Jake and Sarah share their heartbreak after learning 16-month old Mia has terminal illness

A regional community has wrapped itself around two parents who bravely spoke about the cruel disease that will rob the life of their baby girl.

Mia before she started developing symptoms of Tay-Sachs Disease. Picture: Supplied by family

Two parents have been left devastated and feeling “helpless” after learning their 16-month-old daughter is living with an incurable neurodegenerative disease that will likely claim her life before she turns six.

Sarah Hutchesson-Webb and Jake Powell’s daughter, Mia, was diagnosed with Tay-Sachs disease, a rare genetic disorder caused by the absence of an enzyme that helps break down fatty substances.

The fatty substances, called gangliosides, build up in the brain and spinal cord and become toxic and affect the function of the nerve cells.

The couple first started noticing a regression in Mia’s motor functions when the little girl was roughly 10 months old.

Mia has been diagnosed with a rare neurodegenerative disease, Tay-Sachs Disease, which eventually leads to blindness, deafness, and paralysis and ultimately her death. Picture: Supplied by family.

Throughout October 2022 the pair saw a myriad of doctors and specialists.

Mr Powell said prior to receiving Mia’s diagnosis the family had been stressed but “hopeful”.

“There was this big sense of ‘it’ll be something that we can fix’,” Ms Hutchesson-Webb said.

“Something that the doctors will turn around and say ‘we’ll give her this medication’ — (and) she’ll be fine.”

On February 2, the pair received a call from Mia’s neurologist who delivered the devastating news.

Unfortunately there is no cure, with Mia’s parents now focused on treating her symptoms and making her as comfortable as possible.

Sarah and Jake have been left devastated that they are unable to 'fix' their daughter Mia, who likely won't see her sixth birthday. Picture: Arj Ganesan

“We read that life expectancy is no greater than four or five years and Jake and I just burst into tears,” she said.

“You’re supposed to protect your children — with this diagnosis, we can’t — we feel helpless.”

Mr Powell said they have tried to explain what’s been happening to their two other sons, Hunter, five and Aston two and a half.

“They know something is wrong. They see mummy and daddy crying — but they don't really understand the gravity of it,” Ms Hutchesson-Webb said.

“Life has become about noticing the small things, making the most of the small things and learning to love and appreciate Mia in the here and now.”

Mia before she started developing symptoms of Tay-Sachs Disease. Supplied by family

The Mount Gambier community has rallied behind the couple with a simple raffle now exploding into a packed out charity auction to raise funds to support the pair.

Craig Foster, who helped spearhead the auction, said the Mount Gambier Golf Club was expecting roughly 400 people to attend the event.

“Everyone can feel for Jake and Sarah — in the last 48 hours I’ve had probably 10 to 15 businesses offer products it is growing by the hour,” he said.

“That's what you get in the country — we are a small community and everyone wants to help out others in a time of need.”

The pair thanked the community and the Mount Gambier Golf Club, whom Mr Powell works for, for its ongoing support.

A GoFundMe has also been set up to support Mia’s parents. Click here to donate.