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Skip to 0 minutes and 0 secondsWhen I was born my mum thought I was a whingy baby because I couldn’t stop crying. I was inconsolable and then about four weeks into my life my grandmother spotted that I had a glazed right eye. I was taken to the doctor and the doctor immediately referred me to the hospital and that’s how they discovered I had retinoblastoma and within 24-hours the eye was removed.

Skip to 0 minutes and 31 secondsThen I was taken to Saint Bartholomew’s Hospital and they investigated further and discovered that I had three tumours in my left eye and that they would need to act rapidly in order to save not only my sight but also my life because had it been left then secondary cancers would have developed and I wouldn’t be sitting here today. Having the 50-50% chance of passing on the retinoblastoma gene, if for example the baby where to have had the gene they could have simply been carriers of the gene and nothing would have developed.

Skip to 1 minute and 11 secondsThey might have had for example, tumours in their eyes that could be treated, either in one eye or both eyes and could have been treated successfully and in particular if this was found at birth, the chances of successful treatment are much higher. But there would also in the worst case scenario the baby could be blind, could have lost one or both eyes. I lost one eye as a baby myself because I had one tumour in the eye that I lost but I actually had three tumours in the left eye which the managed to treat successfully. But yes, it is an unknown essentially when you are having a baby with the potential to pass on the gene.

Skip to 2 minutes and 1 secondClearly this had a huge impact on my parents. It was a very traumatic experience. There wasn’t a case of retinoblastoma in the family at all that could have been traced back so it sort of happened the first time with me. And this made me think, when I became an adult and thought about having children that PGD would be my preference because I didn’t want to go through what my parents had to endure with me. It was not only the emotional impact but the financial impact as well because my parents had to save money to send me to a private specialist in London for artificial eyes.

Skip to 2 minutes and 46 secondsBut that aside, I felt that PGD was the only option for me to have a child.

Rachael's story

A new baby arrives. Amidst all the joy, a grandmother notices that the baby has a slightly white pupil. The parents take the baby to the doctor, who urgently refers the child to an eye specialist, who in turn makes a diagnosis of retinoblastoma.

The race is on to save the baby’s sight. Gruelling hours, days and weeks in hospital ensues, with chemotherapy, eye surgery, intense follow-up and continuous worry on behalf of the parents for what this would mean for the growing child.

This was the scenario that occurred when Rachael was born. Due to the swift intervention of doctors, she was able to avoid becoming completely blind, and is now only partially sighted.

Yet the experience made her convinced that she would want to anything she could to avoid the same thing happening to her own children.

Retinoblastoma is a cancer that starts in the retina, the very back part of the eye. The RB1 gene, which normally helps keep cells from growing out of control, becomes mutated, stopping it from working like it should.

It is a genetic condition but it is not always heritable; Only about 25% of the children born with retinoblastoma has inherited it from a parent.

Because all of the cells in the body have the changed RB1 gene, these children also have a higher risk of developing cancers in other areas as well.

A small number of children with this form of retinoblastoma will develop another tumor in the brain, usually in the pineal gland at the base of the brain.

Retinoblastoma is one of the best-studied conditions for gene therapy. Compared to chemotherapy, gene therapy has the advantage of selectively killing tumour cells without adverse side effects to normal cells.

However, as gene therapy is still not available for retinoblastoma, Rachael and her husband used PGD to to do what they could to ensure that their child didn’t have the mutation.

For your discussion: If you were Rachael, and you were contemplating having a child, what would you do?

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This video is from the free online course:

Making Babies in the 21st Century

UCL (University College London)