MINNEAPOLIS - The FDA just recently approved the first gene therapy available in the United States for childhood leukemia, ushering in a new frontier in medicine to reprogram a patient's own cells to attack a deadly cancer.
The breakthrough is also bringing a long-awaited promise at the University of Minnesota for children undergoing treatment for rare, life-threatening diseases.
An estimated 20 families whose children have undergone blood stem cell transplants for rare metabolic diseases, have joined together to launch a crowdfunding campaign to help U of M doctors research safer, more effective therapies, including new gene therapy that could bring life-saving impact for their children.
Andrea and Ryan Shaughnessy, from the Traverse City, Michigan area, have been at the University of Minnesota Masonic Children’s Hospital for nine months, as their son, Anderson, 2, underwent two blood stem cell transplants for Hurler Syndrome.
The rare genetic disease, affecting 1 in every 100,000 children, occurs when the body has a defective gene and as a result, cannot make an important enzyme. Children with Hurler’s Syndrome have a life expectancy of 5 to 10 years old.
“Time is not on our side, the more we can do earlier on, the better off it is for his long-term survival and development,” said Andrea Shaughnessy. “If we could help keep anybody else from living in our shoes because it is so hard, you know it might not be able to directly impact the help Anderson needs today, but it doesn’t mean that we can’t help others so they can have a better outcome and life expectancy tomorrow.”
The Shaughnessy family made the second donation to the crowdfunding campaign, called the Pediatric BMT Metabolic Program Research Fund.
“I think it’s really inspiring they are doing this,” said Dr. Weston Miller, a U of M pediatric blood and marrow physician overseeing many blood stem cell transplants. “Research is expensive and really driving novel therapies and improving on existing therapies takes time and money.”
Dr. Miller noted the lack of research and development for rare diseases, and said the gene therapy reduces the health risks associated with undergoing and surviving blood stem cell transplants.
“Really the unifying theme of all these novel therapies is going to be make it safer and more effective,” said Dr. Miller. “So, what we of course wish and hope for is we can find a way to have effective therapies and look Mom and Dad in the eye, and say there is closer to 100 percent they will be walking out of here.”
The families – from across the country and world – have a goal to raise $1 million to fund research projects that might otherwise never make it to the laboratory.
“We are pretty proud of this team and we know they can do it, it’s amazing the tenacity they bring,” said Andrea Shaughnessy.
The crowdfunding page details their plea for support.
“They have helped countless families from all around the world navigate the uncertainty of a life-threatening diagnosis and make heart-wrenching decisions. They go above and beyond, whether it is Google translating an email to correspond with parents in other countries or wearing a Minions shirt. They have revolutionized the way the diseases are treated, drastically improved the quality of life for many of their patients, and given families hope.”