Toddler diagnosed with ‘childhood Alzheimer’s’ is slowly losing the ability to eat, speak and even breathe
Marian was diagnosed with the condition in February and now her desperate parents are fundraising to cover the cost of clinical trials that could save her
AN ADORABLE toddler is slowly forgetting how to eat, speak and even breathe after being diagnosed with a rare condition that affects less than 1 in 120,000 children worldwide.
Marian McGlocklin, one, was diagnosed with a rare Alzheimer's-like disease in February this year.
The condition, called Niemann-Pick disease type C (NPC), causes enlarged organs, loss of balance, muscle stiffness and difficulty speaking.
The disease causes a build-up of fats on the liver, brain and spleen and a range of neurological problems similar to dementia.
The condition means little Marian is more likely to develop Alzheimer’s disease when she is an adult, if she lives past the average life expectancy of the disease.
Niemann-Pick type C is considered fatal but life expectancy depends on when symptoms begin.
If symptoms appear in infancy, the child isn’t likely to live past the age of five and if symptoms appear after five years of age, the child is likely to live until about 20 years of age.
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The toddler's devastated parents, Sara, 34, and Paul, 33, were told that their daughter might never walk.
But weeks after Marian's diagnosis Sara and Paul were told about a clinical trial in Chicago that could stabilise the condition.
Marian is being trialled on the drug Cyclodextrin (VTS 270), which is hoped will dissolve the build-up of fats causing her condition.
Sara and Paul began noticing something was wrong with their baby girl when she was less than a year old.
Despite learning to say her first words at nine months, she soon forgot them.
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."
Marian, from California, was finally able to take her first steps this month.
Sara and Paul are now hoping to raise awareness and funds to for research before Marian loses the ability to move, eat, speak and even breathe.
Sara added: “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 this investigative treatment, without it she would likely die which is terrifying.
What is Niemann-Pick disease type C?
Niemann-Pick disease type C is a rare inherited neurodegenerative disease that affects infants, children and adults.
It is caused by an accumulation of lipids in the liver, brain and spleen.
The age of onset and progression of the disease varies.
In some children neurological symptoms occur when they are very young, but it other symptoms may not surface for a number of years.
Cause:
It is inherited when two copies of a faulty gene are passed onto a child.
In every pregnancy of a couple who each carry a copy of the faulty Niemann-Pick gene, there is a 1 in 4 chance (25%) that their child will have the disease.
It is thought to occur in 1 in every 120,000 children.
Niemann-Pick type C is considered fatal but life expectancy depends on when symptoms begin.
If symptoms appear in infancy, the child isn’t likely to live past the age of five and if symptoms appear after five years of age, the child is likely to live until about 20 years of age.
Symptoms:
- jaundice at birth
- enlarged spleen or liver
- difficulty with upward and downward movement
- unsteady gait and trouble walking
- slurred speech
- learning difficulties
- sudden loss of muscle tone
- tremors
- swallowing problems
Treatment:
There is no cure for Niemann-Pick disease type C, although many patients are offered palliative care.
There are a number of clinical trials currently taking place in the hope of finding a cure.
“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.
“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 is thought to affect 1 in 120,000 children worldwide.
In many cases the symptoms develop when the child is around five years old, but Marian showed symptoms early on.
Sara added: "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.”
Sara said: “Since February she has had five rounds, we have to fly to Chicago each time where the drug is administered by a lumbar 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 Go Fund Me page aiming to raise £117,000 to cover Marian’s medical expenses.
You can donate to the family on their
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