Virginia girl, 8, is suffering ‘childhood dementia’ as her body slowly shuts down from rare terminal neurological illness that’s been crippling her body since she was just three months old

By James On Dec 4, 2023

The family of a young Virgina girl suffering from 'infantile dementia' has watched her body slowly shut down from the rare, terminal neurological disease.

Abby Alvey, eight, was diagnosed with Niemann Pick Type C – an extremely rare genetic disease – at the age of four after an extensive diagnostic process.

The rare disease causes physical and neurological symptoms, including dementia at a young age.

Abby's father Garland Alvey told WTVR that the disease is “just the most disgusting, horrible thing you could ever imagine.”

He said that when she was just a few months old, she began to bruise easily, and her liver and spleen were swelling, telltale signs of the incurable disease.

Abby Alvey was diagnosed with Niemann Pick Type C, an extremely rare genetic disease, at the age of four. She started showing symptoms when she was just a few months old

Abby pictured with her older sister and her father Garland, both of whom have supported her throughout her journey

Abby is undergoing extensive testing and screenings for the rare disease and will begin biweekly back infusions to alleviate her symptoms.

At age three, Abby began to lose her balance and her speech changed.

Life expectancy for people with Niemann Pick Type C can vary, with some not living until childhood and others reaching adulthood.

It's unclear how much life Abby has left to live, but her father said she might not be able to graduate high school.

'No matter what we do, we cannot stop that progress. You go through a very dark phase of 'how are we going to handle this?'” Garland said.

With Abby's confidence hanging over the family, they have decided to try to live every day to the fullest and cherish every moment they have with her.

She goes to school, takes dance classes, enjoys crafts and sings along to Disney songs.

Her parents created a superhero inspired by their brave daughter named 'Abby Strong', as a way to remind her of her and others' strength in dealing with the disease.

Alvey said, “She's Abby Strong and she fights for all her NPC friends. Do as much as you can and live a whole life in a short time.'

A Facebook page has also been created in honor of Abby and her journey and is called AbbyStrong fights NPC.

Her parents created a superhero inspired by their brave daughter named 'Abby Strong' as a way to remind her of her and others' strength in dealing with the disease

Garland said that when Abby was just a few months old, they noticed that she bruised very easily and that her liver and spleen were swelling.

Her father also has one gofundme page for Abby that is intended for others to donate towards the cost of her frequent medical treatments, devices and therapies to help her 'live a longer, fuller life'.

The donation page revealed that Abby is receiving multiple therapies throughout the week, and will soon begin biweekly back infusions.

The IVs will deliver a drug into her body that will help with the build-up of “toxic waste from her cells,” Dad said on the page.

Niemann Pick Type C or NPC is caused by the body's ability to transport cholesterol and other fatty substances such as lipids into cells that the body cannot properly break down.

The excess fat cells then spread to other parts of the body's tissue, including brain tissue, causing patients to suffer from dementia.

These symptoms of dementia usually include poor judgment skills and problems with short- and long-term memory and learning.

Other symptoms that people with NPS experience include an enlarged liver and spleen, difficulty coordinating movements, abnormal eye movements, severe liver disease, and speech problems.

Although symptoms of NPC often appear in childhood, they can truly begin at any age, and approximately 500 cases of the rare metabolic disease have been diagnosed worldwide.

Abby's family also hopes to take her to Disney World soon because she loves to sing along to songs and express herself.

Abby goes to school, takes dance classes, enjoys crafts and sings along to Disney songs

Her father has also set up a gofundme page for Abby, intended for others to donate towards the cost of her frequent medical treatments, devices and therapies to help her “live a longer, fuller life.”

They also hope her story will encourage others to study generic tests and screenings for rare diseases for newborns.

Many people with rare diseases undergo rigorous testing and are often misdiagnosed before reaching the diagnosis.

By 2023, there will be an estimated 7,000 known rare diseases affecting more than 300 people worldwide. Sanofi. Rare Disease Day is celebrated annually on the last day of February.

“Like everyone else, she deserves a chance to do the things we all do and sometimes take for granted. We're not just going to hide and give up,” Alvey said.

What is Niemann-Pick disease type C?

Niemann-Pick disease type C, also known as NPC, is an incredibly rare, hereditary disease that causes damage to the nervous system over time.

It is estimated that one in 120,000 people is born with the condition.

The life expectancy of people with NPC varies. Some people die in childhood, while others survive into adulthood.

Children who show symptoms after starting school may live into their mid-teens, with a few surviving into their twenties.

A 2019 study found that the average life expectancy of patients was 13 years.

NPC is caused by the body's ability to transport cholesterol and other fatty substances (such as lipids) into the cells.

Because the body cannot process and properly break down these fats, they accumulate in various tissues of the body, including brain tissue.

Symptoms of NPC usually occur in childhood, but can begin at any age. These include: enlarged liver and spleen, difficulty coordinating movements, abnormal eye movements, severe liver disease, and speech problems.

People with NPC are more likely to develop symptoms of dementia, such as poor judgment, problems with short-term memory and learning.

Currently, there is no cure for NPC. There is a drug called Miglustat that keeps the body from producing excess lipids, which helps slow the progression of the disease.

NPC is caused by a mutation in the NPC1 or NPC2 genes, which provide instructions for the production of special proteins in lysosomes responsible for the movement of cholesterol and other fats.

Lysosomes are sacs filled with enzymes that can break down or digest materials in cells, such as cholesterol and lipids.

The condition is inherited when a child receives a defective copy of the NPC1 or NPC2 gene from each of his parents.

NPC is one of about 50 diseases classified as lysosomal storage disorders (LSD), in which a genetic variation disrupts the normal activity of lysosomes in human cells.