PGD Patient Story
David and I started trying for a family in December 2002 and we were overjoyed when we did a pregnancy test a few weeks later and it was positive. Things seemed fine until we went for our 20 week scan. The radiographer had picked up a small amount of fluid on the baby's lungs. He told us to come back later that day for a consultation and a closer look. I could tell he was concerned, and was told he could see too much fluid in my baby's body; in fact his whole body was larger than it should have been. After further investigations it was found that there was a problem with our baby's heart.
Two days later I was referred to a foetal heart specialist who re-scanned the heart. The consultant gave us the devastating news that our baby was very poorly, he had fluid in all his organ cavities and she felt he had little hope of surviving the pregnancy and asked us to think about a termination. We were devastated but decided we wanted to give him the chance to try a little longer but when we got back to the hospital on the Monday morning we discovered that Daniel had made that decision for us as there was no heartbeat, our baby had died. To add to our anguish, I then had to give birth to Daniel. I was induced and it took two days for him to come out, it was horrendous.
Back at home we both struggled to come to terms with our loss and coped quite differently. I went on the internet desperately trying to work out what had happened, whereas Dave went very quiet. The post mortem showed Daniel had died because of a condition called hydrops fetalis too much fluid in the foetus; this can be caused by an immune problem in the mother or because of a heart abnormality. We saw a geneticist but unfortunately there was little research in this area and in the end the conclusion was that we'd probably been unlucky and we were told to go away and try again.
So we did go away and try again and I fell pregnant 3 months later. We were ecstatic but wary, the hospital scanned me every two weeks and at 18 weeks I found out we were having a boy. This time I felt him kicking, which I hadn't with Daniel and I started to feel a bit safer. On News Year's Eve 2003, I was being scanned when the consultant suddenly went quiet, she had found some fluid on the baby's lungs but because of the holiday period we had a worrying 7 day wait to see a foetal cardiologist. This time there was no mistaking the signs. We could see on the screen that his heart was all over the place. We were ushered into a family room to talk things through and we decided we wanted to give our baby the chance of life. The doctors weren't positive but agreed to put me on a drug which slowed the baby's heart down so he wasn't so stressed, while they thought about what to do. I went home and didn't get out of bed for 4 days, I didn't shower or eat, I just lay there and cried. I was scanned every other day and watching my baby as he fought for life was almost too much to bear. After 5 weeks I'd had enough and begged the consultant to terminate. Bizarrely she refused and said there was still a chance he'd make it. We took hope from that but at 27 weeks they decided he was at risk of being overwhelmed by the fluid and had to come out.
On February 11th 2004 our son Jamie was delivered weighing 3lb 5oz. He was whizzed off to special care and I never expected to see him again, but a few hours later a nurse came to say he was holding his own and was doing better than they could have ever expected. I was wheeled in to the special care unit to see him and there he was, our baby boy. Although he was covered in drips and monitors his skin was pink and at times his eyes were open. We were allowed to touch him through the bars of the cot but not hold him. All the next day Jamie fought for his life, but by late evening a scan had picked up a severe bleed on his brain. It was suggested we let him die peacefully, so they took everything off him except a line for the morphine and put him in my arms. He slowly stopped breathing and died within a few hours. We went home and fell apart.
Jamie's post mortem confirmed that his heart had developed abnormally so we were both tested again for chromosomal abnormalities. The tests came back negative. Although no one could confirm it I was convinced it was something to do with my babies being boys. Our geneticist Professor Young had heard about a French team that was researching chromosomal links into foetal heart valve disorders and he sent off a tissue sample from Daniel in the hope they might find some answers. Sadly that too drew a blank. In the meantime we decided to try again for a baby, all our friends were now pregnant or had babies and we didn’t want to think about the possibility of never having a child. Our third pregnancy was confirmed in July 2004, again I was scanned every two weeks but at 16 weeks I began to bleed. I went straight to hospital but they couldn't find a heartbeat, I was admitted that night and by morning a scan confirmed he was gone. Again I had to give birth to our baby which again was a horrendous thing to go through. The hospital didn't want me to see him but I insisted, I held him and called him Jason.
After Jason things were pretty hard, I hit rock bottom. I had two hours of bereavement counselling each week and joined SANDS the stillbirth support group and they just about kept me sane. But despite everything we'd been through I wasn't about to give up. When Jason died a consultant had told me about sex selection and in December we came to CARE in Nottingham to see if we'd be suitable candidates.
CARE offer sex selection for specific disorders which are passed down to one sex but because no specific chromosomal abnormality had been found in our case, we had to be referred to the HFEA for special approval. Everyone agreed that I was probably carrying a faulty gene that passed via me the mother to my sons, but no one could confirm it, it was extremely frustrating.
In the meantime we went on holiday for Christmas and I came back pregnant. I had no idea how I was going to tell Dave. I didn't even tell my own doctor until 14 weeks in case he had a heart attack! We had a 50-50 chance of having boy and 50% chance of a boy inheriting any chromosomal disorder I may have. Surely I couldn't be unlucky again? At my 20 week scan we were terrified. The foetal cardiologist had a look at the baby's heart and confirmed it was fine to our relief. A student then gave us the news that it was a baby girl and I knew there and then we were going to have a healthy baby. Dave and I had the biggest smiles you could imagine. We left and bought a pack of pink baby grows, the first thing we'd ever bought for our babies. Katie was born by planned Caesarean section on September 16 2005, healthy and weighing 7lb 9oz. It was the best feeling, finally after all that misery we were happy.
When Katie turned one, we decided we'd like to try for a sibling to complete our family. Since having Katie we realised how much we had to lose and I simply couldn't cope with the death of another baby. We went back to CARE who gave us a 25% chance of succeeding with a girl. In February 2007 with special permission being granted by the HFEA, our IVF went ahead. Twenty eggs were retrieved, 12 were fertilised with Dave's sperm and a cell was taken from each embryo and sent for testing. Of the ten successfully examined, four were chromosomally abnormal.
Two female embryos were put back. I was supposed to wait two weeks to do the test but did it a day early. I came running downstairs waving the pregnancy test at Dave. We were over the moon. My pregnancy was text book and I was so comfortable and sure everything was ok I asked them to stop scanning me at 30 weeks. Jessica was born on November 23rd 2007 and we are finally the happy family we longed to be.
Donna & David Gledhill.