This is what Merpati Ahmad faces on a daily basis. The 48-year-old schoolteacher has a rare condition known as Fabry disease, which is caused by a deficiency in the enzyme alpha-galactosidase-A, which plays a role in breaking down fat.

Without it, fat builds up in the body’s cells, leading to complications such as kidney and heart failure, and stroke.

More common in men, symptoms include burning pain in the arms and legs that gets worse in hot weather, poor blood circulation, problems with the gastrointestinal system, progressive kidney disease, and enlargement of the heart.

There are over 6,000 types of rare diseases, making them often difficult to detect. Furthermore, medical knowledge, expertise and care in these conditions is lacking: throughout Malaysia, there are only 13 rare-disease specialists and 12 doctors in genetic clinics.

As most doctors and nurses are unlikely to encounter a rare disease patient in their lifetime, it may take months or even years for patients to receive a diagnosis.

This can further delay treatment and, as most rare diseases are degenerative, the patient’s condition may worsen, negatively impacting their wellbeing and quality of life.

For Merpati, diagnosis took several years. While blood tests in 2008 revealed he had high protein content in the urine – a sign of kidney disease – he was only officially diagnosed with Fabry in June 2016 and received his first treatment in December two years later.

“By this time, I had symptoms like water retention with swollen feet. I often felt tired and would get sick easily with high fever,” he said.

“When the doctor told me I had something called Fabry disease, I was shocked. There were so many questions in my mind – how did I contract this disease? How am I going to face it? Can I afford it?”

Naturally, the first person he shared this news with was his wife. Despite her sorrow, she urged him to be strong.

“As a husband and father, it also made me wonder, would I be able to live to a ripe old age and see my children grow up?”

Merpati explained that his condition makes it difficult to bear when the weather is hot, which means Malaysia’s current heatwave must be particularly challenging.

“I am easily tired and may experience muscle cramps or even faint. Thankfully, my colleagues have been understanding and I can continue to teach physical education lessons before 11am, before it gets too hot.”

He added that, during family holidays, his loved ones usually carry on with their activities when it gets hot while he has to find shelter.

“It is not ideal but it’s what we need to do. We try to view this whole experience as part of life’s trials for our family.”

Treating Fabry disease

Merpati receives weekly enzyme replacement therapy to address the buildup of fat, reduce pain, and prevent further organ damage. Since commencing treatment, he doesn’t fall sick as easily as before.

Administered intravenously, each session takes around three hours. Together with dialysis, which he receives twice a week, he has to spend around 30 hours at the hospital every month.

Apart from these major life adjustments, Merpati’s biggest concern revolves around treatment for rare diseases, which are not commercially viable and are often too costly for private individuals to bear without financial assistance.

“Treatment costs around RM100,000 a year,” he revealed. “Even as a working adult, I couldn’t afford that myself. I have been fortunate to receive aid from the education ministry, although I do not know how long this will be available to me.”

Nevertheless, he is grateful to have been told by his doctor that, with consistent treatment, the dosage for enzyme replacement will gradually be reduced.

To help other patients with rare diseases, experts and patient groups advocate for measures such as newborn screening to identify patients at an earlier stage; improved fund allocation to make treatment more affordable; and training of more healthcare experts to recognise and treat rare diseases.

Many patients face a long road to diagnosis, during which time they undergo emotional stress and uncertainty, while bearing the cost of seeing multiple specialists and undergoing numerous tests. Such measures would help ease the burden on parents, caretakers, and the patients themselves.

For Merpati, he is grateful to have been able to receive as well as support from his family, friends, and colleagues.

“Family support is very important for someone like me,” he added. “With it, I feel more positive and don’t dwell on negative thoughts. Without my family, I would have easily become depressed and given up.

“My advice to anyone in my position is to be strong and positive so we do not become a burden to others, even as we work towards goodness and find more ways to support others with rare diseases.”

For more information, visit the Malaysia Lysosomal Diseases Association here, and the Malaysian Rare Disorders Society.