7-year-old Isla Edwards suddenly found herself struggling to see. Her vision became fuzzy when trying to focus on objects at a distance. Her parents assumed this meant Isla needed glasses, but a routine eye exam revealed something far from routine: signs that Isla had a rare inherited disorder called Batten disease.
Isla’s Story
According to a report by the New York Post, Isla’s mother, Jacquelyn Stockdale, initially took her to an ophthalmologist for an eye exam to assess whether Isla needed glasses. However, during the examination and after taking photographs, the ophthalmologist expressed concern. He advised the family to visit Texas Children’s Hospital for a more thorough examination. It was there that the family received the diagnosis that Isla had pediatric macular degeneration, and further testing, including genetic analysis, would be required to determine its cause.
In August of that year, the test results came back, and the family received the news that Isla had juvenile CLN3 disease, or juvenile Batten disease. Symptoms of juvenile CLN3 disease typically emerge between ages 5-15, with vision abnormalities rapidly progressing. This condition can lead to seizures, cognitive decline, and developmental regression. Tragically, the family also learned that this condition is usually fatal in one’s late teens or early 20s, though some individuals have lived into their 30s.
Now 10 years old, Isla has adapted to her vision loss better than her family expected, and she continues to be the bright, lively girl they know her to be. Even though she has lost 90% of her vision, Isla is learning to use mobility aids and read Braille. She enjoys playing video games, dancing, and swimming, approaching them all with an enthusiasm for life. Doctors cautioned the family that Isla’s condition could significantly worsen or progress. However, in the years since her diagnosis, Isla has not shown any other Batten disease symptoms beyond vision loss.
In part, her family attributes this to the use of miglustat, a glucosylceramide synthase inhibitor typically used to treat Gaucher disease. Her vision loss has slowed since starting this medication just under a year ago.
Currently, the family is raising funds to support research and prepare for Isla’s short- and long-term healthcare needs. If you’d like to donate, you can do so here.
Batten Disease: An Overview
Also known as: Neuronal ceroid lipofuscinosis (NCL)
Batten disease refers to a group of rare inherited neurodegenerative diseases. There are 13 different forms of Batten disease, which vary in age of onset and progression. Batten disease is inherited in an autosomal recessive pattern. Those affected must inherit one mutated gene from each parent. These gene mutations prevent the body from adequately breaking down lipopigments. When these substances accumulate in body tissues, it causes neurons in the central nervous system to die, resulting in the symptoms of the disease. Unfortunately, there are no treatment options for most forms of Batten disease. Currently, the only available treatment is for children with late-infantile Batten disease (CLN2): Brineura.
Isla has CLN3. Symptoms of this form of Batten disease may include:
- Macular degeneration
- Optic atrophy
- Developmental abnormalities
- Motor skill regression—such as losing the ability to walk, speak, or communicate
- Seizures
- Sleep disturbances
- Muscle spasticity
- Sudden, involuntary muscle contractions
- Hallucinations
- Changes in mood, behavior, and personality such as aggression, anxiety, or unprovoked laughing and crying
