COVID-19 raises new challenges for children with epidermolysis bullosa and their families
Life can be incredibly difficult when even eating lunch or turning around in the middle of the night can cause you agony.
This is the reality for siblings Nur Siddiqah and Muhammad Azraqee Azny.
They have a rare genetic condition called epidermolysis bullosa (EB), which some call “the worst disease you’ve never heard of”.
- About 500,000 people are living with epidermolysis bullosa, an incurable genetic skin disease
- Scientists are exploring different treatment options: protein therapy, cell therapy and gene therapy
- Families say COVID-19 pandemic has posed significant challenges, such as increased isolation
It means the the layers of their skin are not firmly anchored together, which makes it extremely fragile.
They are prone to blisters and sores, which can be as serious as deep burns.
Siddiqah says she loves to play, but even walking can be difficult.
“I love food but can’t eat most of the time,” she says.
“I want to go to the park, but I’m afraid of getting hurt.
“I’m so scared that people will hit me and hurt me.
Azraqee, 6, agrees.
“It’s difficult, but I can also have fun,” he says.
“From consciousness comes understanding”
Azraqee and Siddiqah were diagnosed with EB shortly after their birth in Malaysia.
EB has no cure, and there are approximately 500,000 people living with some variation of the condition worldwide.
Their mother, Kida Azny, said that when Siddiqah was born she was missing most of her skin, but it took almost two days to get a diagnosis.
Even then, the hospital did not have the dressing specialist the newborn baby needed and the clinicians did not know how to properly dress his wounds.
Ms Azny and her husband Mohd Aidil Aim have taken to the internet for answers.
“It was difficult because not many people want to talk about it. That’s why I’m so committed to awareness, ”she says.
“From awareness comes understanding, and from understanding comes appropriate support.”
Ms. Azny says she doesn’t want other families to feel as lonely as she is.
“Isolation, for us, has been a long-standing problem,” she says, adding that the challenges have been compounded during the COVID-19 pandemic by restrictions, a shortage of bandages and the constant angst Azraqee and Siddiqah get sick.
The pandemic brings more challenges
Simone Baird is the National Family Support Coordinator for Debra Australia, a non-profit organization for families with EB.
Ms Baird says many of their clients, already on a “very lonely journey”, have isolated themselves during the pandemic.
Zlatko Kopecki of the University of South Australia, a researcher in skin conditions such as EB, said during the lockdown, outpatient clinics were forced to close their physical doors and offer specialized services such as online skin checks.
People with certain types of EB have an increased risk of developing a type of skin cancer called squamous cell carcinoma.
“A lot of these patients go on to develop skin cancer, so it’s very important that they end up going to pathology clinics.”
Dr Kopecki says there is a “significant risk” that some cancers developing in EB could have been missed because specialists have not been able to examine the skin closely.
But Ms Baird said no EB family had been denied skin checks or cancer treatment during that time.
Explore potential treatment options
There is no known cure for EB, and Dr Kopecki says the development of treatment options has been slow.
Scientists explored three different options: protein therapy, cell therapy, and gene therapy.
People with EB either lack one of the proteins that bind the layers of their skin together, or the protein itself is defective.
With protein therapy, the defective or missing protein is replaced, a method that has had some success in animal testing.
But when the study passed to people, some participants developed liver problems.
Scientists are exploring different protein therapy options to avoid this problem, and clinical trials are underway.
Cell therapy offered some relief, but it was only short-lived, says Dr. Kopecki.
This procedure involves transferring healthy cells to patients with EB, with ongoing trials using bone marrow and umbilical cord stem cells.
“Gene therapy is the most promising at the moment,” he says.
It aims to correct the genetic mutation that causes EB.
Dr Kopecki says this is an expensive and difficult treatment option to explore because each patient has a different type of mutation, which means the cost of gene therapy is high.
It also involves important regulatory and safety considerations.
Dr Kopecki and his colleagues at the University of South Australia are studying treatments to improve the healing rate of blisters.
“It won’t cure the disease, but it could improve the cure rate and, therefore, reduce any risk of infection, reduce hospital stay and improve quality of life,” he says.
“We need to provide better support and better treatment for families living with the disease.”
Mrs. Baird agrees.
Her daughter Eliza died three years ago from kidney failure, a secondary complication of EB, so Ms Baird knows full well how difficult the disease can be.
“It’s the worst disease you’ve never heard of,” she says.
EB in Australia
About 1,000 people in Australia are living with EB.
Ms Baird says there are only around 160 families in the Debra database, so there are likely hundreds of people living with the disease in Australia that the organization does not know.
Ms Baird says there is a lot of support for EB patients in the pediatric system, but not enough for adults.
“Once the transition starts to happen from the pediatric system to the adult system… they fall through the cracks,” she says.
“[People with EB] tend to set themselves apart as they get older in life, with skin cancer and complications, [and] they require more care with hospitalizations. “
Dr Kopecki says there is also a need for more specialist EB nurses across Australia.
“Right now there are four specialist EB nurses: one in Sydney, Melbourne, Adelaide and Brisbane,” he says.
‘Scared’ to return to Malaysia
Azraqee and Siddiqah have two younger siblings, Muhammad Rafeeq, two, and Nur Saqeenah, three months, both born in Australia and neither of them have EB.
The family moved to Australia in 2017 to participate in a clinical trial and hope to stay, but are still awaiting news of their residency application.
Ms Azny says she is afraid to leave Australia, where the standard of care is higher.
Siddiqah and Azraqee go to a mainstream school in Australia, which is not possible for them in their home country due to a lack of specialist support.
Siddiqah wants to become an arts and crafts teacher when she grows up. it’s one of his favorite classes at school.
And Azraqee says he wants to be a policeman, because he “would like to ride in a car with the siren on”.