A mother has shared the heartbreaking moment she was told that her 18-month-old daughter has Alzheimer’s disease.
Knowing that the disease is commonly associated to elderly people, the news about little Marian McGlocklin’s case came as a shock to her mum Sara.
In February this year, Marian was diagnosed with a rare metabolic disorder called Niemann-Pick disease type C (NPC1) — also known as childhood Alzheimer’s. She is one of only about 500 children worldwide who suffer from the illness.
NPC1 stops cells from processing and disposing of cholesterol that results in a harmful accumulation throughout the body, causing enlarged organs, lung damage, and slow and steady neurological deterioration this is what causes dementia.
Out of the 500 children, only half of them will see their tenth birthday without intervention. And the dementia means these children won’t be able to recognise their parents, and eventually will lose their ability to eat, speak, move, or even breathe.
In a GoFundMe page, Sara has shared her family’s struggles in coping with Marian’s extremely rare disease after being left heartbroken when told that it was fatal. “When Marian was born, we knew there was something slightly unexpected, her legs were so thin, her cry a little quiet. But never did we imagine she was showing early symptoms of a progressive, fatal condition,” she wrote.
The family then reached out to other families suffering with NPC1 and quickly learned there was hope. Through a clinical trial of drug cyclodextrin, Marian’s life could be saved.
Cyclodextrin is a sugar compound found in fat-free dressing and margarine. Early trials have found it can stabilise children in decline, halting the progression of their illness something that was thought to be impossible a few years back.
Now, a facility in Chicago in the US can help NPC1 sufferers through a treatment that will be administered through a spinal tap, and has to be given every two weeks indefinitely to be effective.
However, the approval for the treatment is pending in California, where the McGlocklin family lives, so, for now, they opt to fly to Chicago every two weeks until it is approved locally.
Gene therapy, which has been tested on mice, has also been encouraging in the search for a more permanent cure for NPC1, but the McGlocklin family have not much time left before the disease can cause irreversible degeneration in Marian’s cells.
Source: Essentialbaby.com.au
