Amicus Therapeutics hosts Rare Disease Day event

Recognition of global Rare Disease Day

BY: NORD
Moving and motivational personal stories were shared as New Jersey rare-disease advocates gathered on Friday, Feb. 27, to participate in a panel discussion in recognition of global Rare Disease Day.
Among the experts who spoke to employees at Amicus Therapeutics — a Cranbury, N.J. biopharmaceutical company developing treatments for several rare disorders — were:
• Karen Ball, who co-founded the Sturge-Weber Foundation in Mount Freedom, N.J. two decades ago to help her sick daughter;
• Annette Bourhill of East Rutherford, the mother of 3 ½-year-old Paige, who can’t walk, talk or swallow but remains undiagnosed despite visits to numerous medical experts; and
• Dr. Kenneth Lipkowitz, a Howell internist for 30 years who gives piano concerts and sells his CDs to raise funds for a rare-disease group, the National Gaucher Foundation.
“That Amicus reached out to the rare disease community and all the stakeholders is great,” said Ball, “because once we all sit at the table as equal partners, that’s when we really can make a lasting impact in the lives of those who are affected.”
Designed to call attention to the public health issues associated with rare diseases, Rare Disease Day was launched last year by the European Rare Disease Organization EURORDIS. This year, the United States observance — on Saturday, Feb. 28 — was coordinated by the National Organization for Rare Disorders, a Connecticut-based nonprofit federation of voluntary health organizations dedicated to helping people with rare diseases and assisting the groups that serve them. Ball is a member of the group’s board of directors.
Around the globe, 29 countries observed Rare Disease Day with a variety of events, from grassroots programs such as China’s campus lectures, movie screenings and legal seminar to the dinner debate “Patient Care: A Public Affair” in the European Parliament in Brussels on March 3.
Amicus coordinated its Rare Disease Day panel as part of its ongoing effort to educate employees about the community within which they work. The company also wanted to promote the day’s goal — raising awareness among the general public about rare diseases, the number of people affected by them, and the importance of developing effective treatments.
“This is a day to reflect on all the effort yet to be made in the years and decades ahead to work to develop medicines that can improve the lives of so many,” said John Crowley, Amicus’ president and CEO. “It is also a day to celebrate the special strength shown by all those who struggle with these disorders and the remarkable courage, love and commitment that they show each day.”
Amicus’ Feb. 27 event, which drew an audience of about 60 and began with the screening of two videos — one about NORD and the other about Rare Disease Day — presented an opportunity for experts from different areas of the rare disease community to share their perspectives.
Before the discussion, Ball said she was “anxious for Amicus’ scientists to hear what we now know about Sturge-Weber Syndrome” — a condition characterized by a red facial birthmark and sometimes glaucoma and seizures — due to ongoing research being funded by her foundation.
Bourhill, who attended with her daughter, explained that Paige was healthy until she was 10 months old. She described Paige’s initial misdiagnosis by a doctor who said she had a particular fatal disease, and her family’s continuing search for answers.
“When we first started our research about Paige’s illness, we didn’t realize there were undiagnosed illnesses out there,” Bourhill said. “There might be a family out there that is just starting its search, and they need to know they’re not alone. There are people who can lend support who’ve been through a similar situation.”
She added that parents of children with unusual symptoms should seek second or third opinions if they doubt a doctor’s findings, and should “never give up” their search for an accurate diagnosis.
Dr. Lipkowitz, who is interested in rare diseases although he doesn’t treat them, spoke about the need for effective treatments for rare-disease patients, who otherwise may not be able to properly function at home or on the job. He pointed out that patients with rare diseases need as much help as possible from doctors, family and support groups, because they’re facing medical problems that can “consume their lives.”
Those who know rare-disease patients can make a big difference simply by “offering to run errands for them,” Dr. Lipkowitz said. Ball agreed, adding that “friends, relatives and co-workers can really help ease that burden by offering to sit with a sick child in the home so the rest of the family can go have a typical day at the mall, or even just by taking the child and letting the family have some quiet time in their home.”
A rare disease is one that affects fewer than 200,000 Americans. According to the National Institutes of Health, there are nearly 7,000 such diseases affecting nearly 30 million — or 1 in 10 — Americans.
“People with rare diseases remain a medically underserved population in every country,” said Peter Saltonstall, president of NORD. People with these diseases often have trouble finding medical experts, have few treatment options and face delays in getting accurate diagnoses.
Since 1983, when Congress passed the Orphan Drug Act to create financial incentives for companies to develop treatments for rare diseases, nearly 330 such treatments have been approved by the U.S. Food and Drug Administration. While the FDA estimates that between 11 and 14 million Americans benefit from these products, more than 15 million Americans have diseases for which there is no approved treatment.
Amicus Therapeutics, a publicly traded biopharmaceutical company with more than 100 employees, is developing a new class of small-molecule, orally administered drugs known as “pharmacological chaperones” to treat a range of human genetic diseases. Amicus is currently conducting Phase 2 studies of its potential treatments for Gaucher and Pompe diseases and is designing Phase 3 clinical trials of a potential treatment for Fabry disease. This month, Amicus was named one of the Best Places to Work in New Jersey for 2009 by NJBIZ.
Members of the press:
Those who would like to arrange interviews with panelists, obtain a press kit or arrange interviews with Amicus representatives are asked to contact Beth Fand Incollingo at 609.351.5990 or [email protected].
For more information about Amicus and its pharmacological chaperone technology, please visit www.amicustherapeutics.com.
For more information about Rare Disease Day activities in the United States, please visit NORD’s Web site at www.rarediseases.org. For information about the day’s events around the globe, please visit www.rarediseaseday.org.
To speak to a NORD representative, please contact Mary Dunkle at [email protected], or call 203.744.0100 (office) or 203.942.6443 (cell).