Please be kind to her, says father of first toddler diagnosed with Werewolf Syndrome
This is part one of a feature story supported by the US National Press Foundation’s 2023 Covering Rare Diseases fellowship
KUALA LUMPUR: “Let’s be kind and inspire Missclyen so that this little one grows up with a passionate spirit,” said the father of a two-year-old with Werewolf Syndrome.
This heartfelt plea came from Ronald Anak Jimbai and his wife Theresa Guntin, urging everyone to treat their youngest daughter, Missclyen, diagnosed with Congenital Generalised Hypertrichosis (CGH), with kindness and respect.
Ronald and Theresa have three daughters and one son, with their eldest daughter in Standard 5, the second daughter in Standard 2, their son in pre-school, and the youngest child, Missclyen, just over two years old.
In a recent interview with Malay Mail, the couple mentioned that Missclyen is the only person in Malaysia diagnosed with Congenital Generalised Hypertrichosis, commonly known as Werewolf Syndrome.
Ronald said that his family has navigated through both challenges and joys in the past two years.
There were instances of people mocking Missclyen’s appearance, likening his daughter to the child of an animal or the child of a ghost, he said.
He said there were also heartwarming moments such as when the family received support from compassionate individuals and medical experts, Missclyen’s adoption by the Queen, and, most recently, strangers requesting photos with Missclyen.
“The other day, during our short getaway in Kuching, a crowd approached us, eager for photos with Missclyen. We could barely move, and the situation got a little out of control,” he recalled.
“At times, she gets frightened by overly enthusiastic strangers,” he added.
Social cold gaze
He mentioned that nobody has ever greeted his family or cared about Missclyen since she was born. It was only recently when Missclyen became the adopted daughter of the Queen, that more people got to know her, and they started being friendly to her.
“Previously, she was teased... but not anymore, as people started understanding her health condition. Additionally, being the adopted daughter of the Raja Permaisuri Agong, there will be consequences for anyone speaking disrespectfully,” he explained.
The 16th Yang di-Pertuan Agong Al-Sultan Abdullah Ri’ayatuddin Al-Mustafa Billah Shah and Raja Permaisuri Agong Tunku Azizah Maimunah Iskandariah had embarked on an 11-day expedition named ‘Kembara Kenali Borneo’ on Sept 3 last year covering a total distance of 2,154 kilometres.
During this expedition, the royal couple met Missclyen briefly when the Kembara Kenali Borneo convoy made a stop at the grounds of Al-Falah Mosque in Kampung Penan Muslim Batu 10, Bintulu-Miri.
Grateful for the Queen’s compassion
Ronald said that Her Majesty is kind-hearted and deeply cares for the people.
Recalling the moment he first heard about Tunku Azizah’s intention to adopt Missclyen, he felt as though he must be “dreaming”. But all was confirmed when he carefully read the letter from Istana Negara again.
In the letter dated Oct 10, 2023, Tunku Azizah expressed her wish to be Missclyen’s benefactor for her education and medical treatment.
Born on May 5, 2021, Missclyen has a distinctive appearance and she was also born without nostrils. Following her referral from Bintulu Hospital, she underwent nose reconstruction surgery at Sarawak General Hospital (SGH) in Kuching and stayed there for a month under observation.
Ronald said that Missclyen is now a healthy, active, and curious little toddler, similar to other children, but with excessive body hair.
However, he conceded that Missclyen, given her unique condition, may not be able to attend conventional schools due to concerns about possible bullying.
The cause of hypertrichosis remains unclear.
Ronald also mentioned that doctors have studied Missclyen’s hair and even took blood samples from him, his wife, and Missclyen. However, until now, the cause of Congenital Generalised Hypertrichosis remains unclear.
Recalling Missclyen’s first shaving experience, he mentioned that she strongly resisted her mother’s attempt, and shortly after the hair removal, she developed a fever.
Within a week of shaving, new hair grew back, and it was longer and denser than before, he added.
“A specialist from the Universiti Malaya Medical Centre has suggested using laser treatment to remove Missclyen’s excessive hair. When I asked about possible side effects, the specialist was uncertain, only noting that laser treatment was one option.
“At that moment, my wife and I fell into deep thought. We even felt that maybe this was all destined,” he shared.
Based on current academic research, a definitive cure for hypertrichosis has not been identified. Nevertheless, temporary solutions such as shaving, waxing, and chemical epilation are available to manage excessive hair. For more lasting results, laser and electrolysis can be considered.
An academic article suggested that there have been only 50 reported cases of Congenital Hypertrichosis since the medieval period, and there are fewer than 100 cases of Congenital Generalised Hypertrichosis documented in scientific journals.
The World Health Organisation (WHO) classifies rare diseases as those affecting a small percentage of the population.
Currently, there are over 7,000 recognised rare diseases. The European Union defines rare diseases as those affecting 1 in 2,000 people, and in the United States, diseases are considered rare if they impact fewer than 200,000 people. Malaysia’s definition stands at 1 in 4,000 people.
In South-east Asia, about 9 per cent or 45 million people suffer from rare diseases and require long-term treatment. Due to the lack of a rare disease registry, Malaysia has limited data on its epidemiology.
Malaysia sees no spike in rare diseases
Responding in writing to Malay Mail, Datuk Dr Muhammad Radzi Abu Hassan, the Health directorgeneral, mentioned that as of 2023, there are 13,000 patients with rare diseases undergoing treatment in hospitals in the Ministry of Health.
While the health ministry does not have a registry or database to track the precise number of rare diseases in Malaysia, he said there are dedicated genetic laboratories and screening tests for rare diseases, adding that currently,
there is no significant increase in rare disease cases.
He added that the Malaysian Rare Disease List has recorded 492 types of rare diseases, and the ministry regularly updates the list by incorporating the new findings and evaluations obtained from cutting-edge technologies.
Substantial Challenges
Treating rare diseases in Malaysia in recent years poses significant challenges, encompassing issues like insufficient public awareness and lack of knowledge amongst healthcare professionals, a lack of accurate data on rare diseases, inadequate funding for holistic care of patients with rare diseases, and changes in government administration, said a health expert.
Prof Dr Thong Meow Keong, Universiti Malaya Medical Centre (UMMC) consultant clinical geneticist, said low awareness among the public and healthcare professionals regarding rare diseases has resulted in substantial challenges for patients.
“Accurate data on rare diseases in Malaysia are not available, coupled with inaccurate information and lack of diagnostic facilities led to ‘diagnostic odyssey’, which exacerbate the problem,” he said, adding that the country has inadequate resources to meet the patient’s needs.
Call for a registry
Proposing a solution, Dr Thong suggested an immediate focus on establishing a rare disease registry, similar to the dedicated registry for cancer, to enhance data accuracy and improve the management of rare diseases.
“Many instances of rare diseases go unreported. Therefore, we need a registry so that all doctors encountering rare diseases can report cases to the central database,” he emphasised.
He added that a nationwide expanded newborn screening for genetic diseases will be costeffective and able to detect over 30 rare diseases that may cause learning disabilities using a few drops of blood taken from a newborn at 24-72 hours of life.
This will supplement current newborn screening for G6PD deficiency and congenital hypothyroidism and enable Malaysia to be on par with other Asean countries such as Vietnam, Philippines, Thailand and Indonesia which have already started and are at the advanced stage of expanded newborn screening programmes. Singapore had already started expanding newborn screening more than 10 years ago.
Inadequate funding
Dr Thong also highlighted a longstanding issue of inadequate funding for the research and prevention of complications as a result of rare diseases, a situation that has persisted for the past 25 years.
Insufficient financial support has been a big problem for patients and their parents as many families struggle to afford the high medical expenses, he pointed out. Hence newborn screening has the potential to save lives and prevent severe disabilities.
In the 2023 budget, the Ministry of Health received RM36.139 billion, with RM25 million allocated for the treatment of rare diseases.
“This is a very small amount of the total health budget, and this is used for two hospitals, that is Hospital Kuala Lumpur (HKL) and Penang Hospital,” he said.
The wide-ranging effects
Highlighting resource concentration in government hospitals under the Ministry of Health, Dr Thong noted that the seven university hospitals under the Ministry of Higher Education and the three hospitals under the Ministry of Defence receive no funding for investigations and treatment of patients with rare diseases.
“No funding for rare diseases meant that patients who are treated in these ten hospitals, will not have access to the drug budget,” he asserted, emphasising that without the availability of treatment, all the patients will be referred away and this will hamper the training and education of medical students, trainee specialists and laboratory technologists in diagnosis, management and treatment of patients with rare diseases.
The other day, during our short getaway in Kuching, a crowd approached us, eager for photos with Missclyen. We could barely move, and the situation got a little out of control.
Ronald Anak Jimbai
A pause in initiatives
Changes in political leadership and policies have resulted in the delayed development of the National Framework for rare diseases or to draft a proposed National Rare Disease and Orphan Drug Act.
It was noted that there were pledges in past election promises to boost budget allocation for the treatment of rare diseases and offer incentives for private companies and charitable bodies to address rare diseases.
Acknowledging the proactive efforts of the then-Health Minister Datuk Seri Dzulkefly Ahmad in benefiting those suffering from rare diseases, Dr Thong expressed hope that attention would be redirected to rare diseases with Dr Dzulkefly back in charge of the Ministry of Health.
“Under Dr Dzulkelfy, at that time, he has been very supportive of NGOs and policies to support patients and families affected by rare diseases,” he said.
Dr Dzulkefly resumed his duties to lead the Health Ministry after being reappointed on Dec 12, 2023, during the Cabinet reshuffle initiated by Prime Minister Datuk Seri Anwar Ibrahim.
“Hopefully, now that he’s back, I am confident he will listen and take up the issue about rare diseases for the community,” he expressed. — Malay Mail