Fundraisers hope to eradicate rare disease
By Joyce DeWallace, Contributing Writer
Westborough – Joseph Marino is 5 years old – a rough and tumble kid, according to his mother, Corrie. He has a special friend named Ryan, who's a year younger. The boys met on the first day they attended preschool over a year ago and became buddies. But playing with Ryan requires special skills. Joseph has to be careful not to touch Ryan and to be extra gentle because Ryan was born with a skin condition known as junctional epidermolysis bullosa (EB).
EB is an extremely rare genetic disorder that is characterized by the lack of a protein vital to maintaining the integrity of skin. People with this condition can have skin break down with the slightest touch. Any trauma, friction or pressure typically results in blisters, which become open, raw wounds that can be painful.
“Right now, there's no cure for EB,” Corrie said. “Ryan has taught us so much; he's taught us not to take each day for granted. My hope is that my own two boys will remember this lesson of being kind, caring and compassionate.
“Because our sons have become such good friends, Ryan's mother, Denise Summers, and I have become close friends. Denise decided to raise money to help find a cure. In March, she's going to run a half-marathon in New York City on a team organized to fund EB research.”
Although Corrie is also a runner, she decided instead to organize a local fundraiser to help her friend.
From 1 to 3 p.m. Saturday, Feb. 4, Corrie is partnering with Tatnuck Bookseller to sell Cookie Lee jewelry. One hundred percent of the profits will be donated toward sponsoring Denise's run. The jewelry is priced under $50 and all proceeds will go toward research trying to find a cure for this painful and life-threatening disorder. Corrie's goal is to raise $2,000.
“I love fundraising, and nothing brings me greater satisfaction than helping a worthy cause,” Corrie said. “I have two healthy kids, and doing this work for the fundraiser is nothing compared to what Denise and her husband, Steve, face every day.”
Denise has been training for the marathon by getting up at 5 a.m. and then going to the gym or outdoors for a run. Once a week she tries to get in one long run of 10 to 13 miles. Ryan's condition requires extensive care and many medications, so she has to squeeze in training when her husband is home to take care of their son.
On her website, Denise explained, “Our daily routine with Ryan is quite unconventional. Dressing changes and wrapping of Ryan to prevent wounds and blisters can sometimes take an hour at a time. Diaper changes also mean that dressings have to be changed and the process can take 15 minutes to half an hour. This has become our new normal.”
Ryan's skin becomes extremely itchy and needs to be gently rubbed with special cream. He must sit on soft protective pads. Being outdoors presents challenges like corneal abrasions and blistering.
Despite his serious health issues, Ryan is a mellow youngster who responds well to challenges and his grueling daily routine. With a happy smile, he explained, “Joseph is good to me. We like to play garbage trucks.”
Denise added, “School has been wonderful. The social piece is what I really like about it. The most difficult part is dealing with the problems of health issues. That can be really scary.”
In order to attend the preschool at Hastings, part of the Westborough Public School System, Ryan needs a one-on-one nurse and special training for the staff.
Currently there is no cure for EB. Research is being done with stem cell transplants and a possible new treatment. Corrie and Denise want to contribute as much as possible to the ongoing work of the Jackson Gabriel Silver Foundation, an organization founded in 2010, that directly funds physicians who are doing the most pertinent EB research. Since its beginning, the Foundation has donated over $300,000 to the cause.
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