Emma Austin appeared to be a “healthy, cheerful and happy” child.
But at the age of two and a half, her mother Kirstie began to fear something was wrong when Emma began to have difficulty putting on her shoes and using cutlery.
Her parents took her to see the doctors, who said that their daughter was fine and had no problems.
However, about six months later, and while driving Emma to preschool, Ms Austin said she heard “strange mumbling noises” in the back of the car and turned around to discover her daughter was having a seizure.
What followed was a panicked trip to the hospital and a series of genetic tests that diagnosed him with the rare Batten disease CLN2, a rare disease in 200,000, a form of childhood dementia.
The disease causes children to gradually lose the ability to speak, walk, see and swallow, and sufferers 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 you of the ability to talk, walk and run.
The little girl already knows that she is different, her parents say, and it is difficult for her to play with other children
Describing her daughter, Ms. Austin, who is from Bridgetown, Texas, said Inside edition: ‘Emma was a healthy, cheerful, energetic and happy girl. We didn’t have any problems, no signs, nothing.
‘It started with a speech delay and then a bit of motor delay.
“In just six months, I was getting progressively worse and that maternal, gut instinct in me was telling me: something is wrong.”
In a video on TikTok, the mother also described how her daughter had gradually lost the ability to go to the bathroom and had sleep disturbances and sudden outbursts of anger as her third birthday approached.
After the seizure in April 2021, Emma was diagnosed with Batten disease the following month.
His body lacks the TPP1 gene, needed to produce an enzyme that removes waste from the brain and spinal cord.
This leads to a gradual buildup of waste in the cells, as in some Alzheimer’s patients, causing patients to suffer gradual mental decline.
Patients only live a few years after symptoms begin, but doctors say that if a child develops symptoms around age 10, they may live to be 20 years old.
Revealing the diagnosis via a Zoom call, due to the Covid pandemic, doctors said Emma would gradually lose the ability to speak, walk, see and swallow and that there was no cure for the condition.
The family now battles the disease every day, and Mrs Austin left her job to become her daughter’s full-time carer.
He can still do many things that other children can do, which parents believe is due to the biweekly infusions of an artificial enzyme he is receiving.
Emma is now almost seven years old and can still walk, run and see, and can still eat and swallow.
His parents believe this is due to a twice-weekly infusion of the enzyme he is missing to help eliminate waste.
The enzyme replacement therapy is called Brineura and is a man-made version that is administered directly to the brain.
GoodRx listed it as the eighth most expensive drug in the US in 2022, with one dose costing around $35,000.
Although her condition has improved, Ms Austin said she is still struggling: ‘The awareness when we have playdates or she’s on a playground and she’s around other kids, she just stands there alone and stares.
“And you can see it in his eyes, you can see he’s wondering, ‘Why can’t I do that?’
Her father Eric added: “Now that she’s growing up, you can see that she sees it, you can see that she recognizes that she’s different and that all her friends and cousins have surpassed her.
“They’re doing things that she can’t do and that she knows she can’t do, and it’s really hard to see that.”
The little girl’s parents have been raising funds to buy equipment to help their daughter
The family is raising funds to help cover the cost of Emma’s medications, as well as the home modifications they need to make to her.
This includes the purchase of safety beds, safety seats, wheelchairs, and a supply of diapers and wipes.
So far it has raised $20,300 of the $50,000 goal in GoFundMe.
The family believes a cure for Emma’s illness may already have been found in Brazil.
The concoction, which can stimulate the body to start producing the enzyme Emma is missing, helped a patient during a clinical trial.
But the research was later abandoned because the company felt it could not make a profit from the drug.
The family is now fundraising together with the Batten Disease Research and Support Association (BDRSA) to buy the patent for the treatment and then develop it.
