BABY WITH FATAL TAY-SACHS DISEASE TEACHES HER HONG KONG PARENTS TO CELEBRATE EACH DAY

Hong Kong teachers Simone and Ally Maclay find strength in community as they raise awareness of long-wished-for baby Freya's rare condition

Freya Maclay's story has touched many people - and tugged on every emotion.

She was born in Hong Kong in August 2022 after her parents, Simone and Ally, had spent three years trying to conceive. Freya was their miracle baby.

But almost a year later, their joy turned to heartbreak when Freya was diagnosed with Tay-Sachs disease, a rare condition in which toxins build up in the brain and spinal cord, leading to seizures, vision and hearing loss, paralysis and eventually death - there is no cure.

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Treatment of the disease is focused on reducing its symptoms and improving a patient's quality of life. Freya's case is the first in Hong Kong.

Symptoms in babies usually appear at around six months; the life expectancy of an infant with Tay-Sachs is between two and four years. Pneumonia is often the cause of death.

At a cafe in the Central district of Hong Kong Island, Freya lies motionless in her pram, her big blue eyes occasionally flickering. That is often a sign that she is having a seizure, says Simone. "She can have multiple seizures a day."

Australian-born Simone and Scotsman Ally, both teachers in Hong Kong, are well informed about Tay-Sachs, a disease that, until their daughter's diagnosis, they had not heard of.

It is rare - about one in 360,000 babies have it - and occurs when a child inherits a flaw in the Hexa gene from both parents. The gene is needed for a protein that breaks down and recycles toxic substances in the brain and spinal cord. About one in 250 people carry the mutation.

"A cruel disease" is a phrase Simone uses often. She says her pregnancy and birth went smoothly. "We were delighted when Freya was born ... at last we had the baby that we had wanted for so long."

From the get-go, Freya was a healthy baby, hitting all the milestones of progress, Simone says.

"She was lying on her tummy and lifting her head and looking around and smiling and playing with toys and laughing," she recalls. "Every time we went to the paediatrician, he told us she was thriving ... everything was perfect."

Then one day it was not.

In July 2023, the family left for a month-long holiday in Greece and Freya's baptism at a monastery that held a special place in their hearts.

"When we were trying to conceive, we prayed at the Tsambika Monastery on the island of Rhodes, where my family is from," says Simone.

The monastery is on top of a mountain and has stunning views of the Aegean Sea. According to local folklore, couples having difficulties conceiving will be blessed with children if they walk barefoot up the 300 steps to the monastery.

"When you've been trying to have a child for so long, you give anything a go," adds Ally.

The outpouring of support is heart-warming - a powerful reminder of the strength of community and the unlimited capacity for compassion

Simone Maclay

Six weeks later, Simone was pregnant. Freya was a "miracle baby".

"The local newspaper even ran a story," says Simone. "And if you fall pregnant after praying at the monastery then the baby must be baptised there - that's the deal."

It was during the trip for the baptism that the couple and their family noticed something was changing in Freya. She struggled to crawl and keep her head up.

"She would slump over, and while we were worried, we thought maybe it was heat related," she says. July 2023 was the hottest month recorded in Greece, with Rhodes battling 47-degree Celsius (116.6 degrees Fahrenheit) temperatures and deadly wildfires.

In Hong Kong the following month, Freya was diagnosed with Tay-Sachs disease. Her struggles to crawl could now be explained: muscle weakness and reduced coordination are symptoms, along with others such as exaggerated reactions to loud noises and difficulties swallowing.

Family and friends rallied behind the couple, who met at the Hong Kong Sevens rugby tournament, where Ally was representing Hong Kong.

The response, they say, has been overwhelming. A GoFundMe campaign was created in Australia to support Freya's medical needs. It has so far raised A$271,910 (US$179,000) of its A$300,000 goal.

They have been blown away by the love, compassion and generosity of the community in Hong Kong and further afield.

"The outpouring of support is heart-warming - a powerful reminder of the strength of community and the unlimited capacity for compassion. Our faith in humanity has been restored," says Simone.

"The support has not only raised funds for Freya and others but reinvigorated our determination to make a positive impact, letting us continue to spread awareness and support for those battling Tay-Sachs," adds Ally.

At the cafe, Ally takes out a bottle and tube and connects it to Freya's stomach.

"We feed her through a peg tube about four times a day, along with a complete milk feed with all her dietary nutrients," he says.

Freya is on a raft of drugs, including anti-seizure medication. "Occasionally, she needs oxygen," says Simone.

"She is 20 kilograms [44 pounds], and tall, so lifting her in and out of the bath is difficult." The average 23-month-old girl is about 11kg. "We're getting an OT [occupational therapist] to assess the house and make adjustments."

To say the past year has been an emotional drain is an understatement.

"I'm just happy that we took holidays last year to visit family and capture some special moments," says Simone. Today, travel is out of the question.

Taking one day at a time is a coping mechanism.

"I push all the nagging feelings back into the recesses of my mind and just live each day," says Simone, adding that Freya loves pool time and even has her own custom swimwear range from Budgy Smuggler in Australia as well as "Frey Frey" merchandise that includes a cap that Ally proudly wears.

South Australian winery Auld Family Wines launched a Frey Frey Cabernet Shiraz to raise funds and awareness, while Hong Kong-based French artist Elsa Jeandedieu, whose creative fingerprints adorn walls around the city, is planning a mural of Freya.

Raising awareness about the disease is now the couple's mission.

"Tay-Sachs is a rare disease but that has not stopped a small global community from raising funds in the hope of finding a cure," says Ally.

The experience, they say, has taught them many valuable lessons: celebrate each day and appreciate every moment.

"Freya inspires us daily with her unwavering resilience. Her strength serves as a reminder of the importance of our cause and the urgency to find a cure."

Details of Freya's fundraising efforts can be found at freyfrey.org.

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