My Family and Cystic Fibrosis

At six months old my niece, Rachel, was diagnosed with Cystic Fibrosis, a hereditary, life-threatening disease for which as yet there is no cure. I remember my brother, Jonathan, and his wife, Caroline, being over the moon at the birth of Rachel, their first child. Then within months their happiness was torn apart.

We soon discovered that as both parents were carriers they had a one-in-four chance of conceiving another child with CF. Thirty-two years ago there was no real information available to help us come to terms with a genetic illness that affects five new babies and claims three lives a week.

I have watched and enjoyed Rachel growing up. There have of course been difficulties – but Jonathan and Caroline have always been determined to give Rachel a healthy, normal life and they have managed to accommodate CF with the least amount of fuss.

Research has come on a long way. We now know so much more about the illness than we did in those early days. Treatments have developed to an extent that there is a realistic hope that a cure is just around the corner. The UK has been at the forefront of gene therapy but there remains a long way to go.

Cystic Fibrosis derives its name from the fibroids clustered around the pancreas. The disease first affects the lungs, making them extremely susceptible to infection, and over time they become more and more damaged. The condition requires constant daily attention in terms of drugs and general care. This is both expensive and interferes with leading a normal life.

CF is progressive and life-threatening. What is so urgently needed is a cure. Without one, the only option is a heart and lung transplant. A CF sufferer will be put on a waiting list in the final stages of the disease, when still strong enough to survive the operation. There are success stories but, tragically, many die. Alice Martineau, the talented singer who released the hit album Daydreams, had CF and died aged thirty while waiting for a heart, lung and liver transplant. Her tragedy is one among many – there just aren’t enough donor organs, and even after the operation there is still the problem of rejection. Thankfully this is something Rachel hasn’t had to think about.

It was scary when Rachel was at university and her parents couldnt be sure she was taking care of herself. She has done extremely well though; she travelled for a year after graduating, spending six months in Australia, and remained in good health, but had a hard time when she returned to a London winter with all the colds and so much flu about. Her main responsibility now is to keep as healthy as possible. She loves her present job as a photo researcher for a magazine. She is also a keen photographer and has published photos online. We hope, with all the wonderful research work being done by the CF Trust, that very soon there will be a cure for Rachel.

Researchers are trying to discover the causes of Cystic Fibrosis and why some people are not diagnosed until late in their lives. It was a huge leap forward when the single faulty gene was found, presenting the real possibility that CF will be the first genetic illness to be cured. There’s no doubt it will be cured. With greater funding the research will be quicker and more lives will be saved.

The Cystic Fibrosis Trust was formed in 1964 when the average life expectancy for a CF sufferer was approximately five years old. It is now over thirty! In forty-six years the Trusts work has come a long way and current research into gene therapy has opened up the prospect of CF sufferers having a normal life span. The Trust is trying to raise money to fund a consortium of three teams of gene therapists working towards a cure. The UK consortium represents the largest group worldwide working in the field and the teams are at the forefront of research. The CF Trust relies on private donations to be able to carry out its work.

Cystic Fibrosis is inherited; both parents have to carry the faulty gene for a child to be affected. Although I don’t know whether both my parents were carriers, the fact they lost two children soon after birth makes me think that the babies probably did have CF – the complications were similar. I had myself tested when I became pregnant and found that although I was a carrier my husband, John, was not, so we knew our child would be fine.

Donations can be sent to:
Cystic Fibrosis Trust
One Aldgate
Second floor
Tel: 020-3795 2176