Californian parents Sara and Paul McGlocklin began to worry when their one-year-old daughter Marian started forgetting how to say some of the first words she had learnt.
“When she was around nine months old she learnt how to say ‘hi’ and ‘bye’ but suddenly one day stopped saying them regularly,” mother Sara explained, as reported by the NZHerald. “Paul and I noticed this happening on a few occasions with new words or actions that she learnt.”
The parent’s frantic concerns were explained by the little girl’s diagnosis in February: according to doctors she has Niemann-Pick disease type C, a terminal disease commonly referred to as “childhood Alzheimer’s”.
“The doctor[‘s] words still ring clear, ‘The test did show something and it’s serious’. Time stood still,” Marian’s mother wrote on a fundraising page for their toddler.
“To hear those words and know that something is wrong with her – it’s devastating. It’s something you just don’t want to think about,” father Paul told ABC7.
There are an estimated 100-2000 cases of NPC worldwide and most children will die before age 10 without treatment.
“She remembers who we are and doesn’t have any of the advanced symptoms just yet, but she does have a few early symptoms including forgetfulness,” Marian’s mother explained.
While there is no cure for the deadly condition, Marian has recently received investigative treatment of the drug Cyclodextrin (VTS 270). The little girl has since started remembering actions and words that she had lost.
“Marian is the youngest patient in the entire world to be receiving it, we are not 100 per cent sure what to expect but at the moment it seems to be working,” her mother told Mail Online.
“Marian is starting to remember the things she had previously stopped doing. And she is now using signs that she has learnt several times a day whereas before she would only remember them every couple of days.”
Sara added: “Over the past few months she has really come to life, I didn’t realise some of the things that she loved until she started the treatment.”
The family has launched a GoFundMe crowdfunding page to help contribute to medical expenses. You can donate here.
