Hopeless Diagnosis? Living with and Learning from Retinoblastoma

By Jed Stevenson

Now Is Good, a film based on the short but inspiring life of a woman who died of leukaemia at the age of 19, opens this week. I haven’t yet seen the film.

But during the past year I’ve played a part in a drama that strikes too similar a chord.

My protagonist is much younger. Thankfully Asa’s chances of survival are better.

Asa at 7 months, showing the “cat’s eyes” effect that is one of the warning signs of retinoblastoma. There is more information on signs and symptoms here

My son was diagnosed with cancer at the age of 11 months. He has retinoblastoma, a cancer of the eyes that occurs almost exclusively in infants.

At the time Asa was diagnosed, we were living in Ethiopia, where my wife was working for the UN refugee agency.

Hospitals in the Ethiopian capital, Addis Ababa, see about 10 cases of retinoblastoma a year (the actual incidence is much higher), but the treatment they are able to provide is very limited.

So we hurried to England, my home country, where specialist care is available through the National Health Service.

Since then we’ve learned several lessons.

1. Neither heredity nor environment explain everything

Some of the basic facts about retinoblastoma have come as a surprise.

Retinoblastoma was the first cancer to be tied to a specific genetic mutation [1]. But in most cases the mutation arises spontaneously. That’s the case for Asa — neither his mother nor I carry the mutation.

There are no known environmental risk factors, either.

Unlike, say, lung cancer, there is no known exposure that raises the risk of this disease.

The fact that retinoblastoma occurs at a predictable rate across populations — approximately 1 in 20,000 (50 in a million) live births — suggests that, instead, it’s something that humans in general are vulnerable to, a kind of design flaw for making a new person [2].

2. Getting by with partial vision

Another lesson we’ve learned is how well a child can get by with only partial vision.

Asa has tumours in his right eye that almost completely obscure his central vision, and in his left eye the retina is partially detached (which means his vision through that eye is imperfect).

Asa marvels at things, at 18 months old.

But to look at him you wouldn’t know anything was wrong.

Even with the deficient signals from each eye, he’s able to run, play, make eye contact, and marvel at things — apparently just like any other toddler.

3. Living with uncertainty

Now, nine months into treatment, we’re learning that even with the best care in the world, clinical outcomes are far from certain.

Retinoblastoma is no longer a hopeless diagnosis, as it was only 30 years ago [3]. Children with access to the best treatments are very unlikely to die.

(It can be said without irony that if your child must have cancer, retinoblastoma is the one to have.)

But, like all cancers, it’s unpredictable on a case-by-case basis. Asa may yet lose one or both eyes.

This week he received a new treatment to deliver chemotherapy directly to one eye where tumours are continuing to grow.

The treatment, pioneered in New York in 2006, is often successful.

But partly because the method is so new, there’s uncertainty about its effectiveness in the long term.

4. Take things one step at a time

For now, we’re focused on the steps immediately in front of us: recovery from the latest chemo, and readying ourselves for the eye exam in a month’s time, when we’ll learn whether “it’s worked.”

By two and a half years, the chances of new tumours will decrease as the retina’s rate of natural growth slows down.

By five years, Asa may be out of the woods.

5. Hope for the best

The pace of progress in clinical treatments for retinoblastoma has been brisk in the past few decades.

Asa benefits from that.

Research currently underway may not bear fruit soon enough to help him, during this critical period before age 5 when he’s most vulnerable.

But in 10 or 20 years time there may be breakthroughs that children of the next generation can benefit from.

In tandem with new treatments, advances in genetics and epidemiology should shed more light on the aetiology of retinoblastoma and other cancers.

And — if there is any justice in this world — access to the best treatments should expand to include children in Ethiopia and other countries where retinoblastoma remains a hopeless diagnosis.

Editor’s Note: You can find Jed’s heartfelt and precise recounting of his family’s experiences with Asa’s cancer on the blog O Our Asa. On September 21st, Jed and his family are walking across London at night to raise money for the Childhood Eye Cancer Trust. Every penny will go towards research on retinoblastoma. To contribute, please go to justgiving.com – walk with Asa.

Notes and References

-Now is Good is based on the novel Before I Die, by Jenny Downham (2007).

[1] Friend, S. H., Bernards, R., Rogelj, S., Weinberg, R. A., Rapaport, J. M., Albert, D. M., & Dryja, T. P. (1986). A human DNA segment with properties of the gene that predisposes to retinoblastoma and osteosarcoma. Nature, 323(6089), 643–646. doi:10.1038/323643a0

[2] Evidence for the incidence rate across populations is reviewed in Kivelä, T. (2009). The epidemiological challenge of the most frequent eye cancer: retinoblastoma, an issue of birth and death. British Journal of Ophthalmology, 93(9), 1129–1131. doi:10.1136/bjo.2008.150292

[3] Judith Kingston. (2012). The changing face of Rb management. In Focus (The Newsletter of the Childhood Eye Cancer Trust) 25th anniversary issue, pp. 18-21.

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