A young Texas girl, Isla Edwards, was only seven years old when her life took an unexpected and devastating turn. It all started with a routine eye exam in March 2021, a seemingly innocuous event that revealed a medical secret that would forever change the course of Islay’s life and the lives of her family members.
For any parent, taking their child for a routine check-up is a combination of responsibility and reassurance. It’s an opportunity to make sure their baby’s health is on track, a moment of reassurance that everything is okay. However, what transpired during Islain’s eye exam was far from routine or comforting. It was a moment that shattered the sense of security Isla’s family held dear.
Isla innocently mentioned that her vision seemed slightly blurry when looking at objects in the distance during her annual vision test. It’s the kind of comment that can easily be dismissed as a side issue, perhaps just a sign that she needs glasses. Yet it was this seemingly minor observation that spurred her mother, Jacquelyn Stockdale, into swift action.
Jacquelyn Stockdale, Isla’s mother, drove Isla, now 10, 90 minutes to Texas Children’s Hospital in Houston the same day because she needed to see a pediatric ophthalmologist right after the exam.
Jacquelyn claimed that at this point there were no signs that anything was wrong with Isla. She was a small child, on the verge of needing glasses, but her vision was only slightly impaired from a distance.
After visiting Isla, she was diagnosed with Batten disease, a rare and serious condition. Children who experience it have developmental deficits, seizures, blindness, and premature mortality.
Doctors confirmed that Isla had early signs of juvenile macular degeneration, and Jacquelyn explained that a genetic test would be necessary to determine the root cause. They took samples from her lips and planned to see her again in August when the results of the genetic test were available.
She said Isle was diagnosed with neuronal ceroid lipofuscinosis on Aug. 12, based on the findings of her DNA panel.
After further discussion, they learned that juvenile Batten disease, also known as CLN3, is the most common name for the disorder. It is a fatal disease that is extremely rare, severely disabling, and incurable.
Isla has childhood dementia, and epilepsy and will soon lose all her sight. He also begins to lose his mental and physical abilities. A child who has CLN3 can predict that they will live into their late teens or early 20s.
In the three years since her diagnosis, Isla has already lost 90% of her vision. However, according to her parents, she is coping well with the loss and has even started learning Braille.
Jacquelyn said: “They are extremely pleased with where Isla is at right now. She has lost her vision substantially since 2021 and currently only has about 10% left. She has adapted to her current level of vision but continues to enjoy the same activities she did before, including swimming, dancing, and playing video games.
These words are a testament to the enduring strength of the human spirit, the ability to find moments of joy and fulfillment despite overwhelming adversity. Isla’s journey is a poignant reminder of the importance of resilience, love, and the unwavering support of family in the face of life’s toughest challenges.
As Isla and her family continue to navigate the complexities of juvenile Batten disease, their story serves as a source of inspiration and a call to action. While there may not currently be a cure for this devastating condition, there is hope that increased awareness and research may lead to breakthroughs that may one day change the course of this cruel disease.
Meanwhile, Isla’s story is a poignant reminder of life’s fragility and resilience. It emphasizes the importance of cherishing every moment, keeping your loved ones close, and never giving up hope, no matter how dark the road may seem. Isla’s indomitable spirit shines as a beacon of strength and courage, illuminating a path of love, perseverance, and unwavering determination in the face of the unimaginable.