A Tauranga mum who has never given up fighting for her two children and others with rare diseases has been appointed a Member of the New Zealand Order of Merit.
Jenny Noble, who has been a field officer and administrator for Lysosomal Diseases New Zealand since 1999, started her advocacy work in 1989 when her son Hayden and daughter Sarah were diagnosed with mucolipidosis type III, a condition which prevents cells from performing their natural recycling function.
The rare condition, which is one of many lysosomal diseases, is inherited and causes progressive physical or mental deterioration as the cells break down.
"John Foreman [the chairman of LDNZ] contacted me out of the blue one day," she said of her start with Lysosomal Diseases New Zealand.
"We got to talking and we decided that we should put an organisation together ... at the time when our kids were diagnosed, there was very little information - no support."
Lysosomal Diseases New Zealand provides support, clinical care, and research into the group of disorders which affect an estimated one in 5000.
"[We] didn't want families behind us to go what we went through," Noble said.
Her advocating work didn't stop there, however.
Noble also helped to establish the New Zealand Organisation for Rare Disorders almost 20 years ago and has served on the board of the International Society for Mannosidosis and Related Diseases since 2004.
The society, which is based in the United States, aims to provide a global network of support and information for those living with lysosomal conditions.
It was through her advocacy with these organisations that she managed to get her children access to a drug to greatly improve their quality of life.
One of the really severe aspects of mucolipidosis is chronic pain, which is usually untreatable, Noble said.
After hearing a doctor mention a drug that could be used to help her children, she worked to get it for them.
"I started a round-table discussion about the possibility of pamidronate being an option for children with mucolipidosis."
During a check-up in Sydney, Sarah's bones were found to be in the same condition as a 90-year-old's.
So Noble and her family came home, convinced Pharmac to fund the drug, and started a trial.
In 2002, Noble co-authored an article in a medical journal about the "miraculous" effect the trial had on her children's health.
But her work is far from over.
"We've only just recently set up a research network for mucolipidosis ... bringing together scientists from around the world to figure out 'where to' with this condition," she said.
"How do we get these people to collaborate so we have science that's tangible?"
Despite all the work she has done, though, Noble said she was "quite surprised" when she first got the letter telling her of her nomination for the Order of Merit.
"I said to my husband - 'Am I reading this correctly?'", she said.
"I'm humbled that my name has been put forward."
About Lysosomal Diseases
• A group of more than 50 genetically inherited disorders characterised by a deficiency of one or more specific lysosomal enzymes.
• Lysosomes are each cell's "recycling centre".
Source: Lysosomal Diseases New Zealand.