By HARWARD, Esther
WHEN TWO of Tauranga mum Jenny Noble’s three children were diagnosed with a crippling bone disease, they told her they were in so much pain they wanted to die.
No medical remedy they tried worked and doctors told her and her husband Paul that nothing could be done to ease their children’s suffering.
That wasn’t good enough for the former secretary, who, despite having no medical knowledge, spent the next 20 years becoming an expert in the disease, known as ML3 (mucolipidosis type 3), an enzyme processing disorder which left the children with bone deformities and unable to walk.
Now her astounding work has been rewarded with a $40,000 AMP scholarship which will enable her to include New Zealanders in an international study of such diseases, and to fund the development of international protocols for using an osteoporosis drug, pamidronate, to treat ML3.
When the children were diagnosed in 1987, she and Paul got a second mortgage on their home and travelled to conferences all over the world to learn about the disease. “We didn’t have a choice, we had to learn for the benefit of Hayden and Sarah. At diagnosis we went into this great black void and I didn’t know how to get out. We searched for ways to manage the disease and ensure the kids were still with us today.”
ML3 is a glycoprotein disorder, part of a larger group of conditions known as lysosomal diseases. They are caused by the body’s failure to break down large molecules such as proteins into smaller components that cells can re-use, resulting in cells dying or becoming dysfunctional.
Noble has addressed medical conferences in the US, Australia and Europe; set up Lysosomal Diseases New Zealand; and fielded hundreds of emails from families worldwide.
In 2000 Jenny Noble took Hayden, now 24, and Sarah, 23, to Australia to try the pamidronate that Sydney University professor David Sillence was trialling on people with such diseases. Two weeks later, their pain reduced dramatically. After three months Sarah got out of her wheelchair with the help of a walking frame. Hayden is still in a wheelchair but he has no more pain.
“We were guinea pigs,” Sarah says. She describes getting rid of the pain as “unbelievable”. The success of the trial, and Noble’s lobbying in New Zealand, led to public funding for use of pamidronate to treat lysosomal diseases. There are 45 forms of the disease, which affects one in 5000 live births.
Noble’s organisation supports 96 Kiwi families. The diseases are inherited and lead to progressive physical and, in some cases, mental deterioration.
“Lysosomal diseases are considered the forgotten diseases because they’re rare, they’re complex, they’re difficult to understand, they’re hard to research because numbers are tiny.”
Noble’s goal is to see research done into the rarest lysosomal diseases, and ultimately to help eradicate them. She’s motivated by stories of other families who are suffering.
“That’s my passion and that’s my drive – it’s seeing the devastation and the heartache.”
——————–
(c) 2008 Sunday Star – Times; Wellington, New Zealand. Provided by ProQuest LLC. All rights Reserved.
Comments