New service at Scottish hospital helps baby beat cystic fibrosis

However, they are now the proud parents of Thomas - born free of the disease - after becoming the first to benefit from a new service set up at a Scottish hospital.

It is now hoped that more couples living under the cloud of genetic disease can be helped to have children without the fear their offspring will suffer from serious illnesses.

Thomas was born on 14 November last year after doctors used a test, known as pre-implantation genetic diagnosis (PGD), to screen his parents' embryos for cystic fibrosis.

The Western General Hospital in Edinburgh says it is the first in Scotland to offer the service received by the Smith family and is helping more couples.

Lee, 40, and Stephen, 37, from East Lothian, had the treatment because both are carriers of the gene that causes cystic fibrosis.

Neither knew they were affected by the gene until their first child, Eden, now four, was born with the condition.

Mrs Smith said: "There was no history of cystic fibrosis in either of our families, so it came as a shock when Eden was diagnosed with the condition after she was born.

"We probably spent the first three years in shock and trying to make sure we could deal with Eden's symptoms.

"Although she is generally quite well we have to be careful she doesn't catch any infections, as her immune system isn't as able to fight infection."

About one in 25 people carry the faulty gene, but it is only when two carriers have a child together that the condition can be passed on.

There is a one-in-four chance that a child born from two carriers of the faulty gene will have cystic fibrosis and a one-in-two chance of them being a carrier.

PGD involves the testing of embryos, created through IVF treatment, to ensure they are free of genetic conditions, before they are implanted.

As well as cystic fibrosis the test can also be used for other illnesses caused by a single gene, such as fragile X syndrome.

Other clinics in Scotland have offered patients access to PGD, but until now this has involved sending samples to England for testing.

The Western General now hopes to help up to 15 couples a year in similar situations to the Smith family.

After caring for Eden and managing her symptoms, the couple decided to undergo PGD to ensure their next child was free from the condition.

"Looking after one child who has cystic fibrosis can be tough at times, but if you had two children with cystic fibrosis, trying to ensure both were kept well and don't cross infect each other would be much more difficult," Mrs Smith said.

"We always knew that we wanted another child, and we were really pleased when we got the opportunity to undergo this treatment."

Mrs Smith said they had been lucky the fertility treatment worked the first time.

"I was keen to get things moving as my biological clock was ticking," she said.

Dr Mary Porteous, consultant in clinical genetics at NHS Lothian, said: "It is fantastic that we are now able to offer this treatment for couples who are affected by single gene defects, and I am pleased that Lee and Stephen were the first couple to benefit from it.

"Being able to carry out pre-implantation genetic diagnosis for single cell defects is a tremendous step forward and I hope this will benefit many more families in Scotland."

The treatment is only offered to couples who already have an affected child and is being provided to NHS patients.

Dr Porteous said they now had five other couples who were undergoing tests using PGD who came from all over Scotland, including two from the Lothians, Glasgow, Aberdeen and Dundee. They hope to help between six and eight couples before April.

A spokeswoman for the Cystic Fibrosis Trust said: "Prospective parents who know they are carriers of the faulty gene that causes cystic fibrosis, usually because they already have one child with the life-threatening condition, often think long and hard about whether to have a second child.

"Pre-implantation genetic diagnosis is a way of enabling them to have a child who will not be born with cystic fibrosis.

"Previously, people in Scotland had to travel to England for this treatment so it is great news that it is now available closer to home."

BACKGROUND

Cystic fibrosis is one of the UK's most common life-threatening inherited diseases, affecting more than 8,500 people.

The condition affects the internal organs, especially the lungs and digestive system, by clogging them with thick sticky mucus, making it hard to breathe and digest food.

According to the Cystic Fibrosis Trust, each week five babies are born with the disease and two young lives are lost. About half of people with cystic fibrosis can expect to live over 38 years, although improvements in treatments mean a baby born today could expect to live even longer.