NORD staff attended today’s 21st Century Cures hearing, following yesterday’s release of the second discussion draft, and there were more than a few highlights for NORD and the rare disease community.
NORD’s Groundbreaking Registry Program
The highlight of the briefing occurred when Rep. Matsui asked about the registries provision and whether the FDA/NIH will be working with NORD. Dr. Janet Woodcock, Director of the FDA’s Center for Drug Evaluation and Research, agreed entirely, touting her ongoing work with us. You can see the exchange in this video starting at 1:18:45.
Rare Pediatric Disease Pediatric Review Voucher (PRV) Program
Rep. Butterfield entered into the official record NORD’s sign-on letter of 115 patient organizations in support of the PRV program. He spent most of his five minutes touting the program, and questioning the Committee for not reauthorizing the program in the latest discussion draft.
Additional Points of Interest
Rep. Capps called for more rare disease research funding, Rep. Engel called for more attention to rare diseases and biomarkers, and Rep. Bilirakis advocated for the OPEN Act.
The Energy & Commerce Committee featured NORD’s position statement, issued yesterday, in today’s “What They’re Saying” Recap, seen here. We will continue to work closely with the Committee and members of the House and Senate on behalf of our members and all patients with rare diseases as legislation moves forward.
“Courage is in my nature; it is the type of person I am,” explains 18-year-old Devin Alvarez. The young man speaks with such certainty that it is hard to believe he and doctors once thought he would not live to be a teenager.
Devin has Sprengel Deformity, a rare disease in which the shoulder blade is displaced upward. The condition is apparent at birth and causes a number of skeletal and muscular deformities and medical complications. Devin has undergone 44 surgeries, yet this does not stop him from being what he calls “a normal kid,” playing sports, walking his dog, and aspiring to do great things in the world. His goal is to become a face of hope for people who are going through difficult times.
“My back is full of scars because of all my surgeries. When I look at myself in the mirror, I don’t grieve. The scars are a motivational aspect for me to continue on and strive for greatness.”
Devin recalls waking up during one surgery. His lungs had filled with fluid and doctors were concerned. Most people would be terrified to hear what Devin went through that day. He says, “I just went through the surgery like anything else,” and he compares his health challenges to being a student. “For example, I’m in high school now and I compare these things to a homework assignment, something I have to get through. I keep on striving, no matter what happens to me.”
When asked how he developed such an amazing outlook on life, he gives credit to two things: his mother and music. Devin looks at his mother, Rixys, and attributes his positivity, courage to fight this disease, and determination to make a difference, all to her. Devin also never doubts his future and plans on one day being “the most influential rapper of the time.” Titan, Devin’s stage name- a nod to the two titanium rods in his chest, wants to make music that inspires other people to never lose hope, to never stop seeing the light, and to keep going.
Devin explained to NORD staff that he loves music and writes lyrics and poetry often. Below is one of his poems dedicated to his mom, Rixys. read more >
The following statement was issued today by Peter L. Saltonstall, President and CEO of NORD, following the release of the second discussion draft by the House Energy and Commerce Committee for its 21st Century Cures initiative:
The second discussion draft of the 21st Century Cures initiative released today includes a number of encouraging ideas on how to advance the development of new medical therapies. The Committee and its staff deserve praise for efforts to bring these ideas together and for their months of work to make this a collaborative and transparent process.
We are encouraged by many of the ideas included in the second discussion draft. Since the initiative was launched one year ago, NORD has advocated for several provisions included therein, including incorporating the patient perspective through the patient-focused drug development initiative, developing registries of natural history data of rare disease patients, increasing transparency in the expanded access process, and increased funding for NIH, among others.
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 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)
On Wednesday, April 29, a hearing will be held in the House of Representatives to consider funding for the Departments of Labor, Health and Human Services, and Education. This is an opportunity to weigh in on the importance of federal funding for medical research and public health preparedness.
At NORD, our goal is to help develop safe, innovative treatment options to fight rare diseases. We need Congress to provide adequate funding to support medical research that can lead to lifesaving cures.
Join Research America in a day-long social media campaign letting Congress know that Americans care about medical progress and want a stronger public health system.
Related news: Read NORD’s Assistant Director of Public Policy Paul Melmeyer’s blog post, “Medical Research Should Be Everyone’s Priority“
We are excited to be featured on America’s Charities “Making Impact” blog today! Visit the America’s Charities website or read below to find out what director of development Derek Gavin does at NORD and how being a parent advocate shapes his work.
As posted on America’s Charities
In this Q&A, Director of Development, Derek Gavin, shares his role in executing NORD’s mission. While Derek’s official role is the Director of Development, his unofficial role is parent advocate. This February marked the 14th anniversary of his son Trevor’s passing. Being born with Metachromatic Leukodystrophy, his life expectancy was 3-5 years, but Trevor lived miraculously to 2 months shy of his 10th birthday.
Q&A With Derek Gavin:
What attracted you to this job & particular cause?
Since my son’s passing I have wanted to get involved in advocacy for people with rare diseases and their families. It took many years to overcome the devastating pain and emptiness of losing my son. I couldn’t talk about him without sobbing like a child. We were introduced to NORD as a resource upon getting his diagnosis. The people were nice and helpful and pointed us to another patient organization that represented the Leukodystrophies. As time went on, the need to advocate and give of myself overcame my emotional tenderness such that I could actually work professionally in this community which would help me make the most impact.
How are you making an impact through your work?
I was the owner of a small company when an opportunity opened at NORD. As the director of development, my overarching responsibility is to bring revenue into the organization from both the fundraising, individual giving side, and the industry side providing programs to industry that benefits industry and our patients.
It has been a blessing for me personally to work in this role as NORD is a truly independent advocacy charity and has been doing amazing work on all fronts for 32 years.
Many of the programs I promote to industry help the patients directly and in that way inspires hope and community. One of the overarching feelings one gets when diagnosed with a rare disease is one of isolation and the feeling of being alone. NORD’s motto “Alone we are rare, together we are strong” exemplifies the mindset of the organization and some of the goals of its programs. read more >
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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