Case studies

 

Michelle and Russell Teague

Lila SaundersMichelle and Russell consider themselves extremely lucky that PGD was successful first time for them. Without treatment there was a 50/50 chance that their child would have neurofibromatosis 1.

At first they questioned if this was the right way to start a family, but after much discussion they both agreed it was.

They found the treatment easier than first thought and they found the most difficult part was waiting for the phone call to tell them if and how many healthy embryos there may be to use. They only had the one, but she was a fighter and they now have a beautiful daughter Lila. Michelle and Russell will remain ever grateful for what everyone has done for them.

Verginiya and Angel Gutova

Verginiya and Angel desperately wanted to start a family but a family history of polycystic kidney disease on the husband’s side never gave them piece of mind. The chances of their child having the disease was 50\50 and they did not want to take the risk.

VergVerginiya and Angel Gutova with their daughter Annainiya and Angel began researching on how they could have a healthy baby and spoke to their GP. They were referred to a genetic consultant who explained all the options available. One of them was PGD. After the consultant explained it in detail they immediately knew they wanted to proceed. As the couple were unable to afford PGD they were interviewed in order to be approved for NHS funding.

Verginita said "the day of the interview came and we met our lovely and so amazing genetic counsellor. At the end of the interview she told us we were approved and we couldn’t believe it. It was happening. One year later my cycle started and our beautiful and healthy baby daughter, Anna came to the world on December 25 2015. Our dream came true and we couldn’t be happier. We can’t thank all of the PGD team in Guy’s and St Thomas Hospital enough for all of their efforts and hard work to make this miracle happen."

Michael and Emma Chiocci

One couple who have been helped by the centre are Michael and Emma Chiocci from Wiltshire. Michael and their son Joshua are both affected with neurofibromatosis type 1(NF1), a condition that can cause multiple tumours in different parts of the body possibly leading to complications in the eye or spinal cord, and in rare circumstances can become malignant. Some children will also have learning difficulties.

Emma said "neurofibromatosis is a bit like a lottery as you have a 50 per cent chance of passing it on and due to its varying nature, it is impossible to predict how severe the effects will be.

"When we were told that NF was on the list of conditions accepted for PGD, we were ecstatic, and applied for PGD funding.

"We started the course with some trepidation, not knowing what to expect, or how far through the process we would get. When the pregnancy test came back positive we were both over the moon."

Nine months later, Emma gave birth to baby Oliver who weighed 7lb 7oz. She added "he is not only healthy but he is free from NF1 which is such a relief. The staff at Guy’s and St Thomas’ have been fantastic and we were looked after throughout the entire process. We only hope that many others are able to benefit from the same fantastic treatment in the future."

Manuela, Owen and Zara

Some couples undergo PGD to help ensure they have a child unaffected by an X linked condition such as Duchenne muscular dystrophy.

Duchenne muscular dystrophy is a severe life limiting condition and mainly affects boys who have symptoms from about two years of age. Many of the families we treat will have grown up with and cared for affected, brothers, uncles, cousins or nephews.

Manuela Hayes recommends PGD to couples that have the worry of passing a genetic disease to their children.

Manuela said "PGD was able to take away the scariest decision parents have to make, which is wh­ether to have a term­ination. Parents may have to face this decision when th­ey know their child will be afflicted wi­th a disease that will affect both the child’s quality and length of their life. Whiche­ver decision you make in that situation you are left with li­felong emotional sca­rs.

"While going through PGD it felt like our PGD genetic counsellor was genuinely inves­ted in the process with us and regularly provided up­dates and informatio­n.

"We felt supported th­rough the whole proc­ess, and the steps were explained in a way which enabled us to have a good unde­rstanding of them. This meant th­at we could make an informed choice of how to proceed.

"We cannot thank the PGD team enough for helping us and for the wonde­rful daughter we got from the PGD proces­s."