Toddler with alzheimer’s forgets first words as ravaging disease steals precious memories
A toddler with Alzheimer’s has forgotten her first words after the ravaging disease begins to steal her precious memories.
Adorable Marian McGlocklin, one, was diagnosed with childhood Alzheimer’s in February this year.
The fatal condition, otherwise known as Niemann-Pick disease type C (NPC), causes enlarged organs, loss of balance, muscle stiffness, dementia and difficulty speaking.
The toddlers devastated parents, Sara, 34, and Paul, 33, were told that their daughter might never walk and, despite learning to say her first words at nine months, she soon forgot them.
But Marian, from California, is now undergoing clinical trials to improve her quality of life.
Her devoted parents were delighted when the toddler finally took her first steps on June 11.
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, a children’s attorney, said: “Receiving the news that Marian has NPC was devastating and we want to do everything we can to help her survive it.
“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.
“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.
“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.
“We are so lucky that Marian has been allowed access to the investigative treatment, without it she would likely die which is terrifying.
“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.
“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.”
Marian’s condition, Niemann-Pick type C, affects less than 3,000 children worldwide and sufferers rarely live past the age of 10.
She added: “In most cases you can develop perfectly normally until the age of about four or even older and then you slowly lose the ability to walk and talk.
“But what Marian has is slightly different as she was born with the developmental delays and so her progress has been really slow in some areas.
“Doctors also told us that there was a 25 per cent chance that our eldest daughter, Emily, four, might have NPC too – but thankfully her results came back negative.”
Weeks after Marian’s diagnosis in February 2017, Sara and Paul were told about a clinical trial in Chicago that could stabilise the devastating condition.
And even though Marian is too young to be enrolled onto the trial, she is eligible for compassionate use of the drug Cyclodextrin (VTS 270).
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, https://www.gofundme.com/hopeformarian, to cover medical expenses and out of their $150,000 (£117,000) goal, more than $75,000 (£59,000) has been raised.
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.”
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