Marian McGlocklin, a 2-year-old from California has been diagnosed with a disease called Niemann Pick Type C or NPC, which exhibits symptoms that are similar to that of Alzheimer’s disease, albeit, it happens to children.
When Marian was 9 months old, Marian started to say her first words. However, her parents were shocked when it seemed that their bel0ved daughter suddenly forgot how to say those words.
Her mother shares, ” 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 had recently started taking her first steps, but due to her condition, she might soon be unable to walk. Thankfully, she is now a part of clinical trials for a new form of treatment for NPC, which her parents hope would help her lead a normal life and overcome her disease.
What you need to know about ‘childhood Alzheimer’s’
Niemann Pick Type C (NPC), sometimes called “childhood Alzheimer’s,’ is a disease similar to, but it isn’t related to Alzheimer’s disease. The only thing that NPC has in common with Alzheimer’s is that it causes dementia.
Most medical professionals actually don’t like calling it ‘childhood Alzheimer’s’ since the two diseases aren’t related.
NPC happens in every one out of 100,000 children. It’s mainly caused by a mutation of the NPC1 gene, which both parents can have even if they don’t have the disease.
If NPC develops in children before birth or while they’re very little, it can have severe and sometimes lethal effects such as liver disease. However, with proper treatment, it can be managed and the patient can have a normal life.
For the most part, NPC usually develops in childhood or adolescence, and causes dementia in all patients. Ataxia, or loss of muscle coordination, can also happen, and it can affect a child’s speech, swallowing, and breathing.
NPC can also rarely happen in adults and older people, so it isn’t necessarily limited to children.
Should I be worried about my child having NPC?
For the most part, parents shouldn’t be worried that their child has NPC, especially if it seems that their child is developing normally and reaching their development milestones at the right age.
The symptoms that parents need to watch out for would be problems with movement and coordination in children. A sudden decline in speech can also be symptom, as well as forgetfulness that’s out of the ordinary.
Blood tests can also help confirm if a child has NPC, and this can greatly help with treatment since the sooner it can be detected, the greater the chances that it can be managed through treatment.
Sadly, even with the current treatment available, people who suffer from NPC usually die within 10-15 years of acquiring the disease. And the younger the child is when it starts to develop, the more aggressive the condition becomes. However, researchers and doctors are working hard in order to find better forms of treatment such as the one that Marian’s undergoing, that will allow children with NPC to live a normal life.
Source: blogs.webmd.com, thesun.co.uk
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