOPHARM Oncology in Charlestown.

Rare Disease Day also will highlight the unique partnership that exists among the patient community, the National Organization of Rare Disorders, government entities such as the NIH Office of Rare Diseases and FDA Office of Orphan Products Development, medical professionals, researchers, and companies developing orphan products.

Other Rare Disease Day 2011 activities in the U.S. will include creating an online library of two-minute videos about specific rare diseases and how they affect patients’ daily lives.  Also, patients across the nation will help NORD create a database of physician experts.  Patients will share their personal stories through a survey hosted by NORD and the Pew Research Center, and there will be a drive to enlist support for a new Rare and Neglected Diseases Congressional Caucus.

For more information about Rare Disease Day activities in the U.S., go to  For information about global activities, go to

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