Dementia

Updated 26 September 2017

2-year-old girl with Alzheimer's may soon forget her parents

Marian McGlocklin's parents noticed something wasn't right with their little girl, but they never suspected it could be a form of Alzheimer's.

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Marian McGlocklin looks like any two-year-old little girl. She’s as bubbly and curious as any toddler, but sadly she’s also living with a rare disease.

Marian suffers from Niemann-Pick disease type C (NPC1), which is also known as one of the types of childhood Alzheimer's.

Her parents, Paul and Sara, told the Mirror they first noticed she wasn't reaching some of her milestones and that she'd forgotten words she had already learned.

At first, doctors told the couple there was nothing wrong with their daughter, but they persisted, and after seven months they finally discovered what the problem was.

While the toddler's symptoms aren't too severe right now, she is displaying specifically forgetfulness. There is also a strong chance she won't live to see her teen years because of severe brain degeneration.

Baby steps

Marian's parents were told their daughter would never walk – she might try, but would soon forget what she had learned – but the toddler proved them wrong and recently took her first few steps.

Her parents were overjoyed, but continue to live in fear of their daughter's deteriorating mind; she remembers who they are, but for how long?

Hope for Marian

Marian is part of a clinical trial where she receives an experimental drug every week via lumbar puncture. The couple have detailed that this is helping their daughter by alleviating some of the symptoms and slowing the progression of the disease.

Marian's parents have started a Facebook page where they describe in detail how well she's doing – that she can walk and talk, and how she's reaching new milestones. They however state clearly that the drug is not a cure and that it's only buying them valuable time.

Paul and Sara are dedicated to raising awareness of the disease their daughter is plagued with in order to raise funds for researchers to find a cure.

The National Organisation for Rare Disorders (NORD) states that while NPC is broadly known to cause memory loss in children, it is still regarded as a changing disease, meaning that some children may not display every single symptom, and that each case is unique and should be treated as such.

The disease is progressive, which means it will worsen as time goes by, and one of the main reasons the disease is so harmful is that the body is unable to transport fatty substances and cholestorol into cells.

This results in an abnormal amount of fatty substances accumulating in various tissues in the body, including the brain, causing tremendous damage over time.

Onset of the disease could take place before birth, at birth or later in life. In some cases, it may go undiagnosed for a long time, and people may only discover they have the illness in their adult years.

Other symptoms include the following, all of which could result from brain tissue degeneration:

  • Hypotonia, also known as floppy baby syndrome – limited muscle tone
  • Vertical supranuclear gaze palsy (VSGP) – difficulty or inability to look in a certain direction
  • Dysarthria – slurred or slow speech
  • Dysphagia – difficulty swallowing

Physicians look at a number of symptoms and run numerous tests, which could include genetic screening, to establish if a patient has the disease.

Because there are so many variables to consider, treatment is case-specific and differs from patient to patient, but treatment involves collaboration between specialised healthcare professionals like neurologists, paediatricians, pulmonologists and psychologists to construct a unique plan for a patient and their family.

Image credit: Facebook