Subtle symptom showing that the ‘healthy’ girl had DEMENTIA and had only a few years left to live
Emma Austin turned out to be a ‘healthy, vibrant and happy’ girl.
But at the age of two and a half, her mother Kirstie began to fear something was wrong when Emma began struggling to put on her shoes and use cutlery.
Her parents took her to the doctors, who said her daughter was doing well and there were no problems.
But about six months later, while taking Emma to preschool, Ms. Austin said she heard “strange mumbling noises” in the back of the car. When she turned around, she discovered her daughter was having a seizure.
What followed was a panicked trip to the hospital and a series of genetic tests that revealed she had the rare disease CLN2 Batten, a form of childhood dementia.
The disease causes children to gradually lose the ability to talk, walk, see and swallow, and patients usually do not survive more than five years after symptoms develop.
Emma Austin, who is almost seven years old, has been diagnosed with Batten disease. This is a genetic condition that gradually robs her of the ability to talk, walk and run
The little girl already knows she is different, her parents say, and has difficulty playing with other children
Mrs. Austin, originally from Bridgetown, Texas, describes her daughter Inside edition: ‘Emma was a healthy, vibrant, energetic, cheerful girl. We had no problems, no signs, nothing.
‘She started with a speech delay and then a little bit of motor delay.
‘In just six months it got worse and worse and that mother and gut instinct in me thought: something is wrong.’
In a video on TikTok, the mother also described how her daughter had gradually lost the ability to go to the potty and developed sleep disorders and sudden fits of anger as she approached her third birthday.
After the attack in April 2021, Emma was diagnosed with Batten disease the following month.
Her body is missing the TPP1 gene needed to make an enzyme that removes waste from the brain and spinal cord.
This leads to a gradual build-up of waste in the cells, as in some Alzheimer’s patients, causing patients to experience gradual mental decline.
Patients live only a few years after symptoms begin, but doctors say that if a child develops symptoms around the age of ten, it is possible for them to live into their early twenties.
Revealing the diagnosis via a Zoom call, doctors said that due to the Covid pandemic, Emma would gradually lose the ability to talk, walk, see and swallow and that there was no cure for the condition .
The family is now battling the disease every day, with Mrs Austin quitting her job to become her daughter’s full-time carer.
She can still do many things that other children can do, which parents say is due to the biweekly infusions of a man-made enzyme she receives.
Emma is now almost seven years old and can still walk, run and see and can still eat and swallow on her own.
Her parents believe this is due to a biweekly infusion of the enzyme she is missing to help clear waste.
The enzyme replacement therapy is called Brineura and is a man-made version of it that is administered directly into the brain.
It was listed as the eighth most expensive drug in the US by GoodRx in 2022, with one dose costing about $35,000.
Although it has improved her condition, Ms Austin said she is still struggling: “The realization that when we have playdates or when she’s at a playground and around other kids, she just stands there by herself and stares.
‘And you can see it in her eyes, you can see her wondering, “Why can’t I do that?”
Her father Eric added: “As she gets older, you can see that she sees it – you can see that she realizes that she is different and that all her friends and cousins have moved on from her.
“They’re doing things that she can’t do and that she knows she can’t do, and it’s very hard to see that.”
The little girl’s parents have raised money to buy equipment to help their daughter
The family is raising money to cover the cost of Emma’s medication, as well as the home adjustments they need to make for her.
This includes purchasing safety beds, safety chairs, wheelchairs and a supply of diapers and wipes.
It has raised $20,300 of its $50,000 goal so far GoFundMe.
The family believes that a cure for Emma’s condition has already been found in Brazil.
The concoction, which can stimulate the body to make the enzyme Emma is missing, helped a patient during a clinical trial.
But the study was subsequently stopped because the company felt it could not make a profit on the drug.
The family is now raising money with the Batten Disease Support and Research Association (BDRSA) to buy the patent for the treatment and then develop it.