KUALA LUMPUR, Oct 1 — When Azmi Abu Kassim and his wife Noor Hafiztulaizam Sidek welcomed their second child into the world seven years ago, they learnt that Nur Dini Adawiyah was born with a genetic skin disorder called Epidermolysis Bullosa or EB for short.
The couple from Kuantan, Pahang were at a loss but were told their newborn daughter could receive proper medical treatment at Hospital Kuala Lumpur (HKL) for the little known ailment.
“At that time it was really tough to care for her,” Azmi, a technician, told Malay Mail.
He related that he and his wife stayed in HKL for one month to learn about caregiving for their daughter even though they could ill-afford to resign from their jobs.
The past seven years have been a struggle. The people around them asked if their newborn daughter had been hurt in a fire or had boiling water spilt on her, and out of desperation and ignorance, they tried to look for a cure.
“In these seven years, we have tried many methods to cure her. Village medicine, traditional medicine and others, but so far, there is no cure. Even if there is, it only lasts for a while.
“But we love her very much no matter what, and with DEBRA and other available help around, we will work to help medicate her to the best of our ability,” Azmi said, referring to the Dystrophic Epidermolysis Bullosa Research Association by its acronym.
DEBRA Malaysia was founded by HKL consultant paediatric dermatologist Dr Leong Kin Fon and former nurse Khatijah Abdullah to educate caregivers and parents of children affected with EB and dystrophic epidermolysis bullosa (DEB).
The organisation is made up of a team of volunteer medical doctors and healthcare workers, dedicated to improving quality of life for those with EB and DEB, as well for their families, by helping with access to medical care.
Dr Leong estimates between 150 and 300 Malaysians are living with EB, but said only 60 cases are recorded in the National EB Registry.
“I think even among the non-dermatology doctors, non-paediatric doctors, they may not even know about this condition called EB,” said the DEBRA Malaysia chairman.
DEBRA Malaysia’s biggest challenge, according to Dr Leong, is telling the guardians that there is no known cure for the genetic conditions at the moment, apart from regular care to provide some relief from the pain.
He said this is because many still seek an immediate cure by resorting to village doctors and traditional medicine practitioners when the primary concern should be proper caregiving.
“As usual, everyone wishes to have a miracle cure. That you do once, and you get cured the next day. So when you are at a denial stage, or they are still hoping that there is a cure, they might want to let go of the so called western conventional medicine and go for all sorts of different interventions, for example diet manipulation,” he said, adding that the regular excuse given by some a the root cause of EB is food allergy.
Dr Leong said restricting food intake would ultimately cause more harm to the EB child patients as they would then suffer from malnutrition too.
“In the first place, the EB kids need more nutrition. Yet you are restricting by telling them that they cannot eat eggs, cannot eat seafood. At the end of the day, where can they get their protein from? So they end up with a more severe vicious cycle, because they don’t have enough nutrition to repair their damaged skin,” he said.
Dr Leong said studies on the genetic skin disorders are still at its infancy in the country but that DEBRA Malaysia is working to find out more cases.
Caring for EB sufferers is also a costly affair, and can cost up RM5,000 on a monthly average, with the main cost being non-adhesive dressing and its needed equipment, Dr Leong said.
EB child patients are also known as “butterfly children”, as their skin condition is likened to the wings of butterflies, which are weak and unable to handle mechanical trauma.
This causes the child’s skin to tear or blister at the slightest amount of friction applied and is a lifelong condition.
Another group dedicated to helping those with rare disorders in the country is the Malaysian Rare Disorders Society, a support network for parents and guardians of people born with rare medical ailments set up by Datuk Hatijah Ayob 14 years ago when she lost her eldest granddaughter to a rare metabolic condition developed at birth.
“It was already traumatising for us. My granddaughter was alright but she has inborn error of metabolism, so she has missing enzymes to absorb.
“Hers was a serious one so she didn’t last long. For those with conditions like her, to survive, they need enzymes,” Hatijah recounted to Malay Mail.
She remembered the difficulties of hospital visits for her granddaughter’s treatments and her desire for emotional support.
The Malaysian Rare Disorders Society was formed in 2004, with the help and guidance of the Genetic Unit, Department of Paediatrics, of the University of Malaya Medical Centre (UMMC).
It has helped many parents network to share their stories and seek moral support, as well as connecting them to medical specialists well-versed in treating rare medical conditions.
“I was very much involved in NGO work, so I thought I had access [to information], but when I went in, there was nothing in the open. No information, nothing and doctors also don’t know.
“Like EB, at least they can identify from the skin, but there are others where it follows any other common diseases and disorders,” she said, narrating the difficulties in gathering data and information.
Like Hatijah, Khatijah who is vice-chairman of DEBRA Malaysia, was moved to act as a way to cope with her two daughters born with EB.
Only one child survived, and who is currently billed as the third-longest surviving EB patient at 51-years old.
According to Epidermolysis Bullosa News, the life expectancy for those born with EB is largely dependent on the disease type which they inherit.
While some forms are mild and can even improve with age, others are very severe, that a child suffering from it is unlikely to live into adulthood.
But Khatijah’s daughter who currently lives in New Zealand, beat the odds, and even gave birth to a healthy daughter, who is now 18-years old.
“She’s living a normal life and she has got a nice family and I have got a nice granddaughter and the daughter is away now studying in university, and she’s already 18-years old.
“She was able to carry on with her daily life, so I said, all is not lost. Even if you have EB, and some say you cannot do this and that, but she still led a normal life,” she told Malay Mail.
Khatijah admitted that the stigma and stereotyping, did badly affect her daughter mentally, and it was a challenging time for them both to cope, especially given the lack of awareness and information on such skin disorders.
“I was all by myself and that’s what made me stronger,” a beaming Khatijah who co-founded DEBRA, said.
