Washington DC (May 21, 2015)—-NORD President and CEO Peter L. Saltonstall today issued the following statement on the approval by the House Energy and Commerce Committee of the 21st Century Cures legislative initiative and the introduction of the OPEN Act in the United States Senate. read more >
The following statement was issued by Peter L. Saltonstall, President and CEO of NORD, following today’s release of the third discussion draft by the House Energy and Commerce Committee for its 21st Century Cures initiative:
The latest iteration of the 21st Century Cures Act released today includes promising news for the rare disease community.
We are pleased to see that the draft legislation would reauthorize the Rare Pediatric Disease Priority Review Voucher (PRV) Incentive Program. NORD has actively advocated for this important piece of legislation, which would spur innovation by providing incentives for pharmaceutical companies to develop new therapies for children with rare diseases. Without reauthorization, this program was scheduled to sunset in March 2017.
We are also pleased to see the OPEN Act included in the latest discussion draft. The entire rare disease community has rallied around this piece of legislation that could lead to an increase the number of rare disease therapies, and has the potential to address many off-label reimbursement problems faced by rare disease patients.
The Committee and its staff deserve praise for their efforts to bring these ideas together to help patients. Since the 21st Century Cures Initiative launched last year, NORD has advocated for the inclusion of these important incentives and for several other provisions that would incorporate the patient perspective through the patient-focused drug development initiative, develop registries of natural history data of rare disease patients, increase transparency in the expanded access process, and increase funding for NIH.
We remain firm, however, on our view that any new responsibilities created under any law that is enacted must provide for adequate funding for the agency that must carry out the new responsibility. Underfunded or unfunded programs hold out hope but cannot be implemented properly without adequate funding.
Nothing is more important to the rare disease community than providing an environment conducive to the development of new therapies and access to them. We will conduct a thorough evaluation of this new draft and will continue to work closely with the Committee and members of the House and Senate as legislation moves forward.
Peter L. Saltonstall
President and CEO, National Organization for Rare Disorders (NORD)
In September 2009, a health sciences lecturer from California State University, Fullerton wrote to NORD with the following message: “I’m 50 years old. I’ve recently been diagnosed with an incurable rare disease – Wegener’s granulomatosis. And I’m planning to climb Mt. Everest in the spring to raise awareness on behalf of all people living with rare diseases.”
That’s was NORD’s first introduction to Cindy Abbott and we have come to know her well since then. Cindy did, in fact, climb Mt. Everest in April 2010, and she carried to the summit a Rare Disease Day banner given to her by NORD.
The following year, Cindy carried the same banner far below the ocean’s surface in a scuba dive also to promote rare disease awareness. And this year, she carried her NORD banner across 1,000 miles of Alaskan wilderness, completing the Iditarod after two previous attempts ended prematurely as a result of injuries and exhaustion.
Cindy is driven by a desire not to let her disease define her and to raise awareness for NORD, the Vasculitis Foundation (a NORD member), and the millions of other people living courageously with challenging rare diseases.
Cindy has written a book about her adventures in which she presented the philosophical basis for her exploits: “Life isn’t about waiting for the storm to pass. It’s about learning to dance in the rain.”
She has also conducted numerous media interviews and is the subject of a documentary film released earlier this year in which Emmy® Award-winning actress Valerie Harper – known to many as Rhoda Morgenstern – serves as host and narrator.
NORD is proud to present to Cindy our first-ever Rare Disease Public Awareness Award. Her determination to live life to the fullest in the face of a very serious and little-understood disease brings hope and inspiration to millions of others.
When Lori Sames’ daughter, Hannah, was diagnosed with Giant Axonal Neuropathy (GAN), a rare disease that results in progressive nerve death, she could find only one scientist in the world studying it. She knew that if they could ever hope to help Hannah or another GAN patient, she needed to do something revolutionary.
After overcoming the initial grief and shock through which she and her husband, Matt, could barely function (they did not even tell their families about Hannah’s diagnosis), they switched gears and decided to take action.
“We decided to fight. We decided not to take no for an answer,” she says.
They set out with determination and the realization that for any disease, someone has to be the first, and for GAN it would be their Hannah.
Five months later, their nascent organization, Hannah’s Hope Fund, convened 22 research scientists in Boston for the first-ever symposium on GAN.
Over the past seven years, Lori has pushed the envelope for GAN research. In spring 2015, the world’s first spinal cord therapeutic gene treatment is scheduled to take place, and the patient will be a GAN patient. Hannah’s Hope helped to fund this investigational treatment.
“We have to do everything we can to give Hannah a chance. She can barely walk with two adults holding under each arm. It is all crashing in on her. The time is now.”
Lori generously makes the time to help parents and advocates who are working on other rare diseases. When asked how she has managed to accomplish and learn so much, she says she relies on her passion, heart, and determination—her own type of Ph.D.
NORD is honored to tell Lori’s story as part of the 2015 Portraits of Courage celebration.
Yusuf Patel is a 12-year-old rare disease patient and advocate who is helping to save the lives of other children.
His journey began at 9 months old, on a flight home from India visiting grandparents. Yusef experienced a medical crisis that caused the plane to make an emergency landing in Turkey. The family stayed for two weeks until doctors diagnosed him with Methylmalonic Acidemia (MMA), a rare genetic disease caused by an enzymatic defect that alters the body’s ability to break down proteins.
The sudden and shocking experience struck the Patel family into action. Because of their efforts, Delaware now screens for MMA as part of its newborn screening program.
Yusef has sought out other ways to make a difference for chronically ill children. After undergoing a kidney and liver transplant at the age of 10, he raises awareness about the importance of organ donation. He has also collected more than 1,000 books and distributed them to libraries at local children’s hospitals, saying “I have been in those hospitals, and libraries are huge for kids and parents who come to stay.”
In April, Yusuf was recognized for his numerous volunteer efforts in Delaware, where he lives. He received the 2015 Governor’s Youth Volunteer Service Award for Social Justice and Advocacy.
Yusuf believes “courage means you keep going even though there are so many challenges, and to always have a hope for a better future.” He is an example of using his personal struggles with illness as empowerment to help others.
NORD is honored to tell Yusef’s story as part of the 2015 Portraits of Courage celebration.
RareDisease Dialog is the official blog for the National Organization for Rare Disorders (NORD). NORD’s staff and friends will share information of interest to the entire rare disease community.
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