CHATHAM – Steve Kubik will be happy to talk to fellow boaters about the unique flag he'll be flying this summer on his Cape Dory 26 in Stage Harbor. The flag displays the logo of the EB Research Partnership, a nonprofit dedicated to funding research to treat and cure a rare genetic disorder, Epidermolysis Bullosa.
Kubik's granddaughter Elodie was born with the affliction; her skin is so sensitive that the slightest touch can cause bruising or cutting. Kids with EB are known as "Butterfly Children" because their skin is so delicate.
The affliction is so rare – only one in 20,000 babies are born with it, about 200 a year in the United States – that the nurses at the hospital in Greenwich, Conn., where Elodie was born were unaware of it. They became aware that something was wrong when the skin around her feet came off when washed right after her birth in July 2016. A few hours later, she took her first ambulance ride to Yale New Haven Hospital, where there were medical staff familiar with the disorder.
“It's so rare they don't even bother to test for it,” said Kubik. Both his son David and his wife Emily had the recessive gene that results in a defective protein which interferes with bonding between skin layers. There are some 18 forms of the condition with symptoms ranging from mild to severe. In most cases, children with EB must constantly wear bandages and be wary of any sort of rubbing or abrasion to the skin.
Elodie's bandages must be changed twice daily, said David Kubik, and it can be a painful process. But once that's done, they try to keep her life as normal as possible.
“It doesn't really hold her back,” he said in a telephone interview from the family's home in Connecticut. “She's perfectly happy, she laughs, she plays.” She goes to the park and to physical therapy classes. “We've tried to let her do as much as possible, but obviously there's limits.”
David and Emily connected with other parents of EB children for support and advice, but each case is different, David said. “A lot of this is definitely trial and error, us just figuring things out.”
“It's been a learning experience for the parents,” said Steve Kubik. “They have to educate all the people who interact with her.” Elodie can't be lifted under the arms, for instance. Blisters that develop on her skin from contact have to be treated immediately to avoid infection. “It's pretty grueling,” he said. Fortunately the couple found a nanny who was willing and able to learn how to care for Elodie. That has allowed them to continue working; David is an architect in New York City and Emily works for a private equity company close to their Greenwich home.
“She's been able to do a phenomenal job, and it's enabled us to keep a somewhat normal lifestyle,” said David.
The couple is also heavily involved in fundraising for EB research. David ran in the New York City half marathon and Emily the full marathon as part of a team put together by the EB Research Partnership. A group of Emily's friends from Wellesley High School, spearheaded by Kristin Fletcher, organized a polar plunge in that town last March that raised $140,000. The women were able to raise the event's profile – and bottom line – through their friendship with classmate Jessica Beal and her husband Justin Timberlake. Their participation helped the event gain wide publicity, David said.
The family has long-time Cape connections. Steve Kubik's parents built the home he and his wife Sharon now live occupy in Chathamport, and the family vacationed her for many years. Sons David and Bryan learned to sail here. Emily's family also has a home in Harwich, although the couple didn't know about the Cape Cod connection when they met in New York City, David said.
There is no cure for EB, and people with the condition have an average lifespan of about 30 years. But because the genetic mutation is known, research into gene therapy is promising, said David.
“It' a singe-gene mutation or defect, so in some ways it's a lot less complicated jigsaw puzzle to solve,” he said. A number of trials are ongoing at Stanford University School of Medicine's Department of Dermatology – where the family visited recently – and other institutions. Elodie is not involved in any of the trials because she is too young, he said. A few of the trials are getting fast-tracked by the U.S. Food and Drug Administration, which he hopes will lead to treatments in the near future.
“It's realistic to think that by the time she goes to grade school, there will at least be some kind of treatment” to improve EB sufferers' qualify of life, “if not a cure,” David said.
“Step one is awareness,” he added, “two is cold hard cash.”
Awareness is Steve Kubik's goal this summer by flying the EB Research Partnership flag.
“I'm hoping to generate that little 'what's that?' curiosity to raise awareness and spread the word,” he said.
For more information about Epidermolysis Bullosa and the EB Research Partnership, visit www.ebresearch.org.