Niemann-Pick type C, or NPC Disease affects only one in 95 000 people - it is as rare as it is devastating.
And sadly it is affecting two families in Benalla.
When Mandy Whitechurch's youngest son Timmy was 17 he was struggling with speech.
“Our youngest developed a backward gate and was having trouble with speech, but his dad had a stammer and we didn't expect it to be too serious,” Mandy said.
“He was initially misdiagnosed with ADHD, and for a time they thought it might be some kind of Parkinson's.
“But NPCD a difficult disease to diagnose, and it took a couple of years for them to work out what was wrong.”
Sadly NPCD is a disease with no known cure and is listed as terminal.
“Eventually Mandy took Timmy to a neurologist in Wodonga who found something and advised us to make an appointment at the Children's Hospital.
“Finally they called us in and said they thought it might be NPCD.
“I had thought it would just be a tablet to fix things, but I knew it was bad when I saw they had a counsellor there.
“It's so difficult to cope with. As a parent how do you tell your son they have a terminal disease?”
Sadly this diagnosis was only the tip of the iceberg.
“The doctor explained that even though this is a rare disease, if you have one child diagnosed, the odds of a sibling having the NPCD increases to one in four,” Mandy said.
One of the tests that doctors gave Timmy was to see if his eyes follow a finger moving up and down.
A person who's eyes cannot follow a finger moving up and down are more likely to have NPCD.
“When I came home I showed how they did the test on my other son Matthew.
“When I said follow my finger and he did the same thing Timmy had, and his eyes did not follow it.”
The family then had the heartbreaking wait to see if Matthew was also living with NPCD.
Shortly after he was also diagnosed.
“So they diagnosed Matt in in 2008 and it explained a lot of things,” Mandy said.
“Matt had his driving license and I remember I used to keep saying to him to keep his eyes on the road.
“Which in hindsight was obviously a symptom of NPCD.
“So Matt ended up losing his driving license and his boat license, and he eventually had to give up work.
“I think Matt found it a bit harder as he had to give up those things, as Timmy never experienced them in the first place.”
In Niemann-Pick type C Disease the brain and other organs are affected, leading to progressive intellectual decline, loss of motor skills, seizures and dementia.
Speech can become slurred and swallowing problems may develop.
The rate at which the disease progresses varies greatly between patients; children who develop neurological symptoms in early childhood are thought to have a more aggressive form of the disease, others may remain symptom free for many years.
Matthew and Timmy have been living with the disease for more than 12 years and continue to live life to the fullest - as best as they can given the circumstances.
One of the biggest issues Mandy faced as a parent after the diagnosis was a lack of support in Australia.
Mandy has since set up the Australian NPC Disease Foundation, which has been in operation since 2009.
“It takes along time to get your head around a diagnosis like this. You go into shock and disbelief and total depression,” she said.
“I suppose after my sons were diagnosed I felt I couldn't give up on them.
“I wasn't going to sit by and do nothing.
“All I was told was to to go home and make memories.
“I was told that there was no hope. They gave us no hope.
“There was no information, no brochure explaining the disease - there was nothing.
“So what we've done, as the Australian foundation, is to make sure people have somewhere to turn.
“And people are getting a diagnosed more regularly now, it has definitely become more prevalent in the past 12 years.
“We now host an annual family conference and invite all 28 people in Australia who are living with NPCD, and their families.
“Our next one is on October 10 and will be held at Flemington Racecourse as we have outgrown our previous venue.”
Mandy said she was always saddened to learn of another diagnosis in Australia, but was heartbroken to hear another Benalla Family were dealing with a positive diagnosis.
“Little Noah is only three years old and a beautiful little boy,” Mandy said.
“He's the only child of Andrew and Deanne Carpino.”
Deanne's uncle is well-known local John Martinello and Mandy said she was devastated to find out a second family in the small rural city of Benalla was dealing with such a tragic diagnosis.
“I actually knew of the family, but since the diagnosis I’ve become very close to them,” she said.
“They came across the foundation after the diagnosis and have since become heavily involved.
“Deanne is now our vice-president and both her and Andrew have been heavily involved in the conferences.”
The annual conference is designed to bring families together, provide a support network, it also discusses new research into NPCD.
● For more information on NPCD and the conference click here