- Charlie's story
"I would definitely encourage every parent to ensure their newborn baby has a heel prick. Once you know your child has a condition like Cystic Fibrosis, there are many things you can do to help him or her have a really good quality of life."
Newborn metabolic screening - carried out using a heel prick test - enables rare, serious disorders that can be helped with a special diet or other treatment to be picked up early and treated. Twenty-eight disorders are currently tested for in New Zealand.
Kate and Mike Legge live in Queenstown. Their son Charlie was born in June 2006 following a trouble-free pregnancy and labour. Like nearly all babies born in New Zealand, Charlie had a heel prick in the first couple of days after birth. The results of the heel prick indicated that Charlie could have Cystic Fibrosis, and follow-up tests confirmed this.
Cystic Fibrosis is an inherited disorder. Normally the mucus in our bodies is thin and slippery and works as a lubricant. In Cystic Fibrosis, however, the mucus becomes very thick and sticky, blocking the tiny tubes and ducts of various organs. In approximately 90 percent of people with Cystic Fibrosis, the ducts in the pancreas are blocked and digestive enzymes produced by the pancreas are unable to flow into the digestive tract. Mucus may also block the tiny bronchial tubes in the lungs causing shortness of breath and a cough.
Kate says she and husband Mike knew nothing about Cystic Fibrosis before Charlie's diagnosis.
"I happened to be at the doctors with Charlie for something else - a rash - on the day the doctor received the letter with the results of Charlie's heel prick. He sat me down, told me the results, and said the next step was to go to Invercargill to have more tests done. He was very reassuring.
"We went to a paediatrician in Invercargill, and Charlie had a sweat test, which involved taking a sample of his sweat and testing it for salt. In Cystic Fibrosis there is a greater than usual amount of salt in the sweat.
The Legge's received the results the same day, while they were in the car driving home.
"We went back to the paediatrician the next day. I was in shock but I was trying to keep it together to learn as much as I could. The paediatrician we saw was amazing - very reassuring and positive. He said that he knew some children with cystic fibrosis who were playing competitive rugby."
Kate Legge says that although the diagnosis was a huge shock, finding out so early that Charlie had Cystic Fibrosis meant he could be treated immediately. This means his lungs will remain much healthier than if the condition had been picked up later.
"I would definitely encourage every parent to ensure their newborn baby has a heel prick. Once you know your child has a condition like Cystic Fibrosis, there are many things you can do to help him or her have a really good quality of life.
"We started giving Charlie pancreatic enzymes straight away - he has to have them every time he has food. I give him physiotherapy twice a day to dislodge the mucus in his lungs - half an hour in the morning and half an hour at night.
"Because colds and the flu can be much more serious with Cystic Fibrosis, as he grows up we will make sure he eats the rights sorts of foods, and gets a lot of sleep."
She says keeping the house dust-free is also very important.
"I hate cleaning, but I make sure the house is really clean so he doesn't get dust mites in his lungs. There are also other things you can do - like aromatherapy - to help him breathe more easily."
Kate says Charlie is a happy, contented baby, and she and Mike dote on him.
"He will pretty much be able to do all the things that other children do. We’re going to give him as normal a life as we possibly can - but having said that, even my family can't help but spoil him a bit more!"