Rachael's story

A new baby arrives. Amidst all the joy, someone notices that the baby has a slightly white pupil. The parents take the baby to the doctor, who then refers the parents to the eye specialist, who makes a clear 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?