Between Shadow and Light: Young Lives in Jeopardy from Retinoblastoma


Monday May 13, 2024


Worldwide, children and their families grapple with life-threatening eye cancer due to delayed diagnosis and care.  Unchecked, retinoblastoma has far-reaching consequences.  Through two family stories, WE C Hope CEO Abby White explores the impacts of low awareness, slow referral, and delayed care, and the life-saving, sight-saving opportunities they reveal.


Young Lives in Jeopardy

In the shadow of delayed diagnosis, families worldwide grapple with life-threatening cancer.  Unchecked and undiscriminating, retinoblastoma weaves a complex tapestry of challenges and heartbreak.

Meet Hannah and Katie, two little girls with cancer in one eye.  Their stories shed light on the devastating consequences of poor awareness, slow referral, and delayed care.  They also highlight how following instinct, asking questions, and sharing knowledge can transform lives and build hope.

This is the profound impact of retinoblastoma on children, survivors, and their families, raising an urgent call for action on early detection and accessible, informed care.  This cancer is highly curable – together, we can prevent children dying from delayed diagnosis and inappropriate care.

Threats Seen and Unseen: A Slow Road to Care

Hannah’s Story

In a small, rural village in southern Africa, Rachel notices a peculiar white reflection in the left eye of her 8-month-old daughter, Hannah.  It’s most noticeable at dusk, while feeding or bathing her.

At first, Rachel dismisses the fleeting glow as no one else sees it.  She is distracted by the daily struggle to provide for her family, including her late sister’s two children.

By the time Hannah is one year old, the white reflection is more pronounced, now noticed by other family members.  Hannah shows no signs of pain, vision issues, or developmental delays, but Rachel and her husband, Jonathan, feel uneasy.  They consult a traditional healer, who prescribes a herbal ointment which they apply twice daily.  The glow persists.

When Hannah’s eyes begin to appear misaligned, Rachel seeks advice from a community health worker.  He says the squint is normal; she will grow out of it, and the glow might be a sign of infection.  He prescribes antibiotic drops.  They have no effect, and the glow persists.

Shortly before her second birthday, Hannah becomes increasingly unsettled, frequently rubbing her eye.  The eye becomes red and swollen, prompting Rachel to take her to the nearest public hospital.  She walks nearly an entire day, carrying Hannah on her back – the money saved on transport will help pay the hospital bill.

At the hospital, an eye doctor quickly diagnoses retinoblastoma – eye cancer.  He explains that to save Hannah’s life, her eye must be removed.

The consultation is short and no support is offered.  Shocked and frightened, Rachel returns home with her daughter, knowing she must first discuss this with Jonathan.  With no understanding of the surgery and recovery, they imagine its effects, and resolve to save money for a second opinion in the city.

By the time they reach the city, Hannah’s eye has continued to swell, now protruding from the socket.  An empathetic doctor at the private eye hospital takes time to explain retinoblastoma and the risk to Hannah’s life.  Rachel and Jonathan begin to understand, but they still have many questions about the surgery, and they can’t afford the hospital’s treatment fees.  In despair, they go to a mission eye hospital, still hoping for a different diagnosis or treatment options.

For the third time, doctors explain that Hannah has eye cancer, and her eye must be urgently removed.  She is referred to the city’s main hospital, which has the facilities for this surgery.  Hannah is now two and a half years old – nearly two years have passed since Rachel first noticed the glow.

At the public hospital, Hannah’s doctor explains the surgery again, and the impacts of not removing her eye.  The surgery is finally done two days later, and the following week, Hannah’s family return home.

Though a follow-up exam is booked for one month later, its key role in Hannah’s care is not explained.  Financially drained, and believing the worst is behind them, her parents do not attend the appointment.

One year later, Hannah’s eye socket begins to swell, and back at the city hospital, Rachel is told the cancer has returned.  Hannah’s doctor finds the pathology report for her removed eye, but it says only “retinoblastoma”.  There is no information indicating tumour spread outside the eye, and the need for prompt chemotherapy after the surgery.

Treatment options are now limited, but Hannah begins chemotherapy, at great expense.  Rachel must make the heartbreaking decision to leave her little girl alone in the hospital, returning home to look after her other children and help earn money to pay the bills.

Reluctantly, Rachel and Jonathan remove the two oldest children from school to save some money.  High school fees, uniforms, books, and other expenses are too much when there are big medical bills, and the children’s help growing and selling produce will bring in more funds.

Hannah fights hard through months of gruelling treatment, but the cancer is too advanced.  She dies aged nearly four and a half years, far from her loving family.  In a final gut-wrenching blow, the hospital refuses to release her body for burial until the medical bill is cleared.  Her entire family is left traumatised by their experience, and financially ruined.

A baby boy looks at the camera. his right eye shows a white reflex while his left eye is turned in towards his nose.

A squint (turned eye) caused by retinoblastoma may develop with, or without leukocoria (a white pupil glow).  One sign may begin before the other, and a child may have only one of these warning signs.

a blond-haired boy smiles as he holds a red lollipop. His left eye is grey-blue with a small pupil, and looks forward. His right eye is grey-brown, with a larger, slightly misshapen pupil, turned upward and in towards his nose.

Questioning the Unquestionable for Best Care

Katie’s Story

In a small North American town, Laura notices her 5-month-old daughter’s right eye drifting outward.  Concerned, she asks the paediatrician about it.  He assures her that squints are a normal developmental change; it will most likely disappear as Katie grows, and can be corrected later if it persists.

A few months later, Laura spots an unusual white eye glow in Katie’s photos.  It shines like a pearl in her wandering right eye, but isn’t always obvious.  Again, she asks the paediatrician, who examines both eyes and sees nothing.  She feels an unease she can’t explain as she watches the doctor look into her baby’s eyes, all of them bathed in incongruent light on this hot, sunny day.

The paediatrician concludes the glow is likely caused by the squint, adding that it could be a normal reflection when being photographed.

Troubled by this explanation, Laura surfs the Internet to confirm the doctor’s words.  She is alarmed to discover that both a persistent squint and white glow could be signs of eye cancer.  Reviewing her photos, she realises the glow has been present for more than four months – before she noticed Katie’s drifting eye, and both are now more obvious.

She returns to the family doctor, showing him all the photos and the website about retinoblastoma.  This time, she insists on a specialist eye exam, and Katie is urgently referred to the nearest children’s hospital.

The following day, the eye doctor confirms Laura’s worst fear: her 8 month old daughter’s right eye is filled with cancer.  Katie is referred on to a specialist retinoblastoma team (ocular oncologist) ten hours drive from home.

Katie has her first eye exam under general anaesthetic (EUA) two days later.   When Laura and her husband, Tom, meet with the ocular oncologist, they hear that Katie’s eye could be saved with chemotherapy delivered via an artery in the back of her eye (Intra-Arterial Chemotherapy – IAC).  They are relieved to hear Katie’s eye and some sight may be saved.

Tom’s sister recently finished chemotherapy for breast cancer.  Knowing that she was treated by both a medical oncologist and breast cancer surgeon, he is surprised that Katie will not be seen by a paediatric oncologist.  Together, he and Laura ask for this referral.  They want to learn more about the treatment, and connect with the hospital’s childhood cancer support services.

The medical oncologist explains more about Katie’s cancer and what her Group E eye staging could mean.  She outlines the risk to Katie’s life if cancer cells spread outside her eye, highlighting that the proposed IAC will only treat cancer inside the eye.

A graphic showing six images of eyes at different stages of retinoblastoma progression (cT1a, cT1b, cT2a, seeding at cT2b, orbital cellulitis at cT3 and advanced extraocular disease at cT4. Below, a line labelled “Intraocular” runs from cT1a to cT2b. A question-mark is positioned below the left side of cT3. A line labelled “Extraocular” runs from about two thirds across cT3 and fully under cT4.

A visual progression of retinoblastoma through the TNM Staging System.

A segment of a table comparing the TNMH Staging System with the IIRC, ICRB and IRSS Systems.

Extract of a summary comparison chart showing TNM staging and other retinoblastoma staging systems used today.  Download the full PDF Summary document.

Tom and Laura ask about the possibility of systemic chemotherapy as an alternative or additional eye-saving option.  The oncologist says it is possible, but she feels the side effects outweigh the very small chance of saving Katie’s eye, especially as she has excellent vision in her cancer-free eye.

She recommends that Katie’s eye be removed to protect her life, avoiding months or years of invasive medical procedures and intensive therapies.  She explains the process of eye removal surgery, noting that the cosmetic fit of a prosthetic eye is best with prompt surgery.  Tom and Laura are encouraged by photos of a young girl after surgery, with her new prosthetic (artificial) eye, and skiing a few years later – the pictures allay many of their fears.

Still, they are overwhelmed by the recommendation to remove Katie’s eye.  The medical team help them consider all possible options, and the oncologist explains again that the size and location of the cancer poses a risk that cancer has already begun to spread.  Saving Katie’s life is their priority.

While at the oncology clinic, a child life specialist explains how she can help Katie through her medical procedures and adjusting to life with a prosthetic eye.  She understands the fears of an 8-month-old, and what can help ease Katie’s stress.  She can help Laura and Tom prepare Katie for surgery, making the experience less traumatic for everyone.

Tom and Laura fear the unknowns of Katie having a prosthetic eye and sight in only one eye, but the fear of losing their precious baby to cancer is much greater.  After further discussion with the ophthalmologist and oncologist together, they request that Katie’s eye be removed to protect her life.

Surgery takes place four days after Katie’s first EUA.  The following week, pathology results confirm that cancer cells were beginning to spread outside of Katie’s eye.  She must begin systemic chemotherapy immediately.

Two months later, Katie is fitted with a beautiful prosthetic eye.  She adjusts well to having no sight in her right eye, but the chemotherapy is tough.  Though her parents feel immense relief about their treatment decision, their hearts ache as they watch their little girl struggle through the side effects and changing routines.  She celebrates her first birthday in hospital, and takes her first steps in the oncology clinic.  For six months, family life turns upside-down.

A sample of Katie’s tumour and blood are sent to a genetics lab for analysis.  A few weeks later, genetic testing results indicate the cancer was caused by a sporadic RB1 mutation – the risk to her left eye is less than 1%.

Tom and Laura know they will fear the cancer for a long time.  With love and support, they begin to move forward from treatment, thankful that their daughter is alive and thriving.

Yet one thing above all continues to haunt them – If only the paediatrician had turned off the lights when he first examined Katie’s eyes; if only he had referred when Laura first asked about the squint and glow, maybe Katie’s eye and sight could have been saved.  She could have been spared this risk to her life, and months of intensive, disrupting chemotherapy.

A young African boy with short, curly black hair and a big, cheerful smile looks directly at the camera. He's wearing a cosy knitted blue sweater over a white collared shirt, and His right arm is flexed in a gesture of strength. The pupil of his right eye has a prominent pearly glow. Overlaying the wooden fence background, bold white text states "NO CHILD SHOULD DIE FROM UNDETECTED EYE CANCER." Below is a horizontal golden line. In the bottom left corner, the gold "KNOW THE GLOW®" logo is followed by the text "PREVENT CHILDHOOD BLINDNESS" in a smaller font. In the bottom right corner are the Kenyan flag and crests of the government and Kenyatta National Hospital, Nairobi.

Saving Lives, Eyes, and Sight

Hannah

Hannah’s diagnosis and treatment were delayed by low awareness among her parents and the healthcare providers from whom they sought advice.  The situation was compounded by her parents’ fear of eye removal surgery (enucleation), and lack of trust in public healthcare.

Every member of her family was deeply impacted.  From emotional trauma to loss of schooling and long-term prospects for her older siblings.  Hannah’s life could have been saved, had she and her parents received care when they first raised concerns, and these lasting impacts would have been avoided or significantly reduced.

Katie

Despite initial reassurances, Laura’s concern and persistence led to Katie’s diagnosis.  Yet the cancer was already so advanced that eye-saving treatment would have significantly endangered her life.

Her experience highlights the complex choices parents face in the midst of crisis and their quest for cure.  Early diagnosis and timely intervention are crucial to create safe and realistic eye and vision-saving opportunities.  As we aim for these goals, educating parents about all benefits, risks, and potential impacts of all treatment options is vital to protect the child’s life and wellbeing.

Final Words

While set against diverse backdrops, these two family stories converge on a single poignant truth: early diagnosis is the difference between life and death, between potential to save sight and removing an eye, between a family’s survival and destruction.  They underscore the critical need for awareness among parents and healthcare providers, the importance of timely referral and trust in medical care, and the courage to pursue knowledge.

Together, we can advocate for early detection, accessible screening, swift referral, and compassionate, understanding care.  We can empower families and healthcare providers through knowledge and support, and create a safer future for all children with retinoblastoma.

About the Author

Abby’s father was diagnosed with bilateral retinoblastoma in Kenya in 1946. Abby was also born with cancer in both eyes. She has an artificial eye and limited vision in her left eye that is now failing due to late effects of radiotherapy in infancy.

Abby studied geography at university, with emphasis on development in sub-Saharan Africa. She co-founded WE C Hope with Brenda Gallie, responding to the needs of one child and the desire to help many in developing countries.  After receiving many requests for help from American families and adult survivors, she co-founded the US chapter to bring hope and encourage action across the country.

Abby enjoys listening to audio books, creative writing, open water swimming and long country walks.

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