Ayoung Mount Gambier family with a terminally ill daughter have shared their heartbreaking story to raise awareness about their situation.

Sarah Hutchesson Webb and fiancé Jake Powell’s daughter Mia was diagnosed with Tay-Sachs disease in January, a neuro-degenerative disease which progressively destroys nerve cells within the central nervous system.

The disease is incredibly rare with a life expectancy of three to five years and there is currently no cure.

Seventeen-month-old Mia is lacking a vital enzyme called HEXA, which helps break down fatty substances called GM2 gangliosides.

“Because her body is not able to break down the GM2 gangliosides they build up to toxic levels,” Ms Webb said.

“So it is a pretty horrendous disease, it is a cause of childhood dementia.”

Ms Webb said the neurologist initially thought Mia had hyperekplexia, which is excess infantile startle syndrome, and prescribed Mia with a drug called clonazepam.

“We tried the drug, it did not work, her excess startle did not significantly diminish or stop as we were hoping, so that was the point where our neurologist said it was probably more of a genetic issue,” she said.

An MRI revealed Mia had little to no myelination, and white blood enzyme test results consistent with Tay-Sachs disease confirmed the diagnosis.

“It was a massive shock when we got the diagnosis,” Ms Webb said.

“We burst into tears, and within an hour of receiving the diagnosis I actually had quite a severe panic attack, I think it hit me in that moment the gravity of it all.

“It has been really tough, it has been devastating, as a parent you just want the best for your kids, and they are supposed to outlive you and realising that that is not our reality is devastating.

“It still lives with us every day, but we are learning to find joy in smaller things and appreciate life and spend the best time that we can with Mia, because she still needs her parents, she needs us more than ever and our two boys need us as well.

“I guess we are trying to balance that grieving process with also just being there for our children, and Jake and I being there for each other as a couple.”

Ms Webb’s friend started a GoFundMe page ‘Support little Mia and her family’ and Ms Webb said they had received an outpouring of love and support.

“Everyone has been outstanding; Our family and friends, the Mount Gambier Golf Club, the broader Mount Gambier community, our naturopath, paediatrician, neurologists, as well as the metabolics, respiratory, gastroenterology, allied health and palliative care teams,” she said.

“We have connected with other families around Australia and overseas as well who have children with the same or similar disease and the support from them is just amazing.”

Ms Webb said it was important to raise awareness of Tay-Sachs Disease and encouraged people to donate to foundations which raise money to find cures for rare diseases such as Tay-Sachs.

“We cannot even tell you what it would mean to us if they were to turn around in a year’s time and say they have found a cure, that would be literally life changing,” she said.

“Only two people had heard of Tay-Sachs Disease out of the hundreds of people that we have told.

“I think it is important for people to know there are these diseases out there that unfortunately have no cure.”

The family cherishes every moment together and are doing everything they can to ensure Mia lives a fulfilled life.

“We want to make sure that she has the best quality of life possible through the use of supportive equipment, medication, naturopathy, salt therapy, and enjoying quality family time, to keep her as healthy and happy as possible, with the hope of potentially prolonging her life so that we may just see a cure,” Ms Webb said.

“We have started organising family holidays and weekend day trips, even movie nights or special meal nights at home.

“Anything to spend quality time together and make the most beautiful memories as a family.

“We want to ensure her fight is not in vain by raising awareness and driving change in this area, and however we can do that we will do.”

Ms Webb said they had also been approached by the Starlight Foundation about taking a family holiday to Cairns, and local photographers had donated family photoshoots.

“They will be really precious ways to make memories as a family,” she said.

Visit the GoFundMe page via gofund.me/52bee8df to donate and help support the family.