Epidermolysis bullosa: Patient describes life with rare skin-blistering disease

TORONTO -- What can you say about a girl named Mary? What can you say about someone barely out of her teens whose goal is to help others because she's had "experiences" with life-long pain? What can you say about someone who thanked each and every member of her surgical team after they amputated her leg?

What do we say about Mary Haddad?

Seeing her lying in a hospital bed recovering from the surgery, it's hard to believe this elfin patient with the child-like voice is 20 years old, until she describes -- without a trace of self-pity and a wisdom seemingly beyond her years -- what life has been like for her as a so-called "butterfly child."

Haddad was born with epidermolysis bullosa, or EB, a rare genetic disorder that causes her skin to blister and fall off, sometimes even with the slightest touch. The sores can turn into deep, ulcerated wounds, which may take months to heal and can be excruciatingly painful.

"Being touched, it was like surgery," she says, describing the pain as akin to having needles driven into her skin. Her parents were anxious every time they touched her "because I could get a blister or the skin would rip off." As a baby, she developed a huge, choking bubble of skin in her throat that sent her to the ER, and eating can still be difficult because of raw, open ulcers in her mouth and throat.

"Growing up as an EB person was really hard, like during all the procedures and the pain," she quietly concedes, lifting one of her impossibly slender arms, which are swaddled in mummy-like bandages. Her hands peek out, the tiny fingers curled under and webbed together with loose layers of skin, making it difficult to use her hands. She's had two surgeries to straighten out her fingers, but they have closed up again. The toes on her tiny foot are similarly affected.

"Yeah, it was painful," she says, shrugging it off with a smile, insisting she's learned to live with the discomfort.

An estimated 3,500 to 5,000 Canadians are born with EB, which can take three forms, from the mildest type that causes minimal blistering to the most severe, which also involves the internal organs and leads to death in early childhood. Haddad has dystrophic EB, the second most severe form.

"The dystrophic type is characterized by blistering that affects the entire body, making the patient like a burn victim," explains Dr. Elena Pope, director of pediatric dermatology at Sick Kids Hospital.

There is no cure for EB, although researchers are investigating stem-cell and gene therapies as potential future treatments, says Pope, who calls the disease devastating for both patients and their families.

Haddad also grew up with another kind of pain -- emotional -- as kids bullied her about her appearance.

"Elementary school for me was a roller-coaster because the kids are young, so they don't know as much. They were picking on me and saying, 'Ew, look at your hands! You don't have hands like us.' And they were doing barf sounds. It was horrible. I used to go home every day and cry." She was afraid to tell the teachers or her family -- she didn't want to be a "tattle-tale" -- so she kept quiet until her years at the school came to an end.

Most activities in gym class or extracurricular sports were out for Haddad, who couldn't risk falling and injuring her skin. But she didn't let that stop her, joining a hip-hop dance class. "They had some of those funky moves, and I'm like 'OK, I can do that,"' she says, clutching her cellphone, a baby doll named "Nour" next to her on the pillow.

Although shy, Haddad found high school kids more accepting and she slowly began making friends. After graduation, she began courses at Sheridan College, not far from her Mississauga home west of Toronto, to earn her diploma in social work.

She had completed one semester when she learned what every butterfly kid lives in dread of hearing -- she had cancer.

What appeared to be one of her usual blisters on the front of her right ankle had morphed into a huge wound, which a number of painful biopsies revealed to be squamous cell carcinoma -- a relatively benign skin cancer for anyone else, but fast-spreading and deadly for those with EB.

Her specialist said amputation was the only option to save her life.

"I was crying like crazy, and that night when I went home I was just praying to God, like 'Heal me now, just take it away from me, don't let this happen,"' says Haddad, who continued her silent entreaties that night at church.

"But, you know, that leg actually caused me lots of problems ever since I was a baby. It was horrible, it was like evil on my body ... sometimes I'd see a wound so deep, it's like a hole and it really, really hurt. I couldn't even change a bandage on it or touch it because it's like needles going in, and I couldn't stand it anymore.

"At the end, I was like just take it away, I don't care."

On June 12, doctors at Toronto's St. Michael's Hospital removed her right leg above the knee in an operation that took eight hours, including about two hours for the team to prep their delicate patient.

Plastic surgeon Dr. Karen Cross organized the team that would perform the operation, spending seven days with groups of colleagues to plan each step of the surgery; she even did a dry run at the Hospital for Sick Children across town, where Haddad had been treated through childhood and adolescence, in a bid to anticipate problems and avoid complications.

"You can't put a tourniquet on her because that would take her skin off," Cross explains about the challenges of taking a blood sample. "You have to protect her, so we wrapped her in cotton -- literally it looks like fluffy toilet paper -- and you have to squeeze her arm very gently to try to get the veins to come up to the surface."

Even the blood-pressure cuff had to be padded to prevent it tearing off her skin as the device inflated. The team also used a special padded gurney during the operation, and they sedated her through her spine to avoid IV needles in her arms or hands.

When Haddad came to after the operation, her first words stunned everyone.

"She woke up from the sedation and then looked at me and said: 'Thank you, Dr. Cross, for taking such good care of me.' And then she thanked every single person in the room," the surgeon says. "We just cut her leg off and ... she's sitting there thanking us!

"I've got to be honest, she choked me up," admits Cross, fighting back tears as she recalls how the diminutive patient touched all their hearts.

To hear Haddad tell it, her gratitude just made sense.

"I don't know, I guess I was too high," she laughs, her chocolate brown eyes widening with mischievous delight, before she turns serious.

"You know, I felt really happy when I woke up from the surgery and I felt this relief ... because it was like something heavy was on my chest when my leg was there, and I knew that I had cancer. So once they took it off, is was like, 'Oh my God, thank you."'

Cross says there hasn't been a day since that someone hasn't stopped to ask about her young charge. And what neither Cross nor her patient knew was that during the operation, chaplains and staff who had helped prepare Haddad for her operation were praying for her and the surgical team in St. Mike's chapel throughout the day.

"She has had such an impact on this hospital, on the people who have encountered her. And when people say, "What is it about her?' I just say, 'I don't know, there's just something about Mary.' I know it's from that movie a long time ago, but there just IS something about Mary."

Once discharged, Haddad will be transferred to a rehabilitation hospital, where a super-padded prosthetic leg will be designed for her to restore her mobility.

She's determined to walk out of there under her own steam, and she hopes to return to college to finish her studies. "I've experienced things and I thought with my experiences I can help people. I want to be a good social worker."

Since childhood, Haddad has dreamed of writing a book about living with EB, to help others understand the condition. "I thought it would be a good idea because everyone comes up to me and asks: 'What happened with you? Why are your hands like that? Are you burned?"'

She also wants to encourage those who share her skin-ravaging disease: "I would let them know that they're very strong to be living with this disorder.

"Even with our disorder, we can still try and do a lot of things," insists Haddad, a fashion-lover who likes to draw and has learned to balance a pencil without further harming the skin on her fingers. "And even though it can sometimes be hard and challenging, we could still try."

It's difficult to say what Haddad's prognosis is: as long as she has wounds, she is at risk of developing skin cancer again, says her surgeon. But the blistering that once marred her face, chest and abdomen has disappeared, and doctors don't know why or what this means for her future.

One thing Cross does believe: she and the other staff should be thanking Haddad, not the other way around.

"Because I think she's taught us something," she says.

"For me, everything in medicine is all about giving you more years to your life. But I think what Mary shows people is that it's crucial to give more life to your years."