An elementary school student from Texas has been diagnosed with a rare disease that will lead to childhood dementia.
Isla Edwards was just seven when she went for an eye test because her vision was a ‘little fuzzy at long distances’.
Tests revealed problems with the inside of her eye, however, prompting her to be referred to hospital for more tests.
It was then that she was diagnosed with Batten disease — a rare genetic condition that causes the brain to gradually shut down over five to ten years.
The disease begins with subtle signs such as vision loss, but sufferers will eventually lose the ability to speak, move, see and swallow.
Isla Edwards was just seven when she went for an eye test because her vision was a ‘little fuzzy at long distances’. But the test led to a trip to hospital, where a genetic test showed she had Batten disease — a rare genetic condition that causes the brain to gradually shut down over five to ten years
Pictured above is Isla with her mother Jacquelyn Stockdale and her father and sister. The family has been battling to get her treatment for the disease
Isla is pictured above in hospital after receiving a test. She is now on an $18,000-a-month drug that her mother says has halted the progression of the disease
Isla’s mother Jacquelyn Stockdale said her daughter — who was otherwise healthy and loved sports — has now lost 90 percent of her vision.
But her deterioration 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.
Ms Stockdale told Newsweek: ‘At this time [of her diagnosis], there were no signs of anything being wrong with Isla.
‘Her vision was a little fuzzy at long distances, but nothing out of the ordinary for a kid who was on the borderline of needing glasses.’
Isla was diagnosed with the disease in August 2021 after having a genetic test at Texas Children’s hospital, which was done by swabbing the inside of her mouth.
Ms Stockdale added: ‘I was [then] told that Isla would very soon lose her vision completely, develop childhood dementia and epilepsy, that her mental cognition would start declining, 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 about one in every 33,000 children in the US.
Sufferers have a genetic mutation that leaves cells unable to break down and recycle fats and lipids, which gradually causes cells to stop working as fats build up within them.
Early warning signs include vision loss — triggered by fats building up in the retina, light sensitive part of the eye, stopping its cells from working — but in later stages, symptoms include seizures, problems with movement and respiratory changes.
There is currently no cure for the condition and patients do not live beyond their teens.
Ms Stockdale said when they received the diagnosis she was recommended a clinical trial for Miglustat — sold under the brand name Zavesca.
The drug works by inhibiting the production of lipids in the body and is already approved for treating Gaucher’s disease — another rare genetic condition where fatty substances also build up in cells.
The Food and Drug Administration (FDA) has approved trials of this treatment for Batten disease but, in order to avoid being in the placebo part of the study where patients receive a dummy drug, Ms Stockdale said the family is raising money to pay the $18,000 for the drug every month.
She said that once Isla started on the medication, her deterioration halted.
Isla has now lost 90 percent of her vision, but her mother says that at present she has no other symptoms of the disease
Isla continues to swim and do dance and also play video games, her mother said. She is now learning Braille to help her reading. The family is raising money to fund her treatment
Isla’s vision loss has stopped at 90 percent and there do not appear to be any other symptoms of the disease at present, her mother said.
She is learning Braille to help her reading but continues to enjoy sports such as swimming and dancing — and to play video games.
‘We still have a long journey in front of us, but, as of right now, all her doctors are floored by her progress,’ she said.
‘We couldn’t be prouder and more hopeful for her future.’
‘Vision impairment is the only symptom she displays of this disease, and we are fighting with everything we have to ensure it stays that way.
‘We were told on diagnosis day that that day was the healthiest Isla would ever be, and that she was at her peak; Two years later, and she has continued to defy that.’
She added: ‘We firmly believe that Isla will be among the first children to change the history of this disease. She has broken every single 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.’
Source: | This article originally belongs to Dailymail.co.uk