Caught early, the cancer in a baby's eye can be treated
It was piano teacher Ruthie who recognised the condition and saved Darcey's eye.
Childalert wanted to bring this to its readers attention and hopes to prevent other children from suffering too long.
Six-month-old Darcey is now being safely treated but, her mother wants parents to be made more aware of the symptoms of retinoblastoma.
It was an ex-piano pupil who Ali believes saved the sight and possibly the life of her baby daughter. The pupil, Ruthie, was helping bath six-month-old Darcey one evening when she noticed an odd, faint yellow glow in the child’s pupil.
“My husband and I had also seen this, but Darcey was our first baby and everything was new to us,” recalls Ali, 39. “To us, she was a picture of health. But when Ruthie saw this glow, she seemed uneasy. She did not say much, just advised me to take her to the doctor. I got an appointment the next day.”
“'retinoblastoma is a treatable cancer but is often diagnosed too late to save a child's eye'”
The GP’s diagnosis, confirmed that afternoon by a consultant ophthalmologist, was devastating. Darcey had retinoblastoma, a cancer of very early childhood which develops in the cells of the retina, the light-sensitive lining of the eye. Caught sooner rather than later, there is a chance of saving the eye. Detected late, this disease can lead to loss of the eye, or spread of the cancer to a child’s bone marrow and brain.
“Darcey was found to have a grade D tumour, which is only half a degree away from having to have her eye removed straight away,” says her mother. Retinoblastomas are graded according to their position and size, with A being the least, and E the most dangerous. The tell-tale glow in the pupil, caused by the reflection of light from the tumour, is, she has since learnt, a classic symptom.
“The tumour was positioned right in the centre, obstructing her vision like a fist in front of the eye but, of course, we hadn’t known and Darcey hadn’t been able to tell us – she just compensated using her other eye,” says Ali. “But if we’d known this glow was a symptom, Darcey could have been diagnosed and had treatment earlier.”
Fortunately, Darcey’s cancer is not in the optic nerve, in which case it could have more easily travelled to the brain.
The condition is relatively uncommon, with between 40 and 50 children newly diagnosed annually. It may be caused by a genetic mutation (an abnormality in chromosome 13, on the RB1 gene) or it may be non-genetic. Darcey’s parents do not know if she has the genetic variant (in which case it could well affect her other eye) or the non-inheritable type – and, says her mother, they may never know: the baby is still too young for genetic testing, which in any case can only confirm a mutation, and never rule one out.
An articulate, intelligent woman who teaches English at a local prep school near the family’s Georgian home in Hampton, south-west London, and a keen pianist, Ali says that when a child is ill, parents stop talking about private school fees and concentrate on what matters. After the shock of the diagnosis, she says, it is the uncertainty about Darcey’s future – about whether she may lose her eye, or whether her other eye will be affected – which is most painful.
“We don’t think too much about the unknown,” she says. “Today’s reality is enough. But I know of children who have had all types of treatment, where doctors have tried for several years to keep the eye, and in the end it has to be removed.“
As with any cancer, the first priority is to save the child’s life – if need be, by the removal of the affected eye, according to Dr Ashwin Reddy, consultant ophthalmologist at Barts and the London NHS Trust, one of only two hospitals in the UK that specialise in retinoblastoma (the other being Birmingham Children’s Hospital). If the tumour threatens to spread, the eye will be removed in an operation called enucleation, followed by an artificial eye implant.
“At present, the majority of children with retinoblastoma will lose an eye,” he says. If at all possible – and especially if a child has already lost one eye – doctors will try to save the affected eye and the vision, using several treatments to shrink or destroy the tumour. These include chemotherapy, and local treatments such as cryotherapy (freezing), radioactive “plaques” (in which a disc containing radioactive ruthenium or iodine is “stitched” on to the sclera, the eye’s outer covering, thus avoiding the side effects of conventional radiotherapy) and laser therapy.
In Darcey’s case, doctors at The Royal London Hospital decided she should have chemotherapy to shrink her tumour, before any other treatment could be attempted.
“When they said they wanted to try chemotherapy, my heart sank because for me the word has very dark connotations,” says Ali. “ It might sound strange, but at first I wanted them to remove Darcey’s eye, to get rid of the cancer for good, which is the way many parents I have talked to feel. I didn’t want to live with the terror of knowing the cancer was still there. But now I’m doing everything to cling on to the hope that my child will keep both her eyes.”
In fact, the chemotherapy, given at Great Ormond Street Hospital (GOSH), London, in six three-week cycles, has gone surprisingly well, thanks partly to the support of the oncology nurses. “They have taught me how to handle it, when to give anti-sickness drugs and how to treat other side effects such as constipation,“ says Ali.
“For the first two or three days after chemo, she is usually off her food, very tired and her skin at the back of the knees and the elbows is dry. Then she bounces back. When Darcey is fine, I’m fine – when she’s having a laugh and thumping about in her cot, I’m happy.
“She’s not worried about hair loss, of course – her hair looks a bit punky now, with a tuft on top and I just brush it and tell her it is beautiful.”
At Darcey’s last examination (in which her retina is examined under general anaesthetic), after two chemo sessions, the tumour had already shrunk and was no longer visible to the naked eye; she has since had two more and now has a further two cycles to go. Dr Judith Kingston, paediatric oncologist at GOSH and Barts, and Darcey’s consultant, says the introduction of chemotherapy for the treatment of retinoblastoma in the Nineties has been the biggest advance; surprisingly, it was previously not thought to work for this type of cancer.
“Chemotherapy can produce a dramatic response, with recovery of vision,” she says (although how good the improvement is depends where the tumour is located).
Darcey’s eyes will be carefully monitored until she is 16 (even when a tumour appears to have been destroyed, in rare cases a few residual cells can survive and start to regrow after several months or even years); and the constant checks mean that if any cancerous cells appear in her other eye, doctors will catch them.
Both the Fryer-Bovills and Dr Reddy are passionate about the need for other new parents to be aware of the “glow” in the pupil which can indicate retinoblastoma.
“One way of spotting it is in a photo which produces red eyes,” says Ali. “With retinoblastoma, the light bounces back off the tumour so there is no red eye, only a disc of white. I can see that in the early days with Darcey, on pictures taken with my mobile.”
“If you can increase parental awareness, you can pick up the cancer earlier, so we may be able to save a child’s eye,” says Dr Reddy. “Sadly, many parents notice this white reflex for many months but take no action. They do not realise what it can signify and their child seems healthy. The white reflex may not be cancer, but parents should certainly see a doctor.”
Meanwhile, the Childhood Eye Cancer Trust is campaigning for information about the symptoms of retinoblastoma to be added to NHS publications given to all parents. “Early referral may mean a child will require less severe treatment. Currently, many children have an eye removed as tumours are too large to treat with other therapies,” says Joy Felgate, the charity’s chief executive.
Thankfully, advances in genetics and the sequencing of the RBI gene mean families can be screened. Close surveillance of children with a family history of the disease will lead to earlier diagnosis.
“Any child whose sibling has this condition, or who has been found to have the same mutation, will be screened until they are five,” says Dr Reddy. Even if the condition is genetic, it would not stop Ali and her husband Alistair having more children.
Ali says that, despite the illness, her daughter is lively, strong-willed, mobile, curious – “grabbing everything she can” – and full of joy and laughter, with penetrating blue eyes – “people often mention what beautiful eyes she has” – but also with surprising reserves of patience and calm.
“When we go to Great Ormond Street the treatment takes about 10 hours in all. She never makes a fuss. I have never heard her cry there. She sits and then topples over and laughs.
“She seems to love life. When I play the piano, she sings along and she has just started 'conducting’. She is coping brilliantly.”
Visit www.chect.org.uk; www.childrenseyesinlondon.com
Thank you to Cherrill Hicks of the Telegraph who wrote the interview with Darcey's mum.