The devastated parents of a 1-year-old girl diagnosed with Niemann-Pick disease type C (NPC) – described as childhood or toddler’s Alzheimer’s (though it affects adults, too) – have set up a Go Fund Me page to help raise money for further clinical trials that could save her life.
Marian McGlocklin’s mum and dad, Sara and Paul, from southern California, received the news about their little girl’s health back in February. The terrible condition – for which there is currently no recognised cure – means the toddler is starting to forget how to eat, speak and even breathe.
Niemann-Pick disease type C (NPC) affects less than 1 in 120,000 children worldwide, and Marian’s family are hoping that trials of a new drug could stop her disease progressing further.
Without the treatment, Marian would be more likely to develop Alzheimer’s as an adult, although her condition is generally regarded as life threatening, with little ones not expected to survive past the age of 5 if diagnosed as a baby.
Marian’s parents were told of drug trials of Cyclodextrin (VTS 270) in Chicago which could stabilise their daughter, and the little girl is now taking the meds, flying to the hospital every 2 weeks from the family home.
The pair first noticed there was something wrong with Marian when she was born. Writing on her Go Fund Me page Sara says they knew there was something ‘slightly unexpected’ as ‘her legs was so thin and she felt so delicate’.
By the time she was 9 months old, Marian began to say some words, but soon forgot them.
“We noticed Marian wasn’t reaching certain milestones on time, at first doctors told us there was nothing wrong with her and it took seven months for us to finally get a diagnosis,” Sara told the Sun.
“When she was around nine months old she learnt how to say ‘hi’ and ‘bye’ but suddenly one day stopped saying them regularly.
“Paul and I noticed this happening on a few occasions with new words or actions that she learnt.”
Fortunately, the current drug trials are working well, and Marian is still able to recognise her parents and reach some new milestones.
“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,” Sara explained, adding that Marian had even now taken her first steps.
The family now want to raise money so that Marian can continue her treatment, and that further research and trails into Niemann-Pick disease type C (NPC) can be undertaken to benefit her and other children.
“We are so lucky that Marian has been allowed access to this investigative treatment, without it she would likely die which is terrifying,” Sara says.
What a horrible, horrible thing for this family to go through. Our thoughts, love and prayers are with them ? ?
Pics: GoFundMe/Hope for Marian