My dear old Dad passed away in 1977. He had been paying a visit to me and my family in Townsville all the way from London. Dad had seemingly always been somehing of a finicky eater, always fussy about what he ate. In fact Mum always said that he never ate enough to keep a rabbit going!

Not long after arrival, he started to feel really unwell and looked less than his chipper self. The local GP suggested various tests and it was obvious that he was not getting better and so it was decided that he should return to England for immediate hospitalisation. Leaving my wife and two pre-teen children, I accompanied him back to London where he entered a local hospital. Just a week later he passed away.

After making all the arrangements, I returned to Australia into the bosom of my family. Around this time I started to suffer severe back pain which was put down to my over activity with the various sports that a 34 year-old enjoyed – Cricket, Rugby and even snooker!

A few weeks after our first child was born we received a phone call from our family doctor. He had the results of a routine blood test that all children in Australia have when they are born. The test had revealed that our baby daughter Amelia (now five) was born with cystic fibrosis.

My husband Glenn and I were devastated when we found out what our beautiful new baby daughter had in store for her health-wise. A lifetime of constant medication and possible hospitalisation wasn't what we had pictured for our child.

Amelia is a happy, bright child, but has been very sick, spending a lot of time in hospital. We had always wanted more children but we were then faced with the real possibility that they too would have CF. Glenn and I didn't want to see another child go through what Amelia has and will have to go through. We felt that another child with CF would cut down on the quality of care we could give both children.

Mason was born on 20/6/96 in a private hospital in Sydney after a normal pregnancy. His older brother Brandon was 2 years old and seemed unaffected. Everything was perfectly normal until Mason had his first suck of milk. He immediately became lethargic and disinterested in any further feeding. He ended up that night in their small "special care nursery" where a large matronly nurse kept telling us that this happens to all babies and not to worry.

Over the next 4 days he slipped or crashed into a coma and his heart rate dropped in half, We were told that this was all Ok. On day 4 our Paediatrician who had been doing tests and had Mason on antibiotics called us in. He didn’t know what was wrong so he would transfer Mason to the new Children's Hospital. It had been moved from the city only a few years earlier and was only 20 min. drive from our home. The nurse took a photo of Mason as he left in the intensive care ambulance. We were told later that this is done when they don’t think the child will make it. It was off course midnight and we all spent a very bad night at Westmead hospital. Within 16 hrs they had diagnosed MMA and treated the symptoms successfully. For this we are extremely grateful. Then came the confusing and unbelievable explanations of MMA. All the medical staff quietly prepared us for the inevitable and all the reports we read pointed to a very bleak outcome. The doctors all pointed us to the metabolic specialist who was the expert. This Dr was however quite positive and saw no reason why Mason would not grow up and go to school as normal, with perhaps a slight amount of delay. We were now completely confused.

Personal stories are a way for people to tell others of their experiences of living with a genetic condition themselves, or of someone close to them.

AGSA has found that the personal stories are the most well read section of the newsletters. If you would like to submit your own personal story, please contact us at 02 9211 1462 or info@agsa.genetic-support.org.au.

Every newsletter contains a personal story. If you would like more information on our back-issue newsletters, please contact us at 02 9211 1462 or info@agsa.genetic-support.org.au.