According to a story from Statesman Journal, nine year old Haley Pollman isn’t so different from most other girls her age. She loves dresses, Barbie dolls, and animals, and still loves riding her pink jeep or moped on the family driveway. Haley also likes both snow and water skiing. Despite all of this, Haley is blind. This is a result of Batten disease, a genetic disorder that she was diagnosed with in October of 2017. Although the news was dire, the Pollman family has decided to take the diagnosis as a call to action.
About Batten Disease
Batten disease is a nervous system disorder that tends to appear between the ages of five and ten years. This neurodegenerative disease is caused by mutations which affect the CLN3 gene. Girls tend to display symptoms later than boys, but their disease tends to progress more rapidly. Diagnosis is often difficult. Symptoms include seizures, vision problems, repetitive speech, learning regression or delays, scoliosis, decreased muscle and body fat, changes to personality and behavior, poor coordination, and speech loss. Symptoms generally progress over time. There is only one drug for Batten disease that can slow progression, but it is only effective in certain cases. Most treatment is supportive, and the disease is ultimately lethal. There is a dire need for more effective therapies to improve survival times and outcomes for patients with Batten disease. To learn more about Batten disease, click here.
The Pollman family set up the Haley’s Heroes Foundation in order to raise money for Batten disease research. Parents Dean and Melissa have been communicating with a South Dakota research lab that is developing a gene therapy for the disorder. They have been using their foundation to raise funds for a clinical trial. Last year, the Haley’s Heroes Foundation was able to raise an impressive $900,000.
Dean believes that the research has a real shot at a cure and hopes that the foundation will raise at least as much money this year as it did last year. Dr. Jill Weimer, who leads the research team from South Dakota, says that a clinical trial could be ready for Haley’s form of Batten disease in about six months to a year. Haley has the juvenile form of Batten disease, in which the CLN1 gene is affected.