A Texas elementary school student has been diagnosed with a rare disease that will lead to childhood dementia.
Isla Edwards was just seven when she had an eye test because her vision was “a little blurry at long distances.”
However, tests revealed there were problems with the inside of her eye, prompting her to be referred to hospital for more tests.
It was then she was diagnosed Batten disease – a rare genetic disorder that causes the brain to gradually shut down over five to 10 years.
The disease starts with subtle signs such as vision loss, but patients will eventually lose the ability to speak, move, see and swallow.
Isla Edwards was just seven when she had an eye test because her vision was “a little blurry at long distances.” But the test led to a visit to the hospital, where a genetic test revealed she had Batten disease – a rare genetic condition that causes the brain to gradually shut down over five to 10 years.
Pictured above is Isla with her mother Jacquelyn Stockdale and her father and sister. The family has fought to get her treatment for the disease
Isla is pictured above in hospital after undergoing a test. She now takes an $18,000-a-month drug that her mother says has stopped the progression of the disease
Isla’s mother Jacquelyn Stockdale said her daughter – who was otherwise healthy and enjoyed sports – has now lost 90 percent of her eyesight.
But her decline appears to have been halted by an $18,000-a-month drug called Miglustat – which is currently being tested as a treatment for people with the disease.
Mrs. Stockdale told it Newsweek: ‘At this point (of her diagnosis) there were no signs that anything was wrong with Isla.
“Her vision was a little blurry at long distances, but nothing unusual for a child who was about to need glasses.”
Isla was diagnosed with the disease in August 2021 after undergoing genetic testing at Texas Children’s Hospital, which involved sampling the inside of her mouth.
Ms Stockdale added: ‘I was (then) told that very soon Isla would lose her sight completely, develop dementia and childhood epilepsy, that her mental cognition would begin to decline, and that her physical abilities would also start to deteriorate.
“The life expectancy for a child with Batten disease was late teens to early twenties.”
Batten disease affects approximately one in 33,000 children in the US.
Patients have a genetic mutation that makes cells unable to break down and recycle fats and lipids, causing cells to gradually stop working as the fats build up in them.
Early warning signs include vision loss – caused by the build-up of fat in the retina, the light-sensitive part of the eye, causing the cells to stop working – but in later stages symptoms include seizures, movement problems and breathing changes.
There is currently no cure for the condition and patients do not live beyond their teenage years.
Ms Stockdale said that when she was diagnosed, she was recommended a clinical trial of Miglustat, sold under the brand name Zavesca.
The drug works by inhibiting the production of lipids in the body and is already approved for the treatment of Gaucher disease – another rare genetic disorder in which fatty substances also build up in cells.
The Food and Drug Administration (FDA) has approved trials of this treatment for Batten’s disease, but to avoid ending up in the placebo part of the study, where patients are given a fake drug, Ms Stockdale said the family is raising money to $18,000 to be paid. for the medicine every month.
She said once Isla started the medication, her decline stopped.
Isla has now lost 90 percent of her vision, but her mother says she currently has no other symptoms of the disease
Isla continues to swim and dance and also plays video games, her mother said. She is now learning Braille to help her read. The family is raising money to finance her treatment
Isla’s vision loss has stopped at 90 percent and there currently appear to be no other symptoms of the disease, her mother said.
She is learning Braille to help her read, but continues to enjoy sports such as swimming and dancing – and playing video games.
“We still have a long journey ahead of us, but right now all her doctors are floored by her progress,” she said.
“We couldn’t be more proud and hopeful for her future.”
‘Visual impairment is the only symptom she shows of this disease, and we are fighting with everything we have to ensure it stays that way.
‘On the day of diagnosis we were told that that day Isla would be the healthiest ever, and that she was at her peak; Two years later, and she has continued to defy that.’
She added: ‘We are confident that Isla will be one of the first children to change the history of this disease. She has broken every barrier and defied every expectation since day one, and we believe she will continue to do so until a cure for Batten disease is found.”