Adults affected by Rb often wish to learn about their options when it comes to having children. Belinda Plowman talks openly about her situation and decision to start a family knowing that she had the heritable form of this rare condition. This is her story in her own words.
My name is Belinda Plowman and I had retinoblastoma as a baby. At 16 months I had my left eye removed and at 5 years old I became an outpatient at Barts in London, visiting yearly up until my late teens. My mother (pictured here) also had retinoblastoma, though at the time of my diagnosis was completely unaware that it was hereditary. My older brother, Graham does not have Rb. At the time of my treatment it caused great distress to all the family and my mum would dread every visit to Barts.
I am very lucky that my parents were always very open with me about having Rb, my mum understood what I may be going through and I could always discuss my feelings about having the condition. I have never hidden the fact I have lost my eye, I like to wear make up and I use a contact lens in my right eye.
I have always wanted children, but decided during my teens that I did not want to have children with Rb. I know that I am very lucky and although people may argue that I had a normal upbringing, I have always felt different. At school, children would make comments and I was always conscious of the way I looked. I am not confident initially when meeting people and although most are always polite and surprised when I tell them, some people have directly asked me what is wrong with my eyes.
My decision not to have a child with Rb was a choice I made myself and my parents both supported this. As a result they were always interested in new methods of treatment and ways in which Rb could be diagnosed. I remember when I was 16 talking to Mr Hungerford about having children without Rb. At the time the only way to do so would be to have a test during the beginning of pregnancy, if the result was positive you had the choice to terminate the pregnancy. Talking about it then did not really make it seem so bad, I guessed I could just try again if this happened. I met my husband 13 years ago and we married in 2004. David knew I had Rb when we met and has never had any problems with it at all. We discussed having children and agreed that we would not have a child with Rb even if this possibly meant we would not have children. It was only then the seriousness of the situation really dawned on me - If we were going to try naturally, how would we both cope with such a difficult decision if we did wanted to terminate?
One evening, whilst watching the news it mentioned PGD (Pre-implantation Genetic Diagnosis), a method in which embryos were tested for genetic faults. We contacted Barts and had a meeting with Dr Elizabeth Rosser (June 2002). We discovered that to go ahead with either PGD or testing in pregnancy they would need to detect the mutation in the Rb gene. We were also told each pregnancy had a 50% chance of having Rb. The odds were high and to have a child without retinoblastoma could be very hard and demanding.
The UCL in London were prepared to try PGD with us, but we knew it would be a very long process; it had never been done before. We were very excited about the possibility of PGD and decided to get things started. To begin with a blood sample was provided so that the mutation could be found. At this time I began thinking I could be pregnant this time next year! (I thought it was going to be so easy). I remember clearly when Dave called me to say we had received a letter telling us that the genetic fault could not been found from my blood sample. I was devastated. The only hope was that as both my parents were alive they maybe able to trace the mutation that way. Mum and dad were only too happy to help and in May 2003 we were told that the mutated Rb gene had at last been found. The main thing was that we could start the PGD process and if I did become pregnant naturally they could test for Rb.
PGD was a very long process. To start with we applied for funding from Dorset, we could not afford PGD ourselves so we needed help. So that there were no delays we paid £500.00 to the UCL (which would be returned if funding was given), this meant that blood samples from Dave and I could be looked at. After about 6 months funding was given for 2 attempts of PGD, this was great news, however the PGD was not going as smoothly as we had hoped. The UCL were having problems trying to create the test needed to go ahead with PGD.
In the summer of 2005 we still had no news and we actually started to discuss life without children. In October I started feeling very unwell, I did not believe I could be pregnant, but tested anyway, I really thought it could be something much worse. It turned out that I was actually 9 weeks pregnant; Dave and I were completely shocked. A CVS was quickly arranged and at 11 weeks I went to Poole hospital to have the procedure. It took 2 weeks to get the results. It was a terrible time, my mind was racing, one minute I would be the happiest person alive, the next I would be crying hysterically. I had always said I would terminate a pregnancy with Rb, but suddenly I was in the situation where it could actually happen and I really did lose it. Three days before the result I completely broke down, Dave and my parents were great, but I personally will never put myself in that situation again. The scientist who completed the blood test called me herself to tell me that Rb was not found; it was 5.30 in the evening. I could not believe how lucky we had been. We found out that we were expecting a girl, after everything we had been through it felt right to know the sex, we could call her 'she' rather that 'it'. That weekend we went out, bought some pregnancy books and a tiny pink Saints baby grow! Tayla was born on 13th June 2006, weighing 6lb 3oz and she was perfect. I had never been so happy in my whole life, I suddenly realised what unconditional love meant.
We contacted the UCL to tell them the good news, we also asked them to keep trying and they took more swab samples, including Tayla's. In June 2007 we were told that finally they had success. We went to the UCL, where we met the geneticist who had worked on our case, I like to think that without Tayla the PGD may have not happened. We decided to proceed at the beginning of September. Due to time we were now only granted funding for one try so this was our one and only attempt at it working. PGD, like IVF, took 6 weeks of preparation. I had to take several different types of medication every day, which controlled my hormones. Towards the end of the 6 weeks I also had to inject myself for 12 days with hormones, which would hopefully make my body produce more eggs. It meant many trips to London, sometimes just to give a blood sample over the 6 weeks. During this time the UCL found I had a polyp, which had to be removed to continue. This had to be paid for, which was quite expensive and not something we expected. It was a very stressful time. Each visit was nerve racking, if something was not right the PGD could be stopped, luckily apart from the polyp, all was OK. The medication was not too bad, sometimes I felt very sick, the injections were probably the worst, but by this point I was so determined it would work I did not mind any side effects.
On October 17th my eggs were collected (by general anethesetic), we were then contacted every day to get an update on how everything was progressing. On the Sunday (5 days later), we were called at 10.30pm, we had 4 successful Rb free embryos, 2 of which would be suitable to implant. On the Monday we went back to the UCL. For me this was the worst part, I needed to have a full bladder, it was very uncomfortable and being very nervous only made it worse. For the implantation I lay on a bed at an angle, there was a TV monitor, just like having a scan and quite a few doctors and nurses. It was very surreal and at the end we were given a picture of the 2 fertilised eggs inside my womb. After a short rest I was allowed to go home.
You are meant to wait 16 days until you do a pregnancy test, but after 5 days I felt really weird. I was still having to take hormone tablets, which did affect me, but I felt that maybe it was something more. I could not wait so I did a test – it came up positive! I could not believe it so went out to Tesco and bought another test and did it again. It was still very early days so I did not want to get too excited, I told Dave and we contacted the UCL. I went back to London 2 weeks later and they confirmed that I was pregnant. I had to continue using the hormone tablets for next 12 weeks. At 10 weeks I returned to the UCL for the last time, they confirmed I was expecting one baby and my due date was in July.
After I finished the hormone tablets (which did make me feel sick), my pregnancy was very easy, there were no complications and at 20 weeks we discovered we were having a baby boy. Beau arrived in the world by water birth on the 12th July; he was a whopping 8lb 12oz and was beautiful.
Our family is now complete, if anyone told me 3 years ago that we would have 2 children; free from Rb I would never have believed them. Although they both do not have the dominant Rb gene, their eyes are examined (using drops to dilate the pupils) every 4 months at our local hospital. I understand that they have just as much chance as getting Rb as the rest of the population, but a part of me feels they should be checked. Even in photographs I look at their eyes, to make sure there is no sign. If Tayla or Beau decide to have children they will not have to worry about Rb, for me that is the best news ever.
PGD is a long process and it is not easy, for us it took a long time and we are extremely lucky that we had success 1st time. If anyone reading this would like to look into trying PGD I would definitely say go for it. Be prepared for highs and lows, but be positive. I do not consider Beau as a designer baby, it is not a term I like that much, and for me all we did was give him the chance to be free from Rb. PGD gave us the chance to try for another child without the heartache of testing during pregnancy. PGD will give sufferers like myself the choice, which in my view can only be a good thing.