- Brynne, 8, and Kendall, 6, were diagnosed with childhood Alzheimer’s in April
- The terminal brain disease is officially called Niemann-Pick disease type C
- The rare condition causes lung damage, dementia and difficulty speaking
- The Wrightwood, CA. family is raising funds for a potentially life-saving trial
- Sufferers rarely live past the age of 10 and are extremely lucky to make it to 20
For the Moore-LaFever family, they never imagined the life-altering symptoms of Alzheimer’s would turn up in their two young daughters.
Brynne was a perfectly normal little girl until she began to fall behind her peers in pre-school and began to display signs of development problems at three years old.
Last month, Julie Moore-LaFever and her husband Gary had their fears confirmed that something was wrong when Brynne, eight, was diagnosed with Niemann-Pick disease type C – also known as ‘childhood Alzheimer’s’.
Their worlds were further shook when the neurologist revealed her younger sister Kendall, six, had the same fatal brain disorder.
The rare condition causes enlarged organs, lung damage, muscle stiffness, seizures, dementia and difficulty speaking.
Now, the family from Wrightwood, California, is racing against the clock to raise funds to get their daughters into a clinical trial that has shown success in slowing down and stabilizing the disease.
Despite noticing her declining health years ago, Brynne’s parents weren’t able to have a pediatric neurologist look at her until December 2016.
After five long days of testing, they still had no answer to what was happening to their child.
But when the expert examined Kendall who was displaying similar early symptoms that Brynne had, he suspected the fatal disease.
Moore-aFever said she will never forget the doctor telling them ‘this changes everything’, she wrote on the GoFundMe page.
She said: ‘Both Brynne and Kendall were born healthy and thriving, reaching their milestones on time.
‘Now with our girls having this fatal diagnosis our world has truly been shattered and we need help to pick up the pieces to be able to put life together and focus on giving the girls treatment.’
NPC affects just 500 children worldwide. In most cases, symptoms appear around the age of four. Sufferers rarely live past the age of 10 and are extremely lucky to make it to 20. Pictured: The family before the girls were diagnosed
Brynne, left, and Kendall, six, have hope as their parents work to get them into a clinical trial treatment that may slow or stabilize the disease from progressing
NPC affects just 500 children worldwide. In most cases, symptoms appear around the age of four. Sufferers rarely live past the age of 10 and are extremely lucky to make it to 20.
HOW TO SPOT NPC
Niemann-Pick Type C (NPC) is a disease where patients are unable to metabolize cholesterol and other lipids properly within their cells.
Excessive amounts of cholesterol then accumulate within the liver and spleen, and excessive amounts of other lipids accumulate in the brain.
Signs and symptoms:
- Vertical gaze palsy (the inability to move the eyes up and down)
- Enlarged liver
- Enlarged spleen
- Jaundice in young children
In most cases, neurological symptoms begin appearing between the ages of four and 10.
Generally, the later that neurological symptoms begin, the slower the progression of the disease.
NPC causes enlarged organs, lung damage, and slow and steady neurological deterioration. Patients are eventually unable to walk, talk or even breathe.
There are an estimated 500 cases diagnosed worldwide.
Doctors say there may be more, but that people confuse the disease with a learning disability or clumsiness.
There is currently no cure for NPC. Half of children die by age 10 and the majority will die before age 20.
A late onset of symptoms can lead to a longer life span, but it is extremely rare for any person with NPC to reach age 40.
Source: National Niemann-Pick Disease Foundation
Moore-LaFever said to KTLA: ‘It’s hard to soak in the moments when you don’t know how many more you have.
‘We have faith, and we know that miracles can happen. We have hope with these medicines but without treatment, there is no hope.’
NPC is a rare, progressive genetic disorder, which is characterized by an inability of the body to metabolize cholesterol and other fatty substances (lipids) inside of cells.
This causes enlarged organs, lung damage, and slow and steady neurological deterioration, in the form of dementia.
The muscles will begin to stiffen to the point where patients are unable to walk.
Speech becomes more difficult until sufferers are unable to talk, or even breathe, before eventually succumbing to the disease.
Only 500 children in the world have been diagnosed.
The clinical trial offers hope for patients with NPC and treatments have shown some success in slowing down the condition.
The treatment is a medicine called Cyclodextrin (or VTS 270) which has been tested in lab trials on mice, and it extended sufferers’ lives five-fold.
The drug has now reached Phase II/III trials on humans.
VTS 270 is a sugar compound found in fat-free dressings and margarine.
It appears to stabilize children in decline and substantially halt NPC’s progression, something which seemed scientifically impossible only a few years ago.
Currently, VTS 270 can only be administered via spinal tap under anesthesia in a hospital every two weeks, indefinitely, and the treatment is only available in Chicago, Illinois.