Lachlan Peck, 6, is the only child in the world with his variant of DiGeorge. It affects his hearing, organs and ability to swallow. Photo / Supplied
Lachlan Peck, 6, is the only child in the world with his variant of DiGeorge. It affects his hearing, organs and ability to swallow. Photo / Supplied
A lifeline for thousands of Kiwi families fighting crippling rare disorders fears closure due to financial woes.
Two years after its annual government grant was halved - to $60,000 - the head of Rare Disorders New Zealand says they are struggling to make ends meet.
"Closure is a realfear, we have no guarantee of surviving these next few years - it's not a very confident picture," said chief executive Lisa Foster.
"If we don't survive as an organisation what is that saying to all those families? That you don't matter?"
Health Minister Andrew Little told the Herald he was "sympathetic" to these families and remained committed to ensuring they received a good level of support.
Little could not say why the organisation's funding was cut or make any specific promises to ensure its survival.
"I am willing to engage with the community to learn more about the challenges they face and I look forward to doing so in due course," he said.
Health Minister Andrew Little will "engage" with the community. Photo / Supplied
Ashburton mum-of-four Alanna Peck, 34, is among thousands of New Zealanders, including patients' family members, who rely on RDNZ for support.
Her 6-year-old son Lachlan has a rare condition known as DiGeorge or 22q11.2 deletion syndrome. It's responsible for poor development of bodily systems including hearing, speech, eating and the heart.
Found in about one in 4000 live births, no two babies with the disorder face the exact same challenges, making it even tougher to detect.
To doctors, Lachlan - described by his mum as "a cheeky dude" - appeared healthy but Peck knew something was wrong.
"I've been called paranoid, a hypochondriac and all sorts of names from medical professionals, it felt really nasty."
"He was my third baby. He was born with a lot of mucus in his mouth but the midwife wouldn't clear that, and when he was 18 hours old he had a choking episode and milk started coming out his nose when he was feeding. I knew something was wrong."
It wasn't until her precious boy was 15 months old that she and husband Russell discovered he was completely deaf. They realised after noticing Lachlan responding to the sound of his builder dad's nailgun.
"Cheeky dude" Lachlan won best dressed junior at his school disco. Photo / Supplied
"The nurse that was doing the hearing test said, 'Something's not quite right. Keep pushing and don't stop until you get answers'."
Those answers came, albeit slowly. So too the realisation that Lachlan was paralysed on one side, which was displacing organs.
Although he had multiple surgeries, it wasn't until he was 3-and-a-half that he was officially diagnosed with DiGeorge. And then his parents faced even more battles - for treatment and support.
Amid the fear and uncertainty, connecting with RDNZ gave Peck hope.
The charity linked her with other families going through similar experiences; conferences where overseas medical professionals spoke about the condition; and advocacy - to know what help was available and how to get it.
"Being connected with other people going through a similar experience means everything," says Peck.
Lachlan with his siblings Charlotte, Oliver and Chloe (sitting down). Photo / Supplied
Foster, who has four staff and one volunteer, said the lower grant has meant a bigger focus on fundraising and less time for families.
"There's so much more potential [to help] but we are struggling to capitalise on opportunity."
RDNZ was set up 20 years ago by patient advocate John Forman. The charity has been fighting for clearer medical procedures around the diagnosis and treatment of rare disorders but the Ministry of Health would not budge.
A Ministry of Health spokeswoman said the agency continued to meet regularly and work closely with RDNZ.
"The ministry is also committed to facilitating and supporting conversations with other organisations and agencies, to help achieve RDNZ's goal of improving the overall support available for people with rare disorders, and the people who care for them."
Despite financial challenges, Foster remained hopeful the Government would see the importance of the charity and commit to ensuring its survival - and doing more to help struggling families.
About rare disorders:
• There are more than 6000 distinct rare disorders - each affects fewer than 1 in 2000 people.
• In New Zealand, rare disorders affect more than 300,000 - plus hundreds and thousands family members caring for them.
• Almost 72 per cent of rare disorders are genetic.
The impact of living with a rare disorder in NZ:
A 2018 survey of 300 New Zealanders living with a rare disorder showed 38 per cent had needed an emergency hospital visit in the previous six months. It also showed:
• About one in three had lost their job.
• Nearly 35 per cent often felt unhappy and depressed.
• About 40 per cent said they could not afford recommended treatment, such as rehab equipment or home care.
• More than 60 per cent felt communication between medical services was poor.
