The family of a young girl from Virgina who suffers from ‘childhood dementia’ has watched as her body slowly shuts down from a rare, terminal neurological illness.
Eight-year-old Abby Alvey was diagnosed with Niemann Pick Type C – an ultra-rare genetic disease – when she was four after an extensive diagnostic journey.
The rare disease causes physical and neurological symptoms, including dementia at a young age.
Abby’s father Garland Alvey told WTVR the disease is ‘just the most disgusting, horrible thing you could ever imagine.’
He said when she was just a couple 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 ultra-rare genetic disease- when she was four years old. She started to show symptoms when she was just a couple months old
Abby pictured with her older sister and her father Garland who have both supported her throughout her journey
Abby goes through extensive testing and screenings for the rare disease and is set to start biweekly spinal infusions to ease her symptoms
At the age of three Abby started to lose her balance and her speech changed.
The life expectancy for people with Niemann Pick Type C can vary, while some only make it to childhood and other make it to adulthood.
It is unclear how much life Abby has left to live, but her dad said that she might not be able to make it to high school.
‘No matter what we do, we can’t stop that progression. You go through a very dark phase of ‘how are we going to handle this’,’ Garland said.
With Abby’s fait hanging over the family, they have decided to try and live every day to the fullest and cherish every moment they have with her.
She goes to school, participates in dance classes, enjoys arts and crafts and loves to sing along to Disney songs.
Her parents created a superhero inspired after their brave daughter named ‘Abby Strong’ as a way to remind her of her and others strength dealing with the disease.
Alvey said: ‘She’s Abby Strong, and she is fighting for all of her NPC buddies. Go and do as much as we possibly can and live a lifetime within a short amount of time.’
A Facebook page has also been made in honor of Abby and her journey and is called AbbyStrong Fights NPC.
Her parents created a superhero inspired after their brave daughter named ‘Abby Strong’ as a way to remind her of her and others strength dealing with the disease
Garland said that when Abby was just a few months old, they noticed that she would bruise very easily, and her liver and spleen were swelling
Her father has also set up a gofundme page for Abby which is meant for others to donate toward the costs of her frequent medical treatments, devices and therapies to help her ‘live a longer fuller life’.
The donation page revealed that Abby has multiple therapies throughout the week, and she will soon start biweekly spinal infusions.
The infusions will administer a drug into her body that will help with the buildup of ‘toxic waste from her cells,’ dad said on the page.
Niemann Pick Type C or NPC is caused by an ability of the body to transport cholesterol and other fatty substances like lipids inside of cells that the body can’t properly break down.
The excessive fatty cells then expand on to other parts of the body’s tissue, including brain tissue, which leads patients to suffer from dementia.
These dementia symptoms usually consist of poor judgement skills and issues with short and long-term memory and learning.
Other symptoms that people with NPS experience are an enlarged liver and spleen, difficulty coordinating movement, abnormal eye movements, severe liver disease and difficulty with speech.
Though symptoms of NPC tend to occur during 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 has hopes of taking her to Disney World soon as she loves to sing along to songs and express herself.
Abby goes to school, participates in dance lessons, enjoys arts and crafts and loves to sing along to Disney songs
Her father has also set up a gofundme page for Abby which is meant for others to donate toward the costs of her frequent medical treatments, devices and therapies to help her ‘live a longer fuller life’
They also hope that her story helps encourage others to peruse newborn generic testing and screenings for rare diseases.
Many people with rare diseases go through strenuous amounts of testing and often get misdiagnosed before they reach their diagnosis.
As of 2023, there are an estimated 7,000 known rare diseases that affect more than 300 people worldwide, according to Sanofi. Rare Disease Day is celebrated annually on the last day of February.
‘She deserves a chance just like everyone else to do the things we all do and sometimes take for granted. We are not going to just hide and give up,’ Alvey said.