Ms Iris Quek, 43, was diagnosed in 2021 with Melas syndrome, a rare genetic disorder that afflicts 10 people in Singapore. ST PHOTO: JUDITH TAN
SINGAPORE – Ms Iris Quek had returned from the United States – where she had lived since 2018 – to attend the funeral of her husband’s grandmother, when she felt unwell.
It was June 2020, and she was then 39.
“I was seeing specks flying around in my eyes and subsequently I could no longer control my eye movements,” the petite 43-year-old told The Straits Times recently.
She consulted a polyclinic doctor and was referred to the Singapore General Hospital (SGH).
The doctors at SGH suspected Ms Quek was having a series of strokes, and she was hospitalised for observation.
Ms Quek was then put through a battery of tests and was diagnosed with Melas (mitochondrial encephalopathy, lactic acidosis and stroke-like episodes) syndrome in July 2021.
“It was the first time I had heard of such a condition,” Ms Quek said slowly. “By then, my brain was not working too well and I was not processing what Dr Kaavya was saying. It was a good thing that my brother was with me.”
She was later transferred to Outram Community Hospital to undergo therapy. Unfortunately, her condition had become worse and she could no longer remember names or recognise faces.
“The Covid-19 pandemic made things worse. Only two people were allowed to visit and for five minutes each time. By then, I could remember only three people – my brother, my husband and my sister-in-law. It took me a long time to recognise my parents,” she said.
The treatment for this condition is different from that for stroke.
Dr Kaavya said: “Instead of blood thinners that we give for stroke, we had to start her on a very high dose of supplements to stop the mitochondrial crisis.”
Melas syndrome is a rare genetic condition, affecting one in 100,000 adults globally, but the disease typically begins during childhood, with symptoms sometimes developing before the age of two.
Only 10 people in Singapore, including Ms Quek, have been diagnosed with the condition and are being treated for it.
Melas syndrome affects the body’s systems, particularly the brain, nervous system and muscles, by affecting the activity of the mitochondria of cells in the body which help turn food into energy and allow cells to function.
“Mitochondria are like the battery unit of every cell in the human body that creates energy to drive cellular function and all of our biological processes,” said Dr Kaavya, adding that mutations in a particular gene can impair the ability of mitochondria to make proteins, use oxygen and produce energy.
She said these mutations affect both men and women, but children inherit the disorder only from their mothers. Early symptoms of Melas syndrome include muscle weakness and pain, recurrent headaches, loss of appetite, vomiting and seizures. Affected individuals experience stroke-like episodes before turning 40.
When the stroke-like episodes occur repeatedly, they can progressively cause damage to the brain, leading to vision loss, problems with movement and dementia.
Over time, the symptoms will worsen and become fatal.
“The condition manifests in many different ways,” Dr Kaavya said, adding that the proportion of affected mitochondria in any particular organ matters. “If 80 per cent of your mitochondria is affected, then you probably will present in infancy. Whereas if about 30 or 40 per cent is affected, then you will present in adulthood.”
Like many people with the condition, Ms Quek is thin and petite, and went through her childhood without being symptomatic.
Dr Kaavya said people with Melas “can have a very large constellation of conditions”. Having diabetes when they are young “is one of them, hearing loss is another and night blindness is a third”.
There is no cure for Melas syndrome, but doctors manage its symptoms with a combination of treatments such as anti-seizure medication for stroke-like episodes and supplements “to bypass the blocked pathways”, Dr Kaavya added.
The supplements include arginine, an amino acid that is necessary for making proteins and is naturally found in red meat, poultry, fish and dairy; citrulline, an amino acid found in watermelon; and coenzyme Q10, which bodybuilders take to increase muscle bulk.
“The reality is these patients take almost 15 to 20 pills three times a day. A lot of times, getting the medication and supplements in a form that is palatable is not easy,” Dr Kaavya said, adding that patients spend large amounts of money buying the supplements.
Apart from her medication for seizures and diabetes, Ms Quek spends $400 a month on supplements. She is fortunate that her husband, who is still working in the US, can buy the supplements there as they cost less and are available in higher-dose formulations than in Singapore.
Dr Kaavya said: “The pill burden from the supplements for Melas patients is very high. The formulations we have available for carnitine and arginine are 500mg each, which is difficult when you need 12g to 15g of arginine and 3g of carnitine a day. That alone (without diabetes or seizure medications) would be 30 to 36 pills per day.”
She added: “There are other higher-dose formulations internationally that some patients buy... but not all patients have that option. It would be good to have higher-dose formulations available locally that could help patients.”
Ms Quek returned to the US with her husband in 2022 and consulted a Melas syndrome specialist at the Phoenix Children’s Hospital, where she underwent speech therapy and “was given homework to exercise my brain”.
She came back to Singapore in October 2023 for a family wedding and continues to manage her condition here with Dr Kaavya’s help.
Ms Quek lives with her parents, who take turns with her brother to look after her needs and help her manage her health.
“I need to take 13 pills and capsules every morning and nine in the evening to keep my symptoms at bay. My hands continue to shake and I still cannot stand for too long,” said Ms Quek.
“I am still not able to concentrate properly, but I continue to live to the fullest, a day at a time”.
