A Texas elementary school student received a devastating health diagnosis when her school teachers thought she simply needed eyeglasses.
Isla Edwards, then seven years old, had an optician see her mother, Jacquelyn Stockade, in March 2021, after the school informed her mother that she should have her vision checked.
Stockade, 34, was told. s optician explained she needed to see a specialist immediately and Ms Stockade drove her to Texas Children's Hospital, 90 minutes away.
The doctors, who performed a genetic test, swabbing the inside of her mouth to determine the cause, said Edwards had paediatric macular degeneration.
The family eventually found out their daughter had a terminal illness called Batten disease, which was a life-threatening condition.
The Batten disease is a group of 13 different fatal genetic disorders. They affect the body's ability to rid itself of cellular waste, such as proteins and lipids, which eventually accumulates in cells throughout the body. Children with Batten disease are affected by seizures, vision loss, difficulties moving and thinking, and death.
Batten disease is very rare, and it affects about three in every 100,000 people born in the United States, according to the Cleveland Clinic.
It's more common in certain regions, with about one in every 25,000 babies having the disease. The condition is inherited, and siblings of children with the disorder have a 25 percent chance of having it as well.
While there is no cure for the disease, children with Batten disease often depend on a team of providers who address the numerous symptoms it causes.
They may prescribe medication that control seizures and physical and occupational therapy may also help some children retain their mobility for longer.
Stockade told newsweek about the jarring diagnosis.
Stockade was told about a clinical trial that is evaluating whether Miglustat, a drug that has been approved for a condition called Gaucher's disease, could also help children with Batten disease.
The family worried that she might be among the half of the trial participants who were given a placebo rather than the medication. The cost would be $18,000 a month, and they decided to pay for it.
Thankfully, Isla is doing well on the medication, he said.
'' A clear indication that this medication is working to stop the progression of the disease,'' she said.
She added that her daughter continues to play video games, dance, and swim, and that her family and care team are excited to continue watching her grow.
t be prouder and more hopeful for her future.