health
Ira Edwards was just seven years old when a routine eye exam revealed she had an incurable disease that can lead to early-onset dementia.
A Texas girl, now 10 years old, went to the doctor in 2021 to fix her “blurry” vision. Her mother, Jacqueline Stockdale, said she thought she might need glasses, but she never imagined she would receive a devastating diagnosis.
“At this time, no abnormalities were observed with Isla.” Stockdale, 34, told the magazine. this week.
“Her vision was a little blurry at long distances, but nothing unusual for a child who was on the borderline of needing glasses.”
An eye doctor took photos of Ira’s eyes, examined the images, and immediately sent the family to Texas Children’s Hospital in Houston.
![Ira Edwards being examined by a doctor](https://nypost.com/wp-content/uploads/sites/2/2023/09/NYPICHPDPICT000036089765.jpg?w=760)
![Ira Edwards being examined by a doctor](https://nypost.com/wp-content/uploads/sites/2/2023/09/NYPICHPDPICT000036089765.jpg?w=760)
“Doctors have confirmed that Ayla has early symptoms of childhood macular degeneration and will need to perform genetic testing to determine the cause. They swabbed her mouth and They scheduled me for a retest in August, when the genetic test results would be available,” Stockdale said.
“On August 12th, we heard that Ayla’s genetic test results came back positive for a diagnosis of neuronal ceroid lipofuscinosis. To explain further, this disease is commonly known as CLN3 juvenile Batten disease. , we now know that it is a very rare, very tragic and deadly disease for which there is no cure or cure.”
The Post has reached out to Stockdale for comment.
Batten disease is a group of fatal genetic disorders that affect the nervous system and the body’s ability to remove cellular waste, causing a buildup of lipids and proteins. According to the National Institute of Neurological Disorders and Stroke.
Symptoms usually include progressive vision loss leading to blindness, seizures, movement disorders, dementia, and early death.
![Ira and her family](https://nypost.com/wp-content/uploads/sites/2/2023/09/NYPICHPDPICT000036089770.jpg?w=1024)
![Ira and her family](https://nypost.com/wp-content/uploads/sites/2/2023/09/NYPICHPDPICT000036089770.jpg?w=1024)
“We were told that Isla would soon lose her sight completely, develop childhood dementia and epilepsy, begin to have poor mental cognition, and begin to decline in physical ability. Life expectancy for a child with CLN3 were in their late teens to early 20s,” Stockdale said.
Her family was completely heartbroken to learn of the hardships Isla would face.
“There was never any indication that she was a perfect, normal girl. I had to go home and sit with my family and tell them this news, and it was a really scary time,” Stockdale said. said.
The family ultimately decided not to tell Ira the details of her rare disease.
![Isla in the kitchen](https://nypost.com/wp-content/uploads/sites/2/2023/09/NYPICHPDPICT000036089760.jpg?w=760)
![Isla in the kitchen](https://nypost.com/wp-content/uploads/sites/2/2023/09/NYPICHPDPICT000036089760.jpg?w=760)
“While we have never discussed this with Ira, we still feel strongly that no child should have to carry the emotional weight of such a complex diagnosis,” Stockdale said. explained.
Two years after her diagnosis, Ira has already lost 90% of her vision but has adapted.
She is learning how to read Braille and walk with a cane.
Young Texans still enjoy their favorite activities, including swimming, dancing, and video games.
“We do not treat Isla’s vision loss as a sad situation or something broken within her. For us, it is very important that she knows that her visual impairment does not make her any less. If anything, it’s made her a stronger, more amazing person, and we couldn’t be more proud of who she is,” Stockdale said.
![Isla in the examination room](https://nypost.com/wp-content/uploads/sites/2/2023/09/NYPICHPDPICT000036089744.jpg?w=758)
![Isla in the examination room](https://nypost.com/wp-content/uploads/sites/2/2023/09/NYPICHPDPICT000036089744.jpg?w=758)
“Visual impairment is the only symptom she exhibits with this disease and we are fighting with all our might to make sure she stays on top of this disease. On the day of her diagnosis, we hope that day will be the only symptom Ayla has ever seen. “It’s been two years and she continues to defy it,” she continued.
Her family credits Ayla’s excellent outlook to the drug Miglustat, which she has been taking since November 2022.
Researchers are conducting clinical trials of miglustat, already approved by the Food and Drug Administration, for Gaucher disease, a rare genetic disease.
The drug seems to be working for Ira, but her family is struggling to pay the $18,000 monthly cost.
They turned to social media to share their stories; collect donations.
“Ever since Ira started taking this medicine, the deterioration in Isla’s eyes has stopped. This is a clear indication that this medicine is working to stop the progression of the disease. “It could mean they could be the first child to go on to live a full life, free from dementia, ataxia, physical and mental disabilities and epilepsy,” Stockdale said.
“We still have a long journey ahead of us, but all of her doctors are amazed at her progress at this time. We couldn’t be more proud and hopeful for her future.” ”
Load more…
{{#isDisplay}}
{{/isDisplay}}{{#isAniviewVideo}}
{{/isAniviewVideo}}{{#isSRVideo}}
{{/isSR video}}