When six-year old Holly started rolling her eyes frequently and ‘choosing’ not to hear what people around her were saying, her mother chalked it down to childhood petulance. Little did she know that those were early signs of an extremely fatal and rare condition called Batten disease.
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What is Batten disease?
According to Cleveland Clinic, Batten disease is a group of fatal genetic disorders called neuronal ceroid lipofuscinosis (NCL). The condition is hereditary and cannot be cured or prevented.
The disorder makes it difficult for the body’s cells to break down and get rid of cellular waste such as sugars, proteins and fats. This waste piles up, causing problems with the nervous system, and resulting in death.
It is relatively rare, with the Batten Disease Family Association estimating that there are between 100 and 150 affected individuals currently live with the condition in the UK. People of Scandinavian or North European descent are more likely to have the disorder, according to Cleveland Clinic. Siblings of children with Batten disease have a 25% chance of having the disorder.
Symptoms
Six-year-old Holly Gilpin, the second child in Australia with one of the thirteen variants of the disease, would stare blankly into space for several minutes, was constantly rolling her eyes and ignoring people around her. Her parents, Amanda and Craig, said she was lagging behind in her class as well. Amanda said:
It was things like not being able to cut [something with scissors] in a straight line. She would sometimes stare into space and her eyes flickered. It’s hard to know if your kid is just ignoring you and being naughty, or can she actually not hear you.
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WebMD lists common symptoms of the disease as:
- Changes in personality and behaviour
- Speech and motor skills problems that get worse over time
- Dementia
- Seizures
These symptoms and others, such as vision loss, hallucination and disturbed sleep, only get worse with time. Statistics show that 75% of people with Batten disease do not make it to 18 years.
The family was shocked when they were presented with the MRI of her brain. Amanda said:
There was atrophy of the brain - it was basically wasting away. She was like an old dementia patient with lots of blank spaces in her brain.
Hope?
The only hope Holly’s family has now is that she will be selected for a trial for a new medication. The clinical trial will be done on three patients under the age of eight.
Holly, who is now seven, is eligible for the test and will be flying to the US in weeks to take part in initial tests to see if she’ll be selected for the trial.
A family friend has started a fundraiser to help raise money for the trip. Although hopeful that this trial might be the breakthrough they need, Amanda said if Holly isn’t selected, they will still create beautiful memories together.
She is an incredible girl. She loves Justin Bieber, animals and the movie Grease. None of that has changed.
