<figure id="attachment_3091108" aria-describedby="caption-attachment-3091108" style="width: 1600px" class="wp-caption aligncenter"><img loading="lazy" class="wp-image-3091108 size-full" src="https://media.freemalaysiatoday.com/wp-content/uploads/2025/06/4fbcdcf8-mohamed-syafiq-zulkarnain-lifestyle-emel-pic-230625-1.webp" alt="" width="1600" height="1000" /><figcaption id="caption-attachment-3091108" class="wp-caption-text">Mohamed Syafiq Zulkarnain lives with the rare genetic disorder HED, which causes him to be unable to sweat. (Bernama pic)</figcaption></figure>
KUALA LUMPUR: Born with the rare genetic condition hypohidrotic ectodermal dysplasia (HED), Mohamad Syafiq Zulkarnain has grown accustomed to curious stares.
Having come to terms with his distinctive appearance &#8211; marked by sparse hair and widely spaced, pointed teeth &#8211; what troubles him more 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. So I frequently have to wet my body and avoid staying out in the sun for too long,” the 35-year-old told Bernama.
HED is a genetic disorder that affects the development of ectodermal tissues such as skin, hair, teeth and sweat glands. It is classified as a rare disease that affects 3.5%-5.9% of the global population.
Patients in Malaysia face even greater challenges due to a lack of healthcare professionals who specialise in this incurable condition. This has led to delayed diagnoses, which in turn increases life-threatening risks.
A deadly condition
Syafiq, who hails from Seri Manjung in Perak, said he was fortunate that his mother, who worked in healthcare, noticed something amiss when he was a baby.
“She and my grandmother noticed I was always fussy in hot weather, crying every night, and was only calm when I slept shirtless under a fan. They also observed that I would tire easily in the heat, did not sweat, and still had no teeth by age two.
&#8220;That was when they began seeking a diagnosis for my condition,” he said, adding that his first tooth only appeared when he was 2.5 years old, instead of at six months.
This early diagnosis allowed his family to take preventive steps, especially during hot weather &#8211; measures that ultimately saved his life. He shared that he&#8217;d once lost a friend, who&#8217;d also had HED, to heat stroke during a hike.
&#8220;Like me, he couldn&#8217;t sweat, and his body temperature spiked suddenly,” Syafiq said, adding that the incident has made him extra cautious. This is why he doesn&#8217;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 acts as artificial sweat to help me cool down,&#8221; he added.
This inability to perspire also makes his skin prone to severe dryness and eczema, requiring him to routinely apply moisturising lotion and steroid cream. In addition, he 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.&#8221;
Staying cool in the face of stigma
Syafiq shared that during his schooldays, he couldn&#8217;t participate in sports and was given “special treatment”, such as being seated in a classroom near the toilets so he could wet his body more easily.
“I rarely joined outdoor or sports activities that lasted long in the sun. Classmates would sometimes think I was the teacher&#8217;s pet,” he recalled.
The stigma has followed him into adulthood: even with a master&#8217;s degree in information management, 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 HED, they assumed I wasn&#8217;t strong or productive enough.
“In fact, I was once told that my life wasn’t ‘interesting enough’ to be featured in the media because I didn&#8217;t ‘look bad enough’,” said Syafiq, who is now a freelancer and also serves as a coordinator for the HED support group under the <a style="color: #ff0000;" href="https://mrds.org.my/" target="_blank" rel="noopener">Malaysian Rare Disorders Society</a>.
<figure id="attachment_3091110" aria-describedby="caption-attachment-3091110" style="width: 1600px" class="wp-caption aligncenter"><img loading="lazy" class="wp-image-3091110 size-full" src="https://media.freemalaysiatoday.com/wp-content/uploads/2025/06/911c5154-tae-sok-kun-lifestyle-emel-pic-230625-1.webp" alt="" width="1600" height="1000" /><figcaption id="caption-attachment-3091110" class="wp-caption-text">Dr Tae Sok Kun says many general practitioners don&#8217;t know where to refer cases like HED, highlighting the need for early exposure to rare diseases during medical training. (Bernama pic)</figcaption></figure>
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 early and accurate diagnosis.
“I see this delay as a ‘diagnostic odyssey’ &#8211; a long and exhausting journey emotionally, mentally and financially. Unfortunately, many parents don&#8217;t realise that symptoms like delayed tooth growth or lack of hair are important signs.&#8221;
She pointed out that Malaysia also lacks specialists &#8211; there are only about 15 clinical geneticists nationwide &#8211; and the referral system is still unstructured.
“Many general practitioners don&#8217;t know where to refer cases like HED, which shows an urgent need to strengthen the referral structure and provide early exposure to rare diseases during medical training,” she said.
While there is no cure for HED, early interventions and symptomatic treatment can help improve patients’ quality of life. Managing body temperature is critical since patients are prone to hyperthermia, while skin treatment, eye-dryness management, nutrition, and activity monitoring are also recommended.
Tae also emphasised the importance of genetic counselling for at-risk families, which not only helps couples understand their risks and options, but also provides critical emotional support in facing genetic challenges.
With this approach, it is hoped that new cases of rare diseases can be reduced, while improving the quality of life for patients and their families in the long term.

MatchPoint Times

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