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.
At the age of 15, Sophia Hanson was attending boarding school in Chicago at Lake Forest Academy. She loved running for the cross-country team, where she would run up to six miles a day and compete on a regular basis, pushing her body to extraordinary limits.
Now at 18 years old, Sophia is preparing for New York University in the fall where she will study liberal arts and pursue a degree in journalism or creative writing, but varsity sports will not be part of her day-to-day life.
Sophia has been diagnosed with Lymphedema Praecox, a rare disease that causes swelling and hardening in her legs. It is painful and can be debilitating.
At first, Sophia refused to believe that her legs would no longer function as they once had. After talking with her mom, she realized the severity of her condition, and she decided to face it head on. Sophia diligently follows the treatment routine and says she is in the best shape of her life, recently running 120 miles in 30 days as part of “The Mother Daughter Run for Lymphedema” fundraiser.
Sophia is active in trying to help others with Lymphedema. She is a charter member of group that seeks to support the passage of The Lymphedema Treatment Act (HR 1608), and she recently attended the Lymph Science Advocacy Program in Washington, D.C. to learn about Lymphedema research.
While she may not compete athletically at NYU, Sophia is excited for everything else college will bring. Since being diagnosed, she has seen an “outpouring of creativity” in her writing. She attends slam poetry events and takes strength from knowing that her writing is better than ever.
Sophia is an example of confronting challenges and obstacles, and not letting them define you. She says, “People can help you on the way to courage, but courage is something that you have to create for yourself.”
NORD is honored to tell Sophia’s story as part of the 2015 Portraits of Courage celebration.
“The good thing about being diagnosed with Neurofibromatosis is that I can help other people with it,” says Bailey Gribben.
Bailey and his mom remember the days before his diagnosis: one day on the phone, he casually said he needed put the receiver to his good ear. This prompted a visit to the doctor, and it was then that they found a tumor in his left ear.
Two years later, a tumor on his spine and genetic testing revealed Bailey had Neurofibromatosis Type 2 (NF2), a genetic neurological disorder that causes tumors to grow on the nerves of the brain and spinal cord and is characterized by hearing loss.
In the 10 years and 14 surgeries since, Bailey has been a mission to find a cure. He has raised more than $75,000 for the Children’s Tumor Foundation, served as one of their ambassadors, participated in a study at the National Institutes of Health, regularly attended events, and repeatedly voiced the need for research.
“I have big plans and dreams and I will not let NF2 stop me from doing what I want to do,” says Bailey.
He never dwells on the disease, or that he must wait and watch every six months to see if the tumors have grown, or that doctors have told him he could wake up one morning and be deaf, or one day they may need to amputate his leg. Instead, he moves forward, focusing on action and awareness and what he wants to accomplish.
This fall, Bailey will enroll at Rochester Institute of Technology to study computer engineering and technology. He plans to work at Google.
Bailey encourages other patients by sharing his experiences and this advice: “I tell them there is always good in the bad. While it is easier to focus on the negativity, because there is more of it, look at the good of getting involved and meeting new people.”
NORD is honored to tell Bailey’s story as part of the 2015 Portraits of Courage celebration.
“I tell my story because it makes people realize how lucky they are in life, and hug their kids a little bit tighter at night.”
These are the courageous words of Tony Ferrandino, who lost his son, Drew, to Batten Disease in September 2014. He and his wife, Katie, and their sons, Gavin and Drew, had lived a relatively normal life in Pennsylvania until the day Drew turned 3 years old and had his first seizure.
For the next two years, Drew’s condition deteriorated while the family struggled to find a diagnosis. “We tried everything. It’s the dedication that not only we’ve had, but that so many families have had. We will do anything we have to do to help our kids.”
The family traveled across the country for procedures. When Drew started to have trouble seeing, Tony found a top neural ophthalmologist in New York City, Dr. Dabinski. The doctor noticed a familiar change in Drew’s eye, explaining that eye tissue is like brain tissue, and gave the family the best clue as to what was happening. From there, a geneticist diagnosed Drew with Batten Disease, a progressive degenerative neurometabolic disorder that results in deterioration of the brain, neurological function, and other physical impairments.
Leaving one of Drew’s doctor visits, Tony recalls “a huge wind blew and I remember seeing my son’s hair blow in the wind. I looked at my wife and said, ‘You know what? We have to keep fighting and enjoy every day.’ We made the conscious decision to stay positive.”
They took action by joining Batten Disease Support and Research Association, where Tony is a board member, and starting their own nonprofit organization, Drew’s Hope.
Since losing Drew, they try to focus on all they feel fortunate for. Gavin, a baseball pitcher, traces his brother’s initials in the mound every game.
“It’s horrible for this to happen, but it also makes people take a step back,” says Tony. Looking to the future, he wants to continue raising funds and awareness, and making each day as positive as possible.
NORD is honored to tell Tony’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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