Skip to main content

You are here

Harlequin Ichthyosis

by Sally Alt

Harlequin

The Sherlock family brings the race to find a cure for a rare skin condition to Hagerstown.

Margaret Sherlock just recently started fundraising and working to raise awareness about harlequin ichthyosis. If you haven’t heard of it, fret not; you’re in the majority, but Margaret hopes that will not be the case for long. When Margaret was pregnant with her daughter, Jane, her child’s image looked perfect on the sonogram. But after Jane was born, she found that her newborn daughter had a hard casing of skin. Margaret knew right away that her daughter had harlequin ichthyosis. Sherlock had given birth to a son with the condition a year before her daughter was born, but he died the day after his birth.

“I didn’t have a lot of time when she was little,” she says about fundraising and raising general awareness about the condition. But in 2012, her family raised $15,000 to help patients with the disease through the Baltimore Marathon, which they ran in honor of Jane. The family decided that they could raise more funds by having their own race, so Jane’s aunt, Peggie Carroll, organized a race in Hagerstown.

The race in Hagerstown was the family’s first 5K fundraising event, which started at the Washington County Agricultural Center. “Now we are going to do it every year in October,” says Margaret, who now calls and emails news stations and hands out cards and bracelets to encourage people to become aware of the disease. “We’re trying to spread awareness as much as we can.”

Margaret, who currently resides in Wilmington, Delaware, came to Hagerstown with Jane and her mother to participate in a 5K fundraiser in October. The event featured food, prizes, and an Elvis tribute performance. “We were kind of nervous, but everything seemed to work out,” says Margaret. The family raised approximately $100,000 from the 5K race, and 150 runners, including 30 family members, participated in the event. Although Jane did not run in the race, she had a really good time, says her mother.

Margaret donates all of the money that her family raises to the Foundation for Ichthyosis and Related Skin Types, which is dedicated to raising awareness of and finding a cure for harlequin ichthyosis. Among the groups who raise money for the foundation at a grassroots level, her family has raised the most funds.

A Little Background

When her daughter was born with the condition, Margaret says, “I didn’t have a very good outlook, because my son didn’t survive.” Jane has the most severe kind of ichthyosis you can have, according to Margaret; however, with medical treatment and help from her family, five-year-old Jane is doing well.

Babies with harlequin ichthyosis, a very rare and often-fatal skin disease, have thick, dry and scaly plates of skin that split apart and can distort their facial features. Their tight skin can pull around the eyes and mouth and turn the eyelids and lips inside out. Because of the tightness of the skin in the chest and abdomen, infants often have difficulty breathing and eating.

As part of Jane’s treatment, her mother gives her long baths every day. “I have to soak her and scrub her, because her skin grows 14 times faster than ours,” says Margaret. On some days, she has to bathe Jane for up to five hours, and also uses Aquaphor, a petroleum-based ointment on her daughter’s skin. “Her skin gets tight, so I have to moisturize her a lot,” she said. Jane also becomes very itchy and is constantly scratching.

Jane frequently contracts infections, which spread easily on patients with harlequin ichthyosis, because of the openings on their skin. During this past year, she has been hospitalized with eight staph infections in addition to three yearly trips to see a specialist at the children’s hospital in Philadelphia.

In addition to the basics of caring for Jane’s skin condition, her body requires a very high-calorie diet. Doctors wanted to put a feeding tube in her when she was a baby, Margaret says, but she avoids the procedure by increasing Jane’s calorie intake. She developed tricks such as adding half-and-half to her daughter’s cereal.

Although harlequin ichthyosis afflicts Jane’s skin, the disease does not affect her mind or her capacity to learn. “She’s just like any other little girl,” says Margaret, who adds that Jane loves to play with her iPad, and also enjoys putting on makeup and playing dress-up. “She’s a real girly girl.” The two have even had arguments in stores, because Jane wants her mother to buy her high heel shoes. “She doesn’t know that she only has a size 5 foot, so it’s hard to find a pair of baby high heels.”

Though Jane has a lot of attitude — “I fight with her like she’s a teenager,” Margaret says, adding, “She’s so witty,” — she can get nervous in public places like the mall or playgrounds, because of how some people react when they see her condition. She’s also a little anxious about starting kindergarten next year — after already having had to field questions from kids asking things like “What is wrong with you,” it’s understandable. Sometimes even adults have been rude to Jane by gasping or making faces, but Jane’s 9-year-old brother, Richard, has no problem defending her, says Margaret, which is at least one reason why she feels perfectly comfortable around her family.

For more information about harlequin ichthyosis or to make a donation to the Foundation for Ichthyosis and Related Skin Types, please visit www.firstskinfoundation.com.