Imagine your skin is so fragile that just rubbing it causes it to blister. And not just the skin you can see. Eating can cause the skin in your mouth and throat to blister as well. Sounds terrible, right? This is what life is like for people with epidermolysis bullosa (EB), a group of rare diseases that is usually inherited.
Children with EB are called “Butterfly Children” because their skin is so fragile, it can be compared to butterfly wings.
Silvia Corradin, a 50-year-old California mother, knows this life all too well because her son Nicky was born with the recessive dystrophic form of EB. He wasn’t the first of her children to be affected, though.
The day before the due date of her first child, Alex, Silvia noticed he stopped moving in the womb. Alarmed, she went to see her doctor, who was unable to detect Alex’s heartbeat. She then had to go through the most emotionally devastating event of her life – delivering her stillborn son. At the time, the doctor thought his death may have been a result of a tangled umbilical cord. It was only after Nicky was born a few years later that they realized it was actually related to complications from EB.
After about six months of grieving and healing, Silvia and her husband decided to try again, only to have that pregnancy end in miscarriage eight weeks later.
“That threw me for a tailspin,” she says. “The timing was so awful because I was still grieving for Alex.”
Shaken and nervous about their prospects of having a child, they decided to wait another six months before getting pregnant with Nicky in March, 1997.
“The pregnancy went well,” she explains. “I love being pregnant. I feel like I was born to be a mother. I didn’t get sick at all. But I was still so scared about going full term after what had happened with Alex.”
Although her due date wasn’t until mid-December, Silvia’s doctor induced labor on November 25th at her request. Nicky was delivered via c-section, so at first he appeared to be perfectly healthy. However, when the nurse cleaned the inside of the baby’s mouth, she noticed a large amount of skin had rubbed off on her gloved finger.
Concerned about what this could mean, the doctor performed a common test for EB: placing a pencil eraser against his skin and twisting gently. Sure enough, the skin rubbed right off – a clear sign Nicky suffered from the disease.
“When the doctor first told me, I was still recovering from the C-section and was a little doped up on pain killers,” Silvia recalls. “There was nobody there with me and I was very disoriented.”
She later told her husband about it and he did some online research about the disease. What he found was not encouraging.
There are several types of EB, each determined by where the blisters form in the layers that make up the skin, a direct result from abnormalities in the genes responsible for specific parts of skin formation. Dystrophic EB, which Nicky has, is related to a flaw in a gene that leaves him unable to produce a type of collagen that allows the skin layers to join properly. This makes the skin terribly vulnerable to abrasion, which causes blisters and open wounds.
These wounds can leave scar tissue when they heal, and in areas like hands and feet that blister often, the layers of scar tissue can cause fingers and toes to contract and even fuse together through webbed skin.
As awful as the blisters themselves are, the more serious problem is the risk of infection. Bacteria can easily get into the wounds and lead to sepsis, a massive infection spread through the bloodstream that can be fatal.
Another major threat for people with EB is an increased risk of developing a type of skin cancer called squamous cell carcinoma.
Less than 48 hours after giving birth, these were the things Silvia was thinking about. “A few days later, the doctor talked to us and told us Nicky probably wouldn’t live to see his first birthday,” she says. “I felt like such a failure as a mother.”
Nicky had to stay in the intensive care unit for about a week before going home. For the first month, a nurse came to their home once a week to teach Silvia and her husband how to bandage him and care for his blisters.
“She brought her own bandages, but after that, we were on our own and insurance wouldn’t cover the full cost of the bandages, which are very expensive,” Silvia explains. “Even paying just 25% of the cost quickly depleted our savings.”
The financial pressure only increased when Silvia had to leave her job to take care of Nicky full-time because his condition was too much for babysitters to handle. The family had to sell their house, cars, and other possessions in order to make ends meet and pay for Nicky’s medical care. Consider this, how much does it cost to raise a child that is medically healthy? Now imagine having to multiply that by an unfathomable number due to the medical condition the child suffers from.
There were bright moments that kept them going. About a month after Nicky was born, a knowledgeable dermatologist examined him and explained that Nicky actually suffered from a different, less severe, form of EB than they had previously been told.
“It was good news, but I was still mad at the other doctor who told us he wouldn’t live to a year,” recalls Silvia.
These are people who should really know what they are doing, and instead, the only thing they told her was that Nicky wouldn’t live longer than a year and yet how wrong they were. This isn’t that an uncommon occurrence though, doctors make mistakes, which can ultimately lead to something going horribly wrong. This is why medical malpractice lawsuits are unfortunately becoming increasingly common. So much so, that there are even lawyers who are doctors who are better equipped to help someone with a medical malpractice case.
At least, in this case, the wrong diagnosis didn’t cause a serious problem to Nicky.
Over the course of Nicky’s first year, the family went to see many different kinds of doctors but none of them could offer them any information beyond what they already knew. They finally found their way to Stanford University, the only EB clinic in the country at that time.
“That’s when we finally got answers,” says Silvia.
“That’s the only place we went after that, to a pediatrician at Stanford.” This required the family to move to California, which they were more than willing to do.
Although they were finally able to get Nicky the best care available, finding other people to talk to for support proved much more difficult. “The internet wasn’t what it is today, so it was hard to find other families. Plus, there are three different types of EB, and the treatments are very different,” she explains.
Determined to find a solution, Silvia decided to start her own website for people with EB to connect. She explains how it came about:
“Every time I found information, I would add it to my website and that’s how other parents started finding me. I was able to meet moms from so many place – Australia, the Netherlands, even Afghanistan. I’ve made some of my best friends from all over the world because of the website. It’s been really wonderful exchanging ideas and talking about what works.”
Silvia would need that support in the years to come, which were filled with many difficult events. At just two years old, Nicky’s fingers had already curled up towards his palms and grown together from all of the scar tissue that accumulated between them. It required surgery to separate them and then Silvia had to bandage them tightly but gently every day to keep them from reverting back right away. He would repeat this surgery five times over the course of the next 16 years.
By the time he was three, Nicky was much smaller than a normal child and didn’t show signs of continuing growth. The main problem was that the physical act of eating was very rough on the skin of his mouth and esophagus. To address this, he had to have a gastrostomy tube (also called a G-tube) inserted through his abdomen to deliver adequate nutrition directly to his stomach.
What’s it like raising a child with Epidermolysis Bullosa? Read one mother’s story. #butterflychildClick to tweet
Although that helped him grow, eating would remain problematic for Nicky because of the scar tissue that continually builds up in his esophagus due to abrasions from swallowing. Clearing the obstruction requires doctors to insert a tube into his throat and inflate a small balloon to stretch the esophageal tissue. He’s had to repeat this procedure about 20 times in his life, sometimes more than once a year.
“Our biggest concern is infection so I’m constantly researching ways we can reduce the risk,” says Silvia. “I’m a big believer in natural remedies because I don’t want to use antibiotics if I don’t have to. If you use them too much, they lose their efficacy and we could be in big trouble if he gets infected.”
Despite the struggles, Nicky has surpassed many people’s expectations. Turning 18 next month, he’s poised to graduate from high school. Although he could walk when he was younger, he now gets around with a power chair because the skin on his feet is so fragile.
Connecting with others on the internet has been a major part of Nicky’s social life, especially with people who share his interest in video games. In fact, he would like to get into video game design in the years following graduation.
For now, he’s excited to be a part of a clinical trial for a new EB treatment. Although he doesn’t even know what some of his online friends look like, one of them recently sent him a video greeting to wish him good luck in the trial.
Silvia urges people to learn more about epidermolysis bullosa and to consider donating to advocacy organizations like the EB Medical Research Foundation and the EB Research Partnership.
“Most people with EB don’t live beyond 30, but there’s still time for Nicky and all the other people living with this to be cured in their lifetime,” she says.
Her advice for other parents who have children with EB?
“Let them set their own limits – don’t hold them back. Nicky is more on the cautious side, but many kids don’t mind getting a blister as a tradeoff for riding a roller coaster. Enjoy them. It’s tough, but they can do it.”
To read more about Silvia and Nicky, check out her book Butterfly Child: A Mother’s Journey!