Touching – Toddler with Alzheimer’s forgets first words Touching – Toddler with Alzheimer’s forgets first words
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... Touching – Toddler with Alzheimer’s forgets first words

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 toddler’s 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.


Baby Marian is battling a fatal condition that causes numerous health problems including dementia. Photo: Caters

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.

“Receiving the news that Marian has NPC was devastating and we want to do everything we can to help her survive it,” said Sara.

“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 reveals her daughter remembers her parents and doesn’t have any advanced symptoms just yet. She is forgetful though, and the couple have noticed her losing the ability to say certain words.


Marian’s family became concerned when they noticed their daughter’s development was regressing. Photo: Caters

“When she was around nine months old she learnt how to say ‘hi’ and ‘bye’ but suddenly one day stopped saying them regularly,” explains Sara.

“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, and managed to take her first steps after her last round of treatment – to her parent’s joy.

“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,” said Sara.

Marian’s condition, Niemann-Pick type C, affects less than 3,000 children worldwide and sufferers rarely live past the age of 10.


Sufferers from Marian’s condition rarely make it into their teens. Photo: Caters

“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,” added Sara.

“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), which she’s had five rounds of since February.

“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,” said Sara.


The family have set up a fundraising page to help their daughter get the help she needs. Photo: gofundme.com

“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 GoFundMe to cover medical expenses and out of their $198,000 goal, more than $98,000 has been raised.

“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,” said Sara.

“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.”

 

Source: Yahoo Lifestyle

Nkasiobi Chukwu

  • Shellena

    2017-06-21 #1 Author

    I can only imagine what the parent are going through. That is very heartbreaking but long as we know their is a God everything will be jusy fine.

    Reply

  • Tammy Myrick

    2017-06-21 #2 Author

    Definitely in my prayers!

    Reply

  • Jasmine

    2017-06-21 #3 Author

    I think this is very sad and wish they were able to find a cure. Stay strong baby!

    Reply

  • Mykeisha Gibson

    2017-06-21 #4 Author

    I will be praying for the family 🙏🏽

    Reply

  • Balogun Samson oluwasegun

    2017-06-21 #5 Author

    This is so heart touching, I believe there can be a miracle though. With God all things are possible

    Reply

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