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.
In a race against time, Glenn and Cara O’Neill have quarantined their family for nearly one year to try and save their daughter, Eliza.
Eliza, 5, has Sanfilippo Syndrome, a rare degenerative disease characterized by the body’s inability to break down complex carbohydrates, resulting in a build-up of cellular waste in the brain and central nervous system that causes neurological and developmental deficits. Their self-isolation is an attempt to protect her from illness and immunities that would prevent her from participating in an upcoming clinical trial that could save her life.
Glenn and Cara are courageously and bravely blazing the path to find a cure for Sanfilippo. Within two months of Eliza’s diagnosis, they had founded the Cure Sanfilippo Foundation and were on their way to raising more than $2.2 million to finance research. They also advocate for newborn screening as part of early diagnosis.
To raise the money, Glenn and Cara launched an online giving campaign supported by a plea for help in the form of a personal video. They recall how vulnerable, exposed and uncomfortable doing the video made them feel, but “we were going to do whatever we needed to do,” says Cara.
The video went viral. Prior to this, Glenn had done no more than 10 Facebook posts in the last three years and he had no Twitter account. Today, they have presented their experience and social media expertise to other parents and nonprofits at major conferences and on national TV.
Of their supporters’ generosity, Glenn says he “always knew people were good, but I never expected all these types of angels that would just give large portions of their lives to others, like us.”
Thinking about how far they have come and where they hope to be, they say they “are hoping for the fairy tale ending not just for Eliza, [but] for all the kids out there and the people who have helped us. We feel like we are really close.”
NORD is honored to tell Glenn and Cara’s story as part of the 2015 Portraits of Courage celebration.
Savannah Hollis, a healthy three-sport athlete who had just turned 21, was one week into her senior year at the University of Louisiana at Lafayette when a sudden internal bleeding episode nearly killed her and left her severely paralyzed on her right side.
Her symptoms came on with dizziness, which she tried to sleep off with a nap, followed by balance issues and numbness, and she was rushed to the ER. Hours later, unable to speak, she could hear doctors talking beyond her hospital bed, saying they did not think she would make it. This intense experience was the first sign she had the rare disease Cavernous Angioma, caused by blood vessel abnormalities that lead to altered blood flow.
Refusing to lay idle in the hospital, she researched and read everything she could find about her condition. She met with two neurosurgeons who said the necessary surgery would be too risky, and then she met Dr. Duke Samson.
“Dr. Samson touches the cases that nobody else is willing to touch. He was exactly what I needed at that moment, to tell me how it was, and not promise anything,” she remembers.
Savannah adopted her doctor’s “no sugar coat” approach and has used it to help her long recovery. For three years, she could eat only with a feeding tube and she needed to re-learn how to swallow and speak. Now, she has graduated from college, teaches advanced placement high school biology, and is planning her June 2015 wedding.
Savannah feels thankful for her experience, saying she no longer takes things for granted. She uses her drive to help others, has served on the Board of Angioma Alliance, and has organized runs and walks as fundraisers.
“Courage means believing that you will make it to the finish line, even though you have all these hurdles. It would have been really easy to stop trying, and it is so important in recovery to keep going.”
NORD is honored to tell Savannah’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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