Monday January 22, 2024
Despite advances in retinoblastoma treatment, effective care is challenged globally by delayed diagnosis. Early diagnosis saves lives and improves sight-saving options. Rb survivor and WE C Hope CEO, Abby White, explores common reasons for delayed diagnosis, four pillars needed to achieve routine early diagnosis, and how our One Rb World community is united in this goal.
Retinoblastoma is the most common eye cancer of childhood, primarily affecting babies and children under five years old. Despite significant advances in treatment over the last 40 years, it remains a formidable challenge globally.
The biggest barrier to effective care is delayed diagnosis and treatment. Risk to the child’s life and sight grows along with the cancer. The potential for other lifelong negative impacts also increases – particularly when the family has limited access to psychosocial support and vision services.
Early diagnosis can significantly enhance treatment success, saving a child’s life, and improving the potential to safely save sight. The smaller tumours are when first identified, the easier they are to control and destroy, with less intense therapies, and possibly fewer rounds of invasive treatment.
Sadly, at present around the world – in both developed and developing countries – early diagnosis is the exception, not the norm. To radically enhance opportunities and outcomes for children and families globally, we need to improve this essential stage of retinoblastoma care.
Achieving early diagnosis needs a combined approach, embracing public and professional awareness, regular eye examinations, and prompt specialist referral. Each element is a vital part of pre-diagnosis, like the legs holding up a table – remove one, and the table collapses. Let’s look at each in turn, and how they can influence the child’s timely diagnosis and care.
Putting Retinoblastoma in the Public Spotlight
An anonymous parent of an 8-year-old bilateral Rb survivor reflects on how learning about retinoblastoma signs led to her child’s early diagnosis:
“I had seen posts on Facebook about the white glow in a child’s eye over the years. When my son was 6 months old, I saw a similar glow in a photograph during the holiday season. I immediately remembered this could potentially be retinoblastoma, and reached out to a friend who happened to be a survivor, for her opinion.
Because I knew how severe this could be, I showed up at my pediatrician’s office the following Monday and was immediately referred to Children’s Hospital Los Angeles. There, only 3 days later, we received the diagnosis of bilateral retinoblastoma. I am immensely grateful to organizations like World Eye Cancer Hope and Know the Glow for sharing such important information through social media channels and newsletters.”
Public knowledge of retinoblastoma early warning signs like leukocoria (white pupil glow) and strabismus (turned eye) is crucial. Early detection often hinges on a parent, caregiver, or friend noticing these subtle yet significant changes, and knowing enough about them to seek medical care.
The white glow is only seen in certain low light conditions or flash photos, and is fleeting in the earliest stages of retinoblastoma. It can easily be dismissed as a trick of the light or harmless reflection, faulty equipment or poor photography technique, or even a figment of one’s imagination. Months may pass before parents begin to notice the glow appearing consistently in photos. By the time it is easily seen with the naked eye, the child needs urgent care.
Turned eye is a common developmental change in very young babies that self-corrects by around 3-6 months old. In older children, it can be considered a common and benign problem that reduces vision. In both age groups, this sign can easily be dismissed as non-urgent; the subsequent delays in eye-exam and care can prove fatal to the child’s vision and life.
Enhancing public awareness can bridge the gaps between onset, observation, and recognition of these and other signs, and seeking an eye exam. This is especially true in areas where access to medical care is difficult.
These two short public awareness videos share similar information, tailored for the UK and East Africa.
Read more about the common and not-so-common signs and symptoms of retinoblastoma.
Professional Education Empowers Effective Healthcare
The mother of an adult bilateral retinoblastoma survivor recalls a difficult challenge that many parents still face today, decades after her experience as a young mother in America:
“The first doctor I took my daughter to told me I was being an overprotective parent and there was nothing wrong with her. I waited a few months, but knew in my heart that the cat-like reflection I saw in her eye was not normal.
From then on, I would not take ‘no’ for an answer, and did everything physically possible to get her the proper doctors, diagnosis, and treatment. Education about the white reflex is key to an early diagnosis, and I often wonder what her life would be like if I hadn’t listened to the original doctor.”
Primary healthcare professionals and paediatric specialists play a pivotal role in recognizing potential retinoblastoma signs early. These people include:
- GPs/family physicians.
- Health visitors.
- Paediatric nurse practitioners.
- Ophthalmologists, orthoptists, optometrists, and opticians.
They may be alerted to warning signs by a concerned parent, or identify them by chance during a routine well-child or eye health exam.
Tailored education, training, and resources for these frontline workers can speed up referral and diagnosis. This is vital for several reasons:
- Especially in the early stages of retinoblastoma, it can be difficult for the healthcare professional to see what the parent has observed at home, in a very specific set of circumstances (lighting, position of the baby, direction of gaze in both parent and child etc.). Even with a thorough eye exam using dilating eye drops in dim-light conditions, the primary care provider may be unable to see small anterior tumours. With no evidence, the doctor can easily dismiss the parent’s concerns and fail to examine or refer the child.
- The common and less common signs of retinoblastoma masquerade as less serious conditions that may have a wait-and-watch approach – delaying referral to ophthalmology for an eye exam and diagnosis.
- Healthy fundal (red) reflex looks different in lighter and darker eyes, but most medical education training resources are based on white people. Knowing what is healthy and concerning in different coloured eyes aids early diagnosis for all patients.
- Careful examination of both eyes in an infant or young child requires specific training, practice, and patience. Often, referral to a specialist experienced in the examination of paediatric eyes is preferable.
- When the primary care provider recognizes that referral is needed, knowing where and how to refer the child is vital for effective care. Different approaches to referral will be more or less effective depending on the local circumstances
In retinoblastoma, primary care education has a lifelong perspective. We hope the young child sitting on their parent’s lap in the doctor’s office will grow up to advocate for their own healthcare. If they have an RB1 mutation, they will have lifelong cancer risks. They may rely on their doctor’s awareness of retinoblastoma to help save their life again one day.
A parent in the UK shares their experience of a chance early diagnosis:
“Our daughter never had white eye show in photos. She only had an increasingly pronounced squint. If she hadn’t had an eye exam when we changed GPs, she might not have been diagnosed until very late. Despite not having white eye, her cancer was still [staged] E, and her eye was removed a week later.”
Awareness campaigns and education programs encourage the public and healthcare providers to be vigilant for early signs of retinoblastoma. Early recognition and prompt action, especially when the parent brings their concerns to the healthcare provider, lead to the child’s best possible outcomes.
However, many families in ow and middle income countries (LMICs) do not own a camera or smartphone, and have limited access to healthcare. This leads to further delays in communities where prompt diagnosis is even more critical; often it is the difference between a child living or dying.
Worldwide, school-based vision tests come too late for most children with retinoblastoma (and other vision threatening eye disease). These tests also only assess vision – they rarely involve examination of the eyes for signs of eye disease such as turned eye and white pupil.
Regular Well-child eye exams throughout infancy and early childhood are vital, complimenting public and healthcare provider awareness. When families struggle to access eye care, routine community outreach eye exams are the best way to find children whose early signs may not otherwise be noted or acted upon.
Until recently, widespread community outreach eye exams were difficult to deliver due to the cost of buying and maintaining traditional ophthalmoscope equipment in resource-limited settings – primarily very rural communities with limited, intermittent, or no electricity supply. The Arclight ophthalmoscope is now changing the landscape of eye exams in these regions of the world, and the potential for earlier diagnosis.
The Arclight is a compact, low-cost, high-tech, sustainable, and portable ophthalmoscope, empowering healthcare workers everywhere to screen children for early signs of eye disease, including retinoblastoma. Designed specifically for service in low resource settings, where these conditions have the most devastating impact, it has huge potential to change the course of childhood eye cancer care.
There are countless ways to deliver routine childhood eye screening. Later this year, we’ll look at some of the varied approaches around the world.
In the following video, can you identify which findings indivate the child needs a specialist referral? Answers are shown after each image is presented – test begins at 2:00.
Two parents in developing countries share their experience of failed referral and delays in accessing care:
“Our local clinic advised us to go to the main hospital to see an eye surgeon, but we had no way to get there and pay the bill. We didn’t know how much it would be, but we knew we couldn’t pay.
By the time we came to the hospital, the cancer was big and we have been told nothing can be done now.
We were just told to go to the eye hospital, not that our child had cancer or could die. If you’re told to see an eye doctor, you don’t think the thing can kill.”
* * *
“We were sent to five different hospitals before we got to the right place that could treat our daughter. The local clinic referred us to a church mission clinic, who sent us to the district hospital, where we were passed to the regional hospital. They said we must go to the city, but by that time it was 3 months later and we had no money left. We really struggled.
Throughout this article, I have used two words frequently: “detection” and “diagnosis”. They mean different things, and understanding that is Important, because referral is the key step between detection and diagnosis.
Detection: the act of finding or noticing something, such as a white glow in the pupil that may indicate something is wrong with the eye.
Diagnosis: the process of identifying the specific condition causing the signs and/or symptoms, using various medical exams and assessments.
Early detection of signs that could be retinoblastoma is the first step towards effective care. Once retinoblastoma is suspected, rapid referral is vital to achieve timely diagnosis and treatment.
Delays in referral lead to progression of the cancer, resulting in more invasive treatments, less opportunity to save eyes and vision, and higher risk to the child’s life. The sooner the child reaches specialist care, the better their prospects will be for effective care and a good outcome.
The urgency of specialist retinoblastoma care underscores the need for streamlined referral, and family support throughout the process.
Education and awareness among primary healthcare provider is critical at this stage of care. Because the early signs of retinoblastoma can masquerade as less serious eye conditions, referral may be made with less urgency, or the child may be sent to a facility that lacks appropriate diagnostic resources or expertise.
Families often experience several escalating referrals through layers of healthcare (e.g. family doctor, primary eye care, paediatric ophthalmology, retinoblastoma specialist team) before receiving a definitive diagnosis. As well as delaying care, this costly process can deplete a family’s financial resources and ability to access treatment once the diagnosis is finally made.
Effective primary healthcare education includes both increasing knowledge and understanding about the early signs, and appropriate urgent referral steps in the local setting to support the child and family.
This also includes knowledge and structural support within the healthcare system. For example, insurance providers and established pathways of care may hinder rapid referral to specialist care if its process requires referral through additional layers of care. Doctors struggle to provide care for uninsured children whose families have no financial means, even when they know the need for care is urgent.
The family also needs support as they follow through on the referral, especially when access to healthcare is limited. Identifying and meeting the family’s needs early can avoid unnecessary delays and stress. For example:
- Practical: Travel, accommodation, care for other children.
- Financial: Cost/funding of the referral, anticipation of treatment and living costs during care, loss of income due to seeking medical care.
- Psychosocial: Fear of the unknown, need for understanding support.
For most families, retinoblastoma is a new, shocking, and totally unknown diagnosis. Even when parents see the signs and learn about the cancer through Dr. Google or awareness campaigns, referral makes real the possibility of cancer in their beloved child.
Signposting a family to quality educational and support resources early during the referral process can empower them on the journey. For example:
- They can connect with others who have “been there”, understand the anxiety, and share hope.
- They are more able to advocate throughout the referral and diagnostic process, and to understand what retinoblastoma staging means.
- They are more prepared to discuss treatment options, ask questions, and make informed decisions for their child’s care.
In extreme cases, fear and denial can prevent some families from following through with the referral. This fear can also lead parents to delay seeking medical advice when they first see the early signs of possible cancer, or to accept a primary doctor’s assurances that the child is fine.
This natural human response highlights the importance of referral as one sturdy leg supporting swift early diagnosis.
Attentive support during referral can help ease family fears, identify needs and give much needed hope. Regular eye exams can identify early signs in children, even when parents are hesitant to raise their concerns, or those concerns have been previously dismissed by healthcare providers. While campaigns that repeat simple awareness messaging can help both parents and healthcare providers make good decisions for the child.
Diagram of a structured medical referral protocol for children with suspected retinoblastoma in Kenya, detailing the roles of primary care, secondary specialists, and tertiary retinoblastoma teams in diagnosis, treatment, and follow-up care.
Delayed diagnosis of retinoblastoma is a global challenge, transcending borders and socioeconomic status. Across the world, individuals, teams, communities, non-profits, retinoblastoma programs, and even health ministries are working on strategies to improve early diagnosis.
Our goal is the same, but we are a diverse world. We have differing human and material resources, health systems, ideas, approaches, and experiences.
Our diversity shows there are numerous ways to implement public awareness campaigns, healthcare education, screening programs, and referral pathways. An effective strategy in one country or region may not translate well to another, while some may be universally effective with minimal adaptation.
We can all learn from one another, test approaches, take ideas and create something new. And we can work together to advance early diagnosis worldwide. Collaboration can lead to innovative strategies, and encourage us all along the way as we strive for the child’s best care.
Sessions from past One Rb World meetings showcase just some of the many opportunities that exist to improve early diagnosis around the world. This unique meeting unites parents, survivors, retinoblastoma specialists, researchers, and other advocates to explore priorities like early diagnosis that effect care. To identify challenges and find solutions together.
If you would like to join our global community sharing knowledge and experience, learning, and support as we create optimal diagnosis, treatment and lifelong care, we welcome you to the 7th One Rb World meeting this October in Honolulu, Hawaii. The meeting will be held October 15-17, just before the International Society of Paediatric Oncology World Congress which takes place 17-20 October at the Honolulu Convention Centre.
One Rb World is community, conversation, and cooperation. An inclusive global collaboration where children are welcome too – One Rb World is proud to offer a full child life program for Rb patients, young survivors, siblings, and children of adult survivors!
Please join us to learn, share, and contribute to the future we all want – where early detection is no longer an exception but the norm. The future where widespread awareness, regular screening, and prompt referral gives each child the best opportunity for life and sight-saving care, wherever they live in the world.
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.