This week’s Member Spotlight features Charity Miles member Mario Estevez! Hailing from Southern Florida, Mario’s life was changed forever when his son Sebastian was diagnosed with Hunter Syndrome two years ago. Mario, along with several other proactive parents throughout the country, are working to raise money for their nonprofit, Project Alive, in hopes of funding a gene therapy clinical trial that researchers believe will cure affected children. We had the opportunity to chat with Mario who discussed Hunter Syndrome, Project Alive, the cure, and how he has been using Charity Miles as a force for good!
Hunter Syndrome is a rare, terminal genetic disease that affects almost exclusively boys, as it is an X-linked condition. Affected children lack a particular enzyme needed to break down waste at the cellular level. This directly results in the buildup of various types of sulfates in body tissues, which typically prohibits one’s organs from functioning properly. About 85 percent of boys will perish before their 15th birthday. With fewer than 500 diagnosed cases in the US and only 2500 cases worldwide, it is incredibly difficult to secure funding for Hunter Syndrome research. “After our son Sebastian’s diagnosis, we joined forces with a group of parents from around the country through Project Alive to fund the cure.”
The current treatment for the disease is enzyme treatment therapy. Each week patients receive a synthetic version of what their bodies are unable to produce. This slows the physical deterioration, but not the cognitive decline, and the children continue to suffer nonetheless. Gene therapy has proven successful in curing a number of serious genetic issues. In 2014, 15 kids with a terminal genetic condition called Spinal Muscular Atrophy (SMA) were enrolled in a clinical trial involving gene therapy at Nationwide Children’s Hospital, which yielded incredible results. Most children who are born with SMA perish before their second birthdays or fall into a vegetative state, relying on machines to keep them alive. However, all of the children treated with gene therapy in this trial are alive showing signs of a bright future!
Now, Mario and other parents across the country are pushing to fund a similar trial that could save their children! “Researchers at Nationwide Children’s Hospital in Ohio have developed gene therapy for Hunter Syndrome and are now ready to go to human trials. They say it’s a cure in animal models, but because this condition affects fewer than 500 children in the United States, there is little funding available for such a trial. As a result, the parents in our community set out to raise the 2.6 million dollars necessary to bring this to trial, and hopefully save our children. 2017 and 2018 were big years for us. We received approval for our investigational new drug (IND) application through the FDA, which gave us permission to begin the trial! We signed a $1.4 million contract to begin manufacturing the virus vectors for the study and paid the initial deposit. And somehow through bake sales, car washes, grants, and donations, we have raised almost $2 million! We need to raise the remaining $.6 million as soon as possible to be ready to go to trial as scheduled. ”
The gene therapy funded by Project Alive will not get passed on to offspring, but it is a one-time infusion that can be considered a cure. If parents are able to secure the remaining funds, this trial would treat 9 boys at Nationwide Children’s Hospital in the first quarter of next year.
“As you can see by the developments over the last two years, we aren’t sitting idly by, waiting for a handout. We have been working tirelessly to ensure that Sebastian and his friends will have a chance at life. But with each passing day, these kids are losing skills. We need this money as soon as possible!”
In an attempt to raise the remaining $600,000 Project Alive has launched a large-scale fundraising event, a bike ride from Charlotte, North Carolina to Fort Lauderdale Florida. Covering four states and 1200 miles in a mere 3 weeks is a tall task, but one that will bring Project Alive one step closer to securing the necessary funds. Beginning on October 20 and finishing on November 11th, this ride began just a few days ago. A core team of riders will ride the entirety of the 1200 miles, but individuals have the option of participating in weekend rides between key cities. Each weekend will also see Hunter Syndrome families at the daily finish lines in key cities along the route. Mario and his wife will be riding the final 150 miles of the journey from Fort Myers to Fort Lauderdale/Pompano Beach, FL.
Relating to Charity Miles, Mario has been using the app for over the last year. “We heard about Charity Miles through a friend in our organization. We chose the app because we wanted to be able to do good for our community while accomplishing personal fitness goals.”
“It is incredibly frustrating as a parent to know your child is dying of a disease doctors think is curable. We would be so grateful for anyone who donates or joins us on our fundraising journey to help us save our son and others like him. I’m not a professional fundraiser, just a father trying to save my son’s life. And I believe that if people truly understood how close we are to curing this fatal disease, they would want to help us.”
If you’d like to meet some of these incredibly brave children living with Hunter Syndrome or simply learn more about Ride for Project Alive, you can go to ProjectAlive.org.
Do you have an interesting Charity Miles story? Share it with us!