Mother becomes a champion of little-known ‘butterfly children’

SINGAPORE — When her daughter was growing up, Ms Ritu Jain did everything she could to shield her from regular childhood activities like running and jumping. But Ms Jain, 48, was no over-protective parent.

Her daughter, Jenna (not her real name) was born with a rare genetic skin disorder called epidermolysis bullosa (EB).

Jenna’s skin is so fragile that merely walking 100m on a hot day would cause painful blisters to form on the soles of her feet, said Ms Jain, who is president of Debra Singapore, the local chapter of a worldwide alliance of EB patient support groups. Similar blistering occurs on her fingers whenever she does a lot of writing.

Sharing Jenna’s story to raise awareness this International EB Awareness Week, which takes place on the last week of October each year, Ms Jain said: “The past 16 years, my daughter has not been able to do what most children can do, such as sports, running and playing outdoors. I am particularly saddened that we can’t easily engage in activities that most families take for granted, such as going to theme parks and zoos.”

EB affects approximately 15 in every one million births, according to Dr Mark Koh, head and consultant at the Dermatology Service of KK Women’s and Children’s Hospital, which sees about 20 adults and children with EB.

Children like Jenna are often known as “butterfly children”, as their skin is as delicate as a butterfly’s wings; the slightest friction or trauma can cause painful blisters, tears and open wounds.

In Singapore, about 30 to 40 families are affected by the incurable genetic disorder, in which the skin lacks a critical protein that binds its layers together.

A child may inherit EB from an affected parent, or both parents, who carry the gene without any symptoms. Jenna inherited the condition from her father. She has a 21-year-old brother who is not affected.

Despite the restrictions and pain caused by the disease, Jenna considers herself “lucky”, for her condition is the mildest form of EB.

“We’ve seen children with severe EB who are highly dependent on morphine to help them cope with the pain. These children go through hell,” said Ms Jain.

A LIFE OF REPEATED SKIN BLISTERING AND PAIN

Children with more severe forms of EB experience extensive skin blistering, ulceration and scarring throughout their lives.

“This can be very painful, and the repeated blistering and scarring may even lead to amputation of fingers or toes. Skin cancer can also occur in adulthood. In very severe forms of EB, death can occur due to skin infections,” said Dr Koh.

As their severe pain usually does not respond to conventional painkillers, patients may require long-term strong pain medications such as morphine, said Dr Priya Bishnoi, clinical associate at KKH’s Dermatology Service and secretary at Debra Singapore.

There is currently no cure for EB although research on the use of creams, medications and skin transplants are in progress. Some hospitals abroad have attempted bone marrow transplants for severe EB but the procedure is associated with severe complications and infections, said Dr Koh.

According to him, KKH is expected to begin a clinical trial of a new cream early next year, in collaboration with other EB centres around the world. The cream is expected to heal EB wounds faster and prevent further skin erosion.

With no effective cure in sight, patients and their caregivers take it one day at a time, focusing on the management of symptoms, pain or infection.

With proper management and wound care, at least 80 to 90 per cent of these children living in Singapore, the majority of whom have less severe forms of the disease, are able to live productive lives, work and start a family, said Dr Koh.

“A great deal of effort is made to teach parents about prevention of wounds and managing the wounds with non-adhesive bandages, dressings and tapes,” said Dr Bishnoi.

But the elaborate wound care routine is often financially draining.

“For example, a 5g tube of ointment that my daughter uses costs S$71 here. A tube lasts only about five days although she uses it sparingly and carefully.

“She also uses a 10-by-10cm foam dressing, which costs S$9 per piece and has to be changed every day. All these outpatient costs are not Medisave-claimable,” said Ms Jain, referring to the national medical savings scheme.

“Other costs include cost of transport; due to her condition, a car or taxi ride is not a luxury but a necessity,” she added.

Besides the uphill task of managing an incurable and painful chronic disease, another challenge EB sufferers and their families face is the lack of public awareness of the condition.

“Although we tell people that what our daughter has is hereditary and chronic, most can’t comprehend the permanence of the disease. They think her blisters are temporary and tell me: ‘Oh, she’ll get better soon’. Most people don’t understand that EB is not something you get better from,” said Ms Jain, adding that they had tojump through hoops to help Jenna get adequate points for her co-curricular activities in secondary school, as she could not participate in many physical outdoor activities.

Ms Jain hopes that will change for EB families now that a patient-led support group is available in Singapore.

DEBRA’S HERE TO HELP

Debra Singapore was officially registered last year by patients and their families, in collaboration with doctors, nurses and researchers. Dr Koh, the society’s medical adviser, said it aims to increase awareness of the condition, as well as provide support for patients and their families.

Previously, patients and families had no local resources or support to turn to, said Ms Jain, who is also on the executive board of Debra International.

“Life for any child with EB is a long and painful journey which would need support from family, doctors and the society,” said Dr Bishnoi.

Besides raising funds to help local families, Ms Jain said Debra Singapore aims to become a “regional hub” for EB support which includes providing wound-care training.

To date, it has also provided dressings and wound-care advice to orphanages and families with EB around the region, including India, Cambodia, Indonesia and Pakistan.

Today, Jenna, who is in her first year of junior college, has become adept at managing her own skin condition. She goes through an elaborate daily care routine that involves the lancing and draining of blisters, and the use of foam dressings and ointment to help protect and heal any existing skin wounds.

She has also figured out how to prevent extensive blistering on her soles by rationing the amount of time spent on her feet.

“Say, if I want to go for a movie tomorrow, I’d ‘save’ my feet today by walking less. I would also leave school at a time when it is less sunny — the heat worsens the blisters. It’s easier for me to manage my condition now because I know my limits,” said Jenna.

The teenager tries not to let her condition stop her from experiencing life.

“There is really no point saying I wish I didn’t have this skin condition, be sad or mope about it,” she said.

For example, she could have given community service trips to Cambodia, Taiwan and Sarawak, as well as a dance event in school a miss, but instead chose to attend them.

Participating in the events left her with infected pus-filled blisters that took weeks to heal, but they also fulfilled her in intangible ways.

“I don’t want to not have to do certain things because of my condition. Imagine everyone dancing in the hall and you’re the only person not doing it. I knew I would suffer (after participating in those events) but I didn’t want to miss out,” she said.

For more information and support, visit www.debrasingapore.org, call +65 9237 5823 or email debrasingapore [at] gmail.com.