Amanda Gilpin, a resident of Karratha in Western Australia, noticed that her little daughter occasionally would roll her eyes in response to some of her motherly advice. At times, she felt that she was not even listening.
A recent article in the Daily Mail Australia gave a different explanation. It was not an act of indifference, but the result of her daughter’s rare and fatal condition.
Concerned about growing problems with hearing, vision, schoolwork, and at times “staring into space,” Amanda took Holly to several doctors.
In April of 2021, after three months of waiting for test results, Amanda’s daughter Holly, then age five, was diagnosed with Batten disease. Batten disease is incurable and fatal. It is the cause of childhood dementia.
Holly has a rare type of Batten’s disease. It is called CLN5. There are only 80 cases in the world, and one other case of CLN5 in all of Australia. Life expectancy is determined by the form and onset of the disease. Children with infantile Batten disease may not live past early childhood. Children with the later-onset disease may survive into their teens through their thirties.
Amanda recalls how she and her husband were in shock after receiving the news; trying to be strong in front of their children, but Amanda now admits to crying uncontrollably for months.
Holly’s Disease Progression
The disease is gradually taking over. Holly at times may have seizures only a few minutes apart. Her mother says that Holly’s constant falls have taken a toll on her knees.
About Batten Disease
Batten disease is the generic name for a group of neurological disorders (neuronal ceroid lipfuscinoses (NCLs)) that primarily affect children. It is an inherited neurodegenerative disease and a common type of dementia in children.
Babies born with Batten disorder are generally healthy at birth but gradually display retinal and brain cell deterioration. The rate of progression of the disease and symptoms vary according to the type of disease.
The most common symptoms of the disease are impaired vision or blindness, epilepsy, language delay, dementia, ataxia (restricted body movements), changes in behavior, childhood psychosis, sleep disturbance, gradual motor decline causing the inability to communicate, and various types of tremors, convulsions, and restlessness.
Batten disease is at times misdiagnosed as epilepsy, autism, or childhood developmental disorders. Testing involves MRIs, EEG and other brain scans, biochemical tests to analyze specific enzymes, and genetic testing.
Looking Forward
Although both types of the disease are incurable, research has been accelerating throughout the world. Treatments using gene, stem cell, and small molecule therapies for Batten disease are now being investigated.
Amanda, her husband, their eldest daughter Madison, and Holly are moving to the United States thanks to a GoFundMe that covers certain tests, equipment, and six months of housing expenses. GoFundMe has a goal of $80,000. Approximately $60,000 has been collected to date.
The family hopes that after being given several qualifying tests, Holly will be chosen along with two other children to participate in a trial for an investigational drug.
Amanda admits that Holly does not have much time, but the test has given the family renewed hope.
