Wellsville family benefits from Ice Bucket Challenge (Olean Times Herald)
Recently, the Olean Times Herald featured a piece about one of Hearts for ALS NY’s pALS, Deb Quinn, and how she and her family are currently participating in an ALS study due to donations received through the Ice Bucket Challenge. Please read the piece below, or click here for the link on the Olean Times Herald Website:
WELLSVILLE — Remember this past summer when millions of people from across the globe participated in the Ice Bucket Challenge by dumping a bucket of freezing cold water on themselves and vowing to donate to amyotrophic lateral sclerosis (ALS) research?
The campaign brought awareness to this progressive neurodegenerative disease — often referred to as Lou Gehrig’s disease — and the $100 million-plus in donations raised for ALS research through the challenge is making a difference for at least one Allegany County family.
The Quinns — Deb, Kristin and Dustin — a family from Wellsville, say they are seeing firsthand the benefit this global event.
“I no longer receive a blank stare when I tell people I have ALS. People are aware, they are supportive and help, especially in the Wellsville community and its surrounding communities. It makes us thankful to live in a small town,” said Deb, who was diagnosed with early onset symptoms of ALS in October of 2009, and diagnosed with ALS a month later.
Currently, she has progressed to the point where she has limited use of her arms and legs and relies on a wheelchair for mobility. She uses a portable oxygen machine to help her breath.
“It’s a constant change and adjustment to live with fatigue and weakness. You find different avenues to keep your life as normal as possible,” she said, adding the awareness to ALS and the impact it has on those who suffer with it is good, but she wanted the public to know that the donations from challenge provided her family with an opportunity that may have otherwise not existed.
As a result of the millions in donations raised for ALS organizations and research during the Ice Bucket Challenge, and because of Deb’s diagnoses, the Quinns are participating in a national ALS study — the Precision Medicine Program — being conducted by Boston-based ALS Therapy Development Institute (ALS TDI).
“The unfortunate reality of people living with ALS is that there are currently no treatments or a cure for the disease. There are ongoing research programs working to change that, and one of the approaches the ALS Therapy Development Institute is taking is a personalized medicine approach for people living with the disease,” said Grace Hochstatter, an ALS TDI spokesperson. “With the addition of $3 million to our study from the funds raised during the Ice Bucket Challenge this year, the Institute has now enrolled 300 people in the Precision Medicine Program with 79 clinical appointments for patients, like the Quinns, already scheduled through March, 2015.”
Deb added, “I’m so grateful to have both of my children involved in the study with me so we can get through this together. And, the study itself is really neat because each of our (genes) will be analyzed and the test data will be revealed to us through our own personal online portal. It’s a very informative study for the patients, and I think that’s really neat.”
The Quinns traveled to Boston last month for their initial testing, during which they learned Deb’s son Dustin tested positive as a carrier of the gene and her daughter Kristin tested negative.
“The door never shuts for us. Each person born in the family seems to have a 50/50 chance of having the gene,” said Deb, noting her grandmother, father and younger sister all were diagnosed with ALS and died during this past decade from the internal damage the disease causes. “It’s was really upsetting when we found out Dustin has the gene. I feel that some days, when I’m having a hard time with the symptoms. I can tell he is thinking ‘that could be me someday.’”
Deb added that she’s obviously grateful her daughter isn’t a carrier, adding somebody in the family deserved to have the health and strength to promote ALS research.
She said Kristin, who lives in Washington, DC, is a Young Faces of ALS Ambassador and in that role uses her family’s experience to teach others how they can assist those who have the illness.
Kristin also spreads the word regarding the family’s history with the illness using various forms of social media — mainly YouTube, said Deb.
“This year, I’m thankful for my brother’s health and for the treatment available to him through the Precision Medicine Program,” Kristin said in a YouTube video posted on Nov. 25. “We’re hopeful a preventive measure for those carrying the ALS gene mutations will be found and that Dustin will lead a full, healthy life.”
Officials at ALS TDI say those performing the study are fully engaged in finding treatments, a way to slow the progression of illness’ symptoms and a cure.
“Because ALS manifests differently among people living with the disease, the scientists at ALS TDI suspect that there are different forms of ALS. As such, they are working on (this) aggressive study that aims to identify and characterize subsets of people living with ALS and in turn, screen drugs that may be beneficial to the subsets,” said Ms. Hochstatter. “The Quinns are a familial gene mutation ALS family—they can trace ALS in their family back 13 generations. ALS TDI will test thousands of drugs against their specific disease.”
Even though the Ice Bucket Challenge is long over, and testing and treatment for the Quinns has begun, there are still others who need help.
“If you know an ALS patient/family in your community reach out to see if they need a helping hand from time to time,” said Deb.
She also encourages the public to continue supporting ALS research by donating to ALS TDI through the website ALS.net.