Marian McGlocklin has been diagnosed with Alzheimer's and faces an uphill battle for a normal life
A couple have shared their heartbreak after their toddler daughter was diagnosed with a terminal condition known as "childhood Alzheimer's".
Parents Sara and Paul McGlocklin, from California, grew concerned after their one-year-old daughter Marian started to forget how to say her first words, like "hi" and "bye".
Caters revealed thatafter several months, the toddler was diagnosed with Niemann-Pick disease type C (NPC), a rare disease which causes mental and physical deterioration similar to Alzheimer's.
Her parents are trying to find a treatment plan that will work. Photo / Caters
There is currently no cure for the condition and most cases are fatal. However Marian is undergoing investigative treatment to improve her quality of life and has since started to remember words and actions she had previously forgotten.
Sara said without the treatment Marian "would likely die". She continued: "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.
Marian, Emily, Sara and Paul. Photo / Caters
"After her last round she seemed stronger than ever and a few days later she took her first steps.
"About a year ago I didn't know if she'd ever be able to crawl, it felt so far away, so to see her starting to take steps today truly feels like a dream come true."
The family are now hoping to raise awareness and funds to aid research before Marian loses the ability to move, eat, speak and even breathe.
: Sara and Paul noticed Marian, pictured, was not reaching milestones. Photo / Caters
Children's attorney Sara, 34, and Paul, 33, who also have a four-year-old daughter, Emily, noticed Marian was not reaching developmental milestones on time.
Sara said: "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."
Sara said doctors at first insisted there was "nothing wrong" and it rook seven months before Marian was diagnosed with NPC in February.
Sara continued: "Receiving the news that Marian has NPC was devastating and we want to do everything we can to help her survive it."
Marian learned how to talk but later forgot how to say her first words. Photo / Caters
Niemann-Pick type C affects fewer than 3,000 children worldwide and sufferers rarely live past the age of 10. Symptoms can include enlarged organs, loss of balance, muscle stiffness, dementia and difficulty speaking.
In most cases children develop normally in their early years before slowly losing the ability to walk and talk. However Marian was born with the developmental delays and so her progress has been "really slow in some areas", Sara said.
She continued: "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."
Weeks after Marian's diagnosis, Sara and Paul were told about a clinical trial in Chicago that could stabilise the devastating condition.
While Marian is too young to be enrolled onto the trial, she is eligible for compassionate use of the drug Cyclodextrin (VTS 270).
Marian receiving treatment in hospital. Photo / Caters
Sara said: "Since February she has had five rounds, we have to fly to Chicago each time where the drug is administered by a lumber puncture.
"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.
"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."
The family has set up a fundraising page to cover medical expenses.
Marian and Emily. Photo / Caters
She added: "Everything Marian does is something we are deeply grateful for, each milestone she reaches is something that I feared she would never be able to do.
"The treatment she is undergoing isn't a cure, but hopefully due to medical advances she could be one of the first of her generation to survive the disease.
"NPC is extremely underdiagnosed and we hope that more awareness will help to fight this awful disease."
