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A heartbroken family has opened up about the rare and incurable neurodegenerative disease that will callously claim the life of their baby boy before his sixth birthday.
The world of Sarah Hutchesson-Webb and her fiancé Jake Powell was recently turned upside down when their 16-month-old daughter Mia was diagnosed with Tay-Sachs disease, a rare genetic disorder that affects the nervous system.
The terminal condition is caused by a lack of a vital enzyme that helps break down fatty substances.
Without vital enzymes, fatty lipids build up to toxic levels within the central nervous system, leading to progressive nerve cell death.
Tay-Sachs disease has no cure and a life expectancy of four to five years.
Mia’s family is now focused on giving their baby the best quality of life possible and bravely shared her heartbreaking story to raise awareness of the ‘horrible’ disease.
Sarah Hutchesson-Webb and her fiancé Jake Powell recently received the news that their youngest daughter, Mia (in Sarah’s arms), has Tay-Sachs disease, which has a terminal prognosis.
“It’s a diagnosis I wouldn’t wish on anyone,” Ms Hutchesson-Webb told Daily Mail Australia.
‘All your hopes and dreams for your son are going out the window.
“We are still trying to understand and come to terms with the diagnosis.”
The South Australian couple from Mount Gambier first noticed a regression in Mia’s motor functions six months ago and have since seen a myriad of specialists trying to figure out what was wrong.
They were shocked and devastated when an MRI confirmed their worst fears earlier this month.
“Our hearts sank in a state of disbelief,” recalled Ms Hutchesson-Webb.
‘We realized that something was not right, but we continue to think that she had something that would be curable.
“I burst into tears when I looked it up on the internet afterwards.
“The hardest part is knowing that my only daughter will never walk down the aisle on her wedding day.”
Mia’s parents first noticed a regression in Mia’s motor functions when she was 10 months old. In the photo, Mia before the devastating diagnosis.
Sweet little 16-month-old Mia (pictured) won’t live to see her sixth birthday
Telling his young sons Hunter, five and Aston 2, was also difficult.
“Hunter knows his little sister is very sick, but Aston is too young to understand,” said Ms Hutchesson-Webb.
The mother of three described her youngest son as a sweet girl.
“If she had had the chance to grow up, she would have become a kind and loving soul,” he said.
Mia’s parents now focused on treating her symptoms to prolong her life and make her as comfortable as possible.
“The aim is to create beautiful memories with Mia and her older siblings and to keep her as healthy as possible,” Ms Hutchesson-Webb told Daily Mail Australia.
We don’t know how much time he has left.
The Mount Gambier community has rallied around Mia (pictured) and her family
“Of all the people I’ve talked to about Tah-Sachs since Mia’s diagnosis, only two have heard of the disease,” said Mia’s mother, Sarah Hutchesson-Webb.
‘Dealing with Mia’s diagnosis shows how much more we appreciate the little things in life.
“We are also desperately trying to raise awareness about this horrible disease that most have never heard of.
“Of all the people I’ve talked to about Tah-Sachs since Mia’s diagnosis, only two have heard of the disease.”
The tight-knit community of Mount Gambier has rallied around family as they prepare for the harrowing journey ahead.
Mount Gambier Golf Club, where Mr. Powell works as a greenkeeper, hopes to raise $15,000 in a family fundraiser this Friday night (February 17).
Sarah (pictured with Mia) is sharing her daughter’s heartbreaking story to raise awareness about the horrifying disease.
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Jake and Sarah are now focused on making sure their little girl has the best quality of life possible.
Organizers expect 400 locals to attend, while businesses have pitched in by donating dozens of auction prizes.
“We are speechless and so grateful for the incredible love and compassion you show us,” said Ms.
Hutchesson-Webb.
Friends have also established a online fundraising.
“For those who don’t know, your beautiful daughter Mia has been diagnosed with an incurable disease,” the page reads.
‘Tay-Sachs eventually leads to blindness, deafness and paralysis. Children with infantile TS usually die before the age of 5 years. Currently there is no cure.’
Jake and Sarah have two sons, Hunter and Aston, as well as baby Mia.