“You never expect in a million years that it can happen to you as a family,” says Chloe Hakimi, recalling the devastating moment that she and her husband were told that their baby boy had the rare genetic disorder Tay-Sachs.

Tay-Sachs is a neurological disease in which the body does not produce enough of a certain enzyme, leading to the progressive loss of brain function. It usually results in early-childhood death, and there is no cure as yet. Furthermore, it is more prevalent in the Ashkenazi population.

Although Chloe, 35, experienced no complications in her pregnancy or birth, she became concerned when Marley, a cherubic fair-haired toddler, who is now 18 months old, kept coming down with bronchiolitis and chest infections. He then failed to reach any of his milestones. While others told her not to worry about her baby not rolling over, sitting up or responding to his name, Chloe could not help but compare him to her older son Hudson, now three, who had met all his milestones early.

Later when Marley was admitted to hospital for frequently startling, as Chloe and her husband anxiously waited, they started Googling what could be affecting their baby. Tay-Sachs came up. “We thought: ‘Surely it can't be Tay-Sachs.’”

Baby Marley

When a doctor observed cherry red spots in Marley’s eyes, the hospital immediately undertook genetics tests on the family, and, in May, it was confirmed that he had the Tay-Sachs HEXA gene.

“I remember a doctor came in to talk to us, and it was going in one ear and out the other. And then we came home, and we were like: ‘Oh my God, what do we do with this information?’”

Chloe, from Essex, had been freelancing as a PR but quit her work as soon as she received the diagnosis. “I just wanted to be with him 24/7. I love working, but right now, it's not a priority. This has changed all our lives.”

She adds: “I feel like you go one way or the other. You either lie in bed and you don't show your face, or you're positive and you get on with it. And from day one, I was like: ‘Let's do this. We'll be fine.’ I've had a very positive attitude the whole way through, and it's given us more strength as a family.”

It has pushed the family to be especially proactive in arranging special outings and making memories. It has also made them aware of the little things that could improve the quality of Marley’s life.

“If Marley is sat in his chair and no one's giving him attention, we go straight up to him to make sure he's never bored,” says Chloe, who describes her son as “an angel”.

“He's just such a calm, gorgeous boy. He's so happy and content, he never cries. He just enjoys being in people's company and he loves cuddles and being held. He loves his brother and family. He loves being out for walks, he just loves anything that we do with him. You sit him anywhere, and he looks around and smiles and giggles. He's just gorgeous.”

"Gorgeous, calm" baby Marley enjoying his toys

The family home in Essex is now full of equipment to make Marley’s life as comfortable as possible. Since feeding is a challenge because of Marley’s limited head control, they have a specialist chair to keep him upright and support his head and back that they take everywhere with them. The Cure and Action for Tay-Sachs (CATS) Foundation gave the family a pea pod chair, which safely cocoons Marley, and they now have a standing frame to help strengthen his legs and give him a different view to look at the world around him.

Tay-Sachs occurs when a child inherits a mutation in the HEXA gene from both parents. And since one in 25 Ashkenazi Jews are carriers, Chloe urges all young people to get tested.

“People should be getting tested before they try for a family, because when you're pregnant, it's too late,” she says. “I don't think people really understand how important it is, and, if you're a carrier of Tay-Sachs, how dangerous it can be, and detrimental to the family. If you're Jewish, don't start a family until you've had the test.”

Both her sisters have since been found to be carriers of the faulty gene after Jnetics offered them genetic testing. “We would never have known. No one had told me about Tay-Sachs and why it was so important to get the test. Jnetics is a vital community charity to help people; you don't want this to happen to your family,” says Chloe.

Marley has a standing frame to strengthen his legs and give him a different perspective of his surroundings

The family has also been supported by Camp Simcha, which has organised Ubers to their hospital appointments, booked memorable days out for the family and sent a photographer to take pictures at Hudson and Marley's joint birthday party.

“When we were in hospital for Marley's operation [for a feeding tube] in Great Ormond Street, one of the girls from Camp Simcha came and dropped off some lunch for us and put the biggest smile on our faces. We were just so grateful.

“The team [at Camp Simcha and the hospital] we have around us has been incredible. We've never been on our own. When you have a child that's poorly like Marley, you get the best care.”

In addition, Chloe cites Haven House Hospice for its “incredible support”, with private physio, yoga and music therapy.

Chloe feels that knowledge of the condition is better in north-west London than in Essex, so she is planning a local event for March in conjunction with Jnetics to educate people about rare genetic disorders and the importance of being tested and to encourage them to sign up for screening.

Chloe Hakimi with sons Hudson and Marley

When Marley was diagnosed, Chloe's sister, Courtney Green, a star on Towie, posted on Instagram about her beloved nephew and his condition. From that moment, Jnetics had an influx of interest in their screening programmes.

“Hopefully, Marley's making some sort of impact, and he's helping to change the world and make people aware of rare genetic disorders that can be easily avoided by having a test.”

Nicole Gordon, CEO of Jnetics, says: “We are hugely grateful to the Hakimi family for sharing Marley’s story to ensure young people get tested through Jnetics. A simple cheek swab test can prevent children being born with one of the 47 devastating genetic disorders that Jnetics tests for, including Tay-Sachs.”

For information on Jnetics testing for Tay-Sachs and 46 other recessive disorders, click here or go to https://www.jnetics.org/getting-tested/disorders-we-test-for/

If you are a student, sign up here by November 10 to be tested at university by Jnetics or go to https://www.jnetics.org/oncampus/

You can support Jnetics’ life-saving work througth their match-funding campaign on November 10 and 11. Click here or go to www.charityextra.com/jnetics

Jnetics need to raise £600,000 to meet the increased demand across all its recessive screening services and inform the community about the new NHS BRCA testing programme (www.jewishbrca.org), for which Jnetics, together with Chai Cancer Care, is a recognised engagement partner.