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.
Today, NORD is joining the Everylife Foundation, Genetic Alliance, Global Genes, and the rare disease community in voicing our support for the OPEN Act (H.R.971), and requesting its inclusion within the 21st Century Cures Act.
On today’s day of action, we are asking you to call your Congresspeople, and ask them to support the OPEN Act, and to ask them to tell the Energy and Commerce Committee that they should include this important legislation in the 21st Century Cures Act.
Here is a sample script for your message:
Hello, my name is XXXX. I’m calling to urge you to support the OPEN ACT, HR 971, and to ask you to urge your colleagues in the Energy and Commerce Committee include it in the 21st Century Cures Act.
The OPEN Act could drastically increase the number of rare disease therapies, and could solve many of the off-label reimbursement problems that many rare disease patients face.
[please explain why the legislation is important to you as a patient]
Thank you for your time and consideration.
To call your Congressperson, call the Capitol Switchboard at: (202) 224-3121.
Together we are strong!
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 >
“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.
Translate This page:
SUBSCRIBE TO OUR E-NEWS