My youngest of three daughters, Hannah, has an ultra-rare genetic disorder called Giant Axonal Neuropathy (GAN). She was diagnosed following her fourth birthday, and she is now 11. GAN is taking it’s tole on Hannah. She has scoliosis and is losing strength in her trunk. She can barely walk with the help of two adults. She is choking on water. She is losing muscle mass in her arms and legs. She sleeps with a cpap.
Hannah is afraid to sleep alone. For the past two years, I have been sleeping with her. I love the time we have alone together each night. I hate it that she is so dependent, as this frustrates her and it isn’t fair that she has this disorder. I am angry to my core, but I love the tight bond and special relationship we have because she is dependent.
NORD is honored to tell Lori’s story as part of our celebration of moms this Mother’s Day (#myraremomstory).
To make a donation in honor of a mom in your life this Mother’s Day, please visit our Donate page.
Global PWS Registry Debuts as Part of Prader-Willi Syndrome Awareness Month
Washington, D.C. and Pasadena, Calif.—May 4, 2015—The Foundation for Prader-Willi Research (FPWR) and National Organization for Rare Disorders (NORD)® today launched the Global Prader-Willi Syndrome Registry, a new database to accelerate research and cures for the rare disease Prader-Willi Syndrome.
The Global PWS Registry creates a platform for patients around the world to share information about PWS with researchers on developmental history, medical complications, and quality of life.
NORD President and CEO Peter L. Saltonstall said the Global PWS Registry addresses what is widely recognized as one of the greatest needs and inherent challenges of the rare disease community – natural history data to help medical researchers better understand how diseases develop and progress over time.
“The Global PWS Registry will provide a complete picture of each patient’s experience with Prader-Willi,” said Foundation for Prader-Willi Research Executive Director Susan Hedstrom. “We are launching this initiative to help fill the missing link researchers and medical experts need to advance research and get to a cure.”
To help drive awareness and participation, FPWR has created a custom Facebook Profile Pic creator that will allow participants to promote the registry: http://www.fpwr.org/pic-creator. This is one of many activities planned for Prader-Willi Awareness Month.
“Our goal is to enroll as many patients, or their parents or legal guardians, as possible,” said Hedstrom. “The success of the registry is dependent upon community participation.” read more >
Fallon was born on October 10, 2013, at 4:44 a.m. Minutes later, she was whisked away from her parents and the decision was made to send her to another hospital with an experienced NICU. In less than 24 hours, she was moved to a third hospital, Morgan Stanley Children’s Hospital in New York City, which had a yet potentially life-saving heart and lung bypass machine called an ECMO machine. Fallon arrived with minutes to live.
Fallon passed away a few days later, on October 21. “We held her while she took her final breath; a moment we will never, ever forget,” said Kristen.
It was not until two months later with Fallon’s final autopsy results that a lung biopsy revealed Fallon had died from a rare disease called Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins.
ACD/MPV is a rare, incurable lung disease that is apparent at birth. It affects the development of the lungs and their blood vessels. Without a lung transplant, ACD/MPV is fatal. Babies are not likely to survive long enough waiting for a donor (another infant), and even less likely to survive the transplant.
The cause is not known. Only 400 known cases have been identified worldwide since ACD was discovered in 1947.
Since Fallon’s death, Kristen has set out to raise money for ACD research.
“If even one baby can be saved based on that research – we would be so happy,” said Kristen.
To make this happen, Kristen and her family teamed up with the ACD Association, a group of parents around the world who have lost a child to ACD. read more >
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 >
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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