Living in the moment

AXEDALE father Mick Lloyd faces every day with the knowledge he will most likely outlive his sons.

Reporter HANNAH KNIGHT writes about the horrible disease that is Niemann Pick

Mick, 50, is watching Niemann Pick Type C disease suck the life out of his sons Matthew and Timothy.

The disease is incredibly rare - there are about 10 to 15 people alive in Australia with the condition and about 500 worldwide.

NPC causes the build up of protein on the brain and comes with a mixed bag of symptoms including balance issues, lung problems, dystonia, difficulty swallowing, confusion and sometimes dementia, short-term memory loss and schizophrenia.

There is no cure and life expectancy is 10 years from diagnosis.

Mick's youngest son Timothy was diagnosed when he was 17.

Mick said the diagnosis hit him and the boys' mother Mandy "like a sledge hammer".

"It's been six or seven years now so we've come to terms with the knowledge that we will outlive the boys," he said.

"We want to make the boys' lives as comfortable as possible and give them as many opportunities as possible.

"I've had the opportunity to take the boys over to Hawaii and New Zealand just so they could see a bit of life.

"I've also taken them to Sydney and Mandy's taken them on a cruise.

"It's trying to fit their bucket list in to their short life.

It's trying to fit their bucket list in to their short life. - Mick Lloyd

"It's really a matter of doing all of this without pre-empting anything because they say the average age life expectancy is between 17 or 25 but sometimes this disease can take them into their mid-30s or mid-40s.

"But it just means the deterioration just drags on and it prolongs it a bit further, making it uncomfortable for them."

Mick and Mandy have been separated for some time but stay in regular contact because of their sons.

Mandy lives in Benalla with Matthew and Timothy but Mick gives her a well-earned break when he catches up with his children.

"I know it is very taxing on Mandy," he said.

"I do see the boys on a regular basis - I take them away a lot, once every six weeks, and we do something that gives Mandy a break.

"As for the impact on our lives, it is hard to come to terms with.

"It's hard to explain to someone who doesn't know this disease."

Mick said at first glance people might not notice anything different about his sons.

"But the moment they speak or start moving you think, 'My God there's something wrong here'," he said.

"Then it takes a couple or hours to explain, or a week to be with the boys, and you see exactly what they're like.

"Even though they're adults they have special needs and require 24-hour care.

"You have to co-ordinate their days, get food ready, organise their tablets and make sure there's no tripping hazards for Tim because at the moment he's the one it's affecting physically.

"He shuffles his feet along because he can't lift his feet.

"So not only do you have to plan your day, you have to plan his day ahead of you.

"It adds a bit more to the daily routine."

Matthew and Timothy's mother Mandy described NPC as a "horrible, horrible disease".

"It's a neurological progressive terminal disease," she said.

"There's no cure and the only treatment that we have at the moment is a drug that we're on compassionate use for.

"The symptoms are treated and there's no actual treatment for NPC disease.

"There is research being done in Melbourne with human cells into mice and they're working on a special compound to try and treat these mice with, hopefully, a breakthrough in alleviating or treating the symptoms of NPC and prolonging their life."

Mandy said funding for the research would run out in June.

"If we haven't got certainty of raising $120,000 in 12 months the scientist will go, the mice will die and that research is lost," she said.

"We're really dependent on time at the moment."

Mandy said Matthew was still able to work three days a week but the disease was more progressed in Timothy.

"There's things like the social aspect of the disease - people won't talk to them because their speech is broken," she said.

"What I can tell you in a minute it would take Timothy five minutes to say and people get impatient and try to talk over him or put the words in his mouth.

"He has absent seizures where the lights are on but no-one's home and they're getting more frequent.

"Fatigue is big and they both get very, very tired.

"Timothy has a specialised spoon because he has involuntary movement and huge tremors so to hold his spoon and put his food to his mouth and swallow is a huge effort for him.

"Then we have got to watch him to make sure he doesn't choke.

"You'll see him with sweat beads just from concentrating.

"Everything we take for granted takes so much effort and energy from these guys."

Mandy and her sons recently lost a friend they met through Australian NPC Disease Foundation.

"She was 39 and went to New Zealand in November with her family," she said.

"She wasn't really well but she was still walking and able to enjoy it.

"But she died on January 14 - it all happened quickly, it was like the disease decided it was turning on.

"It's just a horrible disease and no-one knows about it."

Mick and Mandy shared their story with the Bendigo Advertiser to raise awareness about the upcoming Rare Disease Day.

The event is marked on February 28 and raises awareness about rare diseases and the impacts they have on those affected and their families.

Mandy hopes people will take the time to learn more about NPC disease by visiting the foundation's website at http://npcd.org.au/

​Mick hopes one day a cure is found and other families won't have to go through the suffering his family is enduring.

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