RYAN Hultman recalls an analogy shared by a fellow parent of a child with epidermolysis bullosa: "It's like trying to keep a sandcastle on a beach together with the water coming in," the North Vancouver resident says.
Ryan's daughter Raquel, 19 months, was born with recessive dystrophic epidermolysis bullosa, one of a group of rare genetic skin disorders that, through even the gentlest friction, results in severe blistering. Due to the fragility of their skin, young EB patients are internationally known as butterfly children.
"It adds up, it adds up and it adds up," Ryan continues. "Every wound she gets is a problem probably further down the road."
EB is incurable and treatment is focused on the prevention of new blisters and the management of existing to avoid infection, speed healing and minimize pain. The disorder presents a host of challenges to families and health-care practitioners working to ensure affected individuals have a positive quality of life.
While realistic about the challenges their young daughter will continue to endure, Ryan and his wife, Renata Hozova, maintain a strong sense of hope for the future. This is important for their own family unit and something they're interested in instilling in those likewise impacted by the devastating disorder.
. . .
Raquel has just woken up from an afternoon nap.
Her light hair is slightly dishevelled and her big blue eyes, the colour emphasized by the purple sweat suit she wears, warily take in the scene around her.
"'I don't think I'm supposed to be awake yet,'" Ryan, 40, says, interpreting his daughter's furrowed brow.
Grogginess eventually gives way to play. Raquel's hands, wrapped in preventative bandages, actively reach for the multitude of books and toys around her. A steady stream of chatter and laughter follows as aspects of her burgeoning personality are expressed.
Raquel enjoys the time with her dad, an architectural designer, and nurse Amanda, continually offering hugs. She anxiously awaits the return of: her big sister Cordelia, 6, from school, "Coco?" she asks; and, of course "Mama?" who resumed work last month at Providence Health Care.
The Hultman/Hozova clan are your typical, active North Shore family. Raquel's grandpa drops by to say hello and later a neighbour and his son knock on the door, inviting Cordelia for a bike ride.
These moments of calm are not taken for granted.
"There's lots of tough times, but then there are times when she is so great," says Renata, 41. "Like over Christmas time, suddenly there was two weeks when she behaved like a 'normal child'. . . . Those good times always get you through."
. . .
There was no indication that Raquel had any health problems during pregnancy. But when she was born at Lions Gate Hospital, she had no skin on her legs and feet from the knees down, the areas raw and bloody.
"The whole epidermis had been rubbed clean off and it was right down to the dermis, the second layer of the skin," says Ryan.
Luckily, the doctor present was familiar with EB and Raquel was immediately admitted into the neonatal intensive care unit. Within a couple of hours, she was transferred to B.C. Children's Hospital, where she remained for the next month.
"It was very difficult," says Ryan.
During the first four days of her life, it became shockingly apparent just how severe Raquel's EB was.
"Any time you touch her or you pick her up, you can create blisters," says Ryan.
The use of standard medical supplies caused further damage. For example, tape used to keep a feeding tube in place left exact square wounds on her belly and a bandage dressing change on her hands had catastrophic results.
"Basically all the skin on her hand just dripped off like a wet latex glove," says Ryan. "It just completely fell off. There was no skin left on her hands. From that point on, the third to fourth day, we were given many of the materials we still use on her dressings now. If we don't do those things or keep to protecting her hands and feet, they're just always going to be losing skin."
. . .
Early in Dr. Elena Pope's medical career, she looked after some patients with very severe forms of EB and has since dedicated her career to treating and researching the disorder.
She currently serves as head of the section of dermatology division of pediatric medicine as well as medical director of the specialized EB clinic at The Hospital for Sick Children in Toronto, Ont. She's also an associate professor of pediatrics at the University of Toronto. Most of her clinical research is in the area of orphan and rare diseases and their significant impact on patients and families.
According to Pope, EB is a genetic condition that can be passed from one generation to another, or skip a generation. A genetic mutation, patients' bodies are unable to produce a protein (14 have been isolated) required to keep the layers of the skin together.
"As a result, the skin is very fragile and with minimal trauma, you get the blistering," she says.
There are three different sub-types of EB, ranging from very mild (sensitivity to footwear or at certain times of the year) to extremely severe (with significant body surface area involvement and scarring). For these patients, the mouth can also be affected, requiring use of a feeding tube.
Simplex is the most common sub-type of EB and the least severe; patients have a normal lifespan.
The second sub-type is junctional, with herlitz EB part of the group. Those diagnosed with junctional herlitz EB usually die in the first few months of life, secondarily due to blood loss and severe infection.
The third EB sub-type is recessive dystrophic and sees a lot of body surface area involvement and scarring. "Affected patients have a high risk of dying from squamous cell carcinoma, which is an invasive type of skin cancer," says Pope.
It's estimated there are approximately 20 cases of EB per one million births and at any given time there are eight per one million people affected with the disorder. There's an estimated 2,000-3,000 cases at any given time in the United States and half that in Canada - approximately 1,500.
"The reason we don't have exact estimates is because the least severe sub-type usually doesn't get recognized," says Pope. "People just assume that they have fragile skin and that's the end of it. In addition to that, there are very few physicians who know about EB."
In addition to the prevention and management of blisters and resulting pain, treatment also involves looking for complications - low-blood count, anemia and heart involvement included.
A diagnosis with EB has a significant impact on families, says Pope. Caring for the patient's skin can take hours, which affects their quality of life as a family, other siblings, marital satisfaction and employment. Studies show there's a higher risk of mental illness among families caring for a child with EB - including depression, anxiety and sleeping problems.
"The reason there is no cure right now is first of all it's a very small population of patients, therefore a lot of the research funding is not justified or at least it's very hard to secure funding to be more successful with some of the research endeavours," says Pope. "The second thing is because there are multiple proteins it's very hard to target all of them. So, most of the treatments that have been tried so far are aimed at trying to correct the more severe sub-types of EB."
That said, a lot of progress has been made in the last 10 years and there are three types of therapies in various stages of clinical trials in the United States and Canada. The first is gene therapy, which involves replacing or modifying cells to produce the missing proteins. The second being investigated is the injection of the missing protein and the third is a bone marrow transplant, replacing it with stem cells that will become the missing proteins.
The third has come closest to yielding positive results.
"But it's just the beginning of the journey. There are a lot of unanswered questions," says Pope, adding for example, what are the long-term effects and who would best benefit.
"I think in the near future we would be able to offer a cure, and I think our job is to keep the affected children as healthy as possible so they are able to sustain the rigour of some of those treatments that are going to become available," she says.
Pope believes increased awareness of EB is needed. More advocacy at the government level could equate to increased research dollars, helping expedite the discovery of a cure.
"It is one of the most severe diseases that we encounter in medicine but, because of its rarity, research funding hasn't been appropriate so there's a lot we can do as a community to increase awareness," she says.
The EB families she meets continue to inspire her, says Pope.
"It's amazing how much they can actually accomplish in any given day and how great they are at coping with such a devastating disease. . . ." she says. "I would say not losing hope, surrounding yourself by community or family members who provide the support that you need and also surrounding yourself by practitioners - physicians or other health care professionals - who know about EB is very important because that will ensure that the child that is affected gets the best care possible and the family gets the support that they need."
. . .
When Raquel first came home from the hospital, Renata found herself, in the early days, scared to change her diaper or hold her even, out of fear of inflicting a wound.
"When she was born I had a very hard time dealing with what happened," she says. "It took me a while to adjust."
There is no history of EB in either of Ryan or Renata's extended families. Cordelia is also perfectly healthy. Following Raquel's diagnosis, they discovered the disorder had been recessively passed down, a one in four chance if both parents have the same gene, says Ryan. While Renata was discovered to be a carrier, Ryan wasn't.
"So the probability is like off the charts small, so it was really unlucky," he says.
Raquel has a more severe form of EB, affecting her skin and gastrointestinal tract (she's primarily fed through a gastrostomy tube). All other aspects of her health, including her cognitive development and immune system, are unaffected. She has a team of doctors looking after her, including a pediatrician, plastic surgeon, ENT, dermatologist, a pain management group and a doctor overseeing her nutrition. She takes a variety of painkillers, both over-the-counter drugs, and small doses of morphine.
Her hands are preventively bandaged at all times.
"If we don't bandage her hands, the skin eventually, like a duck, moves out and then her hands become clubs," says Ryan.
Dressing changes occur every second day and can be extraordinarily painful. The family receives bandages and other medical supplies, and is supported with in-home nursing care through Bayshore Home Health and Vancouver Coastal Health's North Shore Home Support, covered through provincial and employment health plans.
"Physically and mentally you just can't do 100 per cent of the time, it's just not possible, and that's why we need the nursing care. It's been our lifesaver to cope in a marriage as well," says Ryan.
Those involved in caring for Raquel remain hypervigilant at all times. Picking her up, diaper changes and dressing her each have their own set of challenges as the most innocent incident can make a huge impact. For example, three weeks ago, Raquel took a minor stumble, typical for a toddler learning how to walk.
"She got a big mark on her head," says Ryan. "I'm pretty sure she'll never grow hair back there again."
Raquel was also recently playing with her mother on the couch, doing "this little daredevil thing that we can't get her to stop doing," says Ryan. She fell forward and when Renata grabbed her, she grazed her lip, resulting in a huge blister.
"It just happens so fast and it takes nothing," says Ryan.
This makes it difficult for Raquel to play with any other children besides her sister, because they're simply too young to understand the level of care required.
Raquel continues to inspire her parents. "She's exceptional," says Ryan. "I think her character, she's a fighter for sure."
. . .
Gena Brumitt's mother, Pat Barbrey, passed away in 2000, at age 65.
"From my perspective that seems too young, but from her perspective, I've never known a person with recessive dystrophic EB hallopeau-siemens, which is what she had, who lived that long," says the London, Ont., resident.
Her mother's strength was incredible, says Brumitt. "My mother was a tiny little thing - four-foot-11-and-a-half and about 75 pounds her whole life and she had three EB-free children," she says.
Brumitt has long taken an advocacy role for EB patients. Originally from Maryland, she moved to Canada 20 years ago and since 2006 has been involved with DEBRA Canada, a national non-profit organization based in Ontario focused on supporting families affected by EB. Brumitt currently serves as president as well as director of awareness and education. She's the vice-treasurer of DEBRA International and regional envoy of its EB Without Borders committee. She's also the founder of International Epidermolysis Bullosa Awareness Week, marked annually in October.
"When I first got involved with this, it used to be that most of the organizations really focused on 'most people with EB don't survive beyond the age of 30,'" says Brumitt. "I just thought that was such a poor message to a young person of 15 or 20. . . . Yeah it's great for bringing in donations, but it's not so good for helping them to have a good mindset as they become a young person who's growing up and dealing with this illness to think of themselves as a victim."
Brumitt has made quality of life for EB patients her mission. DEBRA Canada (an acronym for Dystrophic Epidermolysis Bullosa Research Association) operates a medical support program and helps EB patients obtain things not covered by their respective health plans.
"With EB there are many associative costs and often times families just can't do it on their own," says Brumitt.
They've helped provide bandages and other wound-care supplies, air conditioners, dehumidifiers, laptops, special hot tubs, adapted driving lessons, dental surgery and an assistive dog.
DEBRA Canada is working to expand its services. "We're a national organization and I'm sure that we have only reached a very small percentage of people who have EB in the country," says Brumitt.
They're working to get a full picture of what's offered to EB patients as government financial and medical assistance varies in each province and territory.
"We know that there are patients out there that don't have any kind of support nearby," says Brumitt.
DEBRA Canada is also conducting outreach to dermatologists and neonatal units across the country, looking to provide staff with EB care guides to prevent improper care, as well as guides for parents to take home. The organization is beginning to support EB research efforts and is proud to be hosting the 2012 International DEBRA Conference in Toronto, Sept. 13-16. Brumitt and Pope are serving as co-chairwomen.
"We're especially wanting to bring as many dermatologists and specialists as possible to Toronto so that they can get EB experience," says Brumitt.
Community members are invited to get involved with DEBRA Canada, either by making donations or volunteering, or most importantly, sharing information.
People can have misconceptions regarding EB patients due to the visibility of their wounds, mistaking them to be the result of a fire, car accident or some form of abuse and that they may be contagious. These misconceptions can cause further hardships for affected families. "I think that if people just learn about it, educate themselves and tell other people, it creates a type of awareness that can beget lots of things," says Brumitt.
"My mom used to have a saying, 'the squeaky wheel gets the grease,' and that's gotten me where I am and gotten me a lot farther than I'd ever thought I would go in creating outreach for EB," she adds.
. . .
Ryan and Renata are incredibly grateful for the support they've received since their daughter's birth. From food preparation by friends and family, to baristas at Moja Coffee who've donated tips to DEBRA Canada, to donated clothing from Victoria-based Dermasilk Canada and Italy's Alpretec, they've been continually overwhelmed.
Now Renata and Ryan are interested in giving back. Ryan maintains a blog (raquelhultman.blogspot. com) and connects with other EB families. He also serves as DEBRA Canada's family liaison for the medical support program and hopes to one day become a board member.
Ryan attended the 2011 International DEBRA Conference, held in the Netherlands in October. There, he met some young adults with EB and was struck by their inner strength and list of accomplishments.
"Of course it's life-limiting but it's not spirit limiting if you don't want it to be and if you have the right framework around you to keep you going on the right path," he says. "In that way I was quite uplifted to see it and realizing that we have a way of fighting it."
An additional source of support for Ryan and Renata is a local man they've recently befriended, Moe Tapp, a 25-year-old North Vancouver resident born with junctional non-herlitz EB. As far as they know, Raquel and Tapp are the only two EB patients on the North Shore.
Tapp, who is also unaware of anyone in his extended family who had EB, spent the first two years of his life in B.C. Children's Hospital.
"They did not actually expect me to live because especially back then . . . not a lot of people in particular with my severity of it, lived past the age of two," he says.
A Capilano University graduate, Tapp works as a special education assistant at St. Thomas Aquinas, his alma mater, and hopes to one day become a sports reporter.
"To be honest, when I lived my life as a kid - whether it was a kid or a teen, yes, I knew I always had the disease and I knew what the pain was - I wasn't really fully aware," he says. "I just lived as a kid. I would do everyday stuff that kids would do or teens would do - mostly," he laughs. "So I'm a lot more aware and becoming much more of an advocate as I'm getting older. And meeting Raquel, realizing that there's someone else out there now with it, there's a bit of that bond."
Tapp plans to attend the 2012 International DEBRA Conference with Ryan.
Among the most difficult aspects of his EB is the associated pain, both emotionally and physically, and its restrictiveness.
"I'm always going to need someone to look out for me," says Tapp. "Right now, that's always going to be family."
He currently lives at home and maintains a strict schedule. Dressing changes and baths occur every two to three days and can take four hours or more dependent on the severity of his blisters. Like Raquel, he has in-home support from staff of Bayshore Home Health and VCH's North Shore Home Support.
EB has prevented him from engaging in certain activities, like contact sports, and impacts his choice of occupation, both the nature of the job, as well as requiring him to always work somewhere with a good health plan.
Tapp is grateful for his local family and friend community, and keeps in touch with other EB patients he met when he was younger, the result of attending a camp in Minnesota put on by the American Academy of Dermatology.
"My message to those also living with (EB) - either directly having it or knowing someone intimately with the disease - out there all over the world would be simply live the way you know how and see fit to your own life," says Tapp. "One with EB can still live a relatively normal life, albeit with certain - and in some cases many - restrictions and adaptations, but never let it get in the way of your hopes and dreams. . . . One who has EB - or again, is acquainted closely with someone with EB - learns that it is their life, but should not let it defeat their lifestyle. Continue to live the way you want to each and every single day."
For more information on EB and DEBRA Canada, visit www. debracanada.org.
© Copyright 2013