Living with HED: Unable to sweat, shadowed by stigma

Malay Mail

a day ago

KUALA LUMPUR, June 11 — Born with the rare genetic condition Hypohidrotic Ectodermal Dysplasia (HED), Mohamad Syafiq Zulkarnain has grown accustomed to the curious stares he often attracts.
While he has come to terms with his distinctive appearance — marked by sparse hair and widely spaced, pointed teeth — these features are not his greatest concern.
What troubles him most is the relentless heat he must endure every day.
'HED prevents my body from producing sweat, which exposes me to the risk of heat stroke if my body temperature exceeds the normal range. So I have to frequently wet my body and avoid staying out in the sun for too long,' the 35-year-old man told Bernama recently.
HED is a genetic disorder that affects the development of ectodermal tissues such as skin, hair, teeth, and sweat glands.
According to the World Health Organisation, HED is among more than 7,000 rare diseases identified so far and affects about 3.5 to 5.9 per cent of the global population.
However, HED patients in Malaysia face even greater challenges due to a lack of medical specialists to manage this incurable condition.
This has led to delayed diagnoses, which in turn increases life-threatening risks.
Early diagnosis
Mohamad Syafiq, the eldest of four siblings, said he was fortunate that his mother, who worked in healthcare, recognised early on that something was amiss when he was still a baby.
'When I was a baby, my mother and grandmother noticed that I was always fussy in hot weather, crying every night, and only calm when I slept shirtless under a fan.
'They also noticed I would tire easily in the heat, did not sweat, and still had no teeth by the age of two. That was when they began seeking a diagnosis for my condition,' he said, adding that his first tooth only appeared when he was two and a half years old.
This early diagnosis allowed his family to take preventive steps, especially during hot weather — measures that ultimately saved his life.
'I once lost a fellow HED patient to heat stroke during an outdoor activity. Like me, he couldn't sweat, and his body temperature spiked suddenly during a hike,' he said, adding that the incident made him extra cautious.
This is why Mohamad Syafiq, who hails from Seri Manjung, Perak, doesn't mind the odd looks he gets when he sprays himself with water, even in public.
'I always carry a wet towel and a spray bottle wherever I go. The water spray acts as 'artificial sweat' to help cool me down when my body temperature rises,' he explained.
His inability to sweat also makes his skin prone to severe dryness and eczema, requiring him to routinely apply moisturising lotion and steroid cream.
He also has to be careful about what he eats due to his dental condition.
'I can't eat hard foods like nuts or chewy foods. Sometimes my speech is unclear. Many patients need special dentures or implants to overcome this limitation,' he added.
Mohamad Syafiq Zulkarnain, the eldest of four siblings, said he was fortunate that his mother, who worked in healthcare, recognised early on that something was amiss when he was still a baby. — Bernama pic
Stigma
Recalling his school days, Mohamad Syafiq said that unlike his peers, he couldn't participate in sports and was given 'special treatment' — such as being seated in a classroom near the toilets so he could cool down and wet his body more easily.
'I rarely joined outdoor or sports activities that lasted long in the sun, due to the risk of heat stroke. Sometimes classmates thought I was the teachers' 'favourite' because of this,' he said.
The stigma has followed him into adulthood.
Even with a degree, finding a job has been difficult.
'I was unemployed for a long time because it was difficult to find a job suited to my condition. I often failed interviews as employers struggled to understand my speech, and when I explained my HED, they assumed I wasn't strong or productive enough,' said the holder of a Master of Science in Information Management from Universiti Teknologi MARA, who now works as a freelancer.
The stigma isn't limited to the public; it also exists among professionals.
'I was once told that my life wasn't 'interesting enough' to be featured in the media because I didn't 'look bad enough',' said Syafiq, who also serves as a coordinator for the HED support group under the Malaysian Rare Disorders Society (MRDS).
He added that public awareness of rare genetic diseases, including HED, is very low, with some patients only diagnosed in adulthood — missing the chance for early treatment and support.
Strengthening the treatment system
Meanwhile, Clinical Geneticist and Paediatric Consultant Dr Tae Sok Kun said one of the biggest challenges for patients with rare genetic diseases like HED is getting an accurate diagnosis early.
'I see this delay in getting an accurate diagnosis as a 'diagnostic odyssey' — a long and exhausting journey emotionally, mentally, and financially.
'Many parents don't realise that symptoms like delayed tooth growth or lack of hair are important signs. They think it's just normal delay and don't seek early treatment,' said the specialist from the University Malaya Medical Centre (UMMC).
She added that Malaysia also lacks specialists — currently only around 13 to 15 clinical geneticists nationwide — and the referral system is still unstructured.
'In fact, many general doctors themselves don't know where to refer cases like HED, which shows an urgent need to strengthen the referral structure and early exposure to rare diseases in medical training,' she said.
'In terms of treatment, HED is a genetic disease with no cure, but early interventions and symptomatic treatment can help improve patients' quality of life. Managing body temperature is critical since patients are prone to hyperthermia due to a lack of sweat glands. Skin treatment, eye dryness management, nutrition, and activity monitoring are also recommended,' she said.
The situation is further complicated by the fact that genetic testing needed to confirm a diagnosis still has to be sent overseas, adding cost and delaying treatment, said Dr Tae, noting that while Malaysia has basic facilities, local capacity remains insufficient.
Social support
Dr Tae also emphasised the importance of genetic counselling for at-risk families, as well as the use of technologies such as Preimplantation Genetic Diagnosis (PGD) through In Vitro Fertilisation (IVF) to prevent the transmission of the HED gene to future generations.
This counselling, she said, not only helps couples understand their risks and options, but also provides critical emotional support in facing this genetic challenge.
With this approach, it is hoped that new cases can be reduced, thereby improving the quality of life for patients and their families in the long term, she added.
In addition to medical challenges, HED patients also face a lack of social support, with most relying on general organisations like MRDS, which covers various rare diseases.
Dr Tae also noted that the physical appearance of HED patients — such as sparse hair and missing teeth — has a significant psychosocial impact.
'Although patients' intellectual ability is normal, their appearance often leads to misunderstanding and marginalisation, causing emotional distress. In fact, there have been cases where patients required psychiatric treatment and incidents of suicide due to prolonged social pressure,' she said.
Dr Tae further explained that although the government has listed rare diseases including HED in its official registry, related policies are still in draft form, hindering the allocation of special funding for treatment and support.
'Treatments like dental implants, which are vital for HED patients, are not fully covered by the government. Treatment costs can run into the thousands of ringgit, which is a heavy burden for patients and families,' she added.
Another burden is that most health insurance providers do not cover congenital conditions.
Dr Tae stressed that it is time for the government to take a systemic approach in managing rare diseases — covering policy, specialist training, social support, and financial protection.
'While the focus is often on major diseases like diabetes and cancer, the voices of rare disease patients can no longer be ignored,' she said.
As for Mohamad Syafiq, he simply hopes the government will help provide treatment and targeted support for people like him — including job opportunities.
'We don't want sympathy, just a fair chance to be independent and contribute,' he said.