On Rare Diseases Day – Top 10 Rarely Discussed Subjects in Retinoblastoma

Monday February 29, 2016 | Abby White, WE C Hope CEO

"Our lives begin to end the day we become silent about things that matter" - MLK Jr.

Today is International Rare Diseases Day – the day the world highlights rare diseases to raise awareness to help improve care. I could share an article about what retinoblastoma is, highlighting its early warning sign of a white eye glow in flash photos, but we already have many resources about this.

Instead, I’ve decided to follow the theme of rarity, and share with you what I consider to be 10 of the least discussed subjects within retinoblastoma care. These topics are often ignored or overlooked because they are controversial and complex. While we continue to eschew them, children, families and survivors continue to suffer – sometimes even lose their lives.

The subjects below are not listed in any order of importance – each is equally important to the child, parent and survivor at different stages of the cancer journey. I have tried to list them in a logical order from perspective of the child, parent and survivor. I can’t adequately cover each subject in this article. My hope is to more deeply explore each individually in future blog posts, to give them the time and focus they deserve.

1. Eye-saving therapy benefits vs complete well-being of child and family

Major advances in chemotherapy treatment in recent years have increased potential to save children’s eyes when cancer is not threatening their life. This has radically improved outcomes for many children, especially when both eyes are affected and saving sight in at least one eye is important.

However, these enhanced opportunities to save eyes also raise challenging questions. When a child’s eye is blind, with very little or no hope of recovering vision, is intensive therapy appropriate? Perhaps the eye may be saved and be recorded as a successful outcome in scientific literature, but at what physical, emotional and financial cost to the child and family? The question is especially pertinent when the child has cancer in only one eye.

Retinoblastoma can spread from the eye to the brain or to the bone marrow. When cancer fills the eye, removing the eye quickly is vital to protect the child’s life. As more children undergo eye-saving therapy, a small but rising number of children also experience relapse of the cancer outside their eye and must endure several years of intensive therapies in a fight to save their life. Tragically, some children have died following treatment to save their eye, where they may have been cured with timely eye removal surgery.

We never talk about these children – why? Surely we can honour them and their families by learning from their trauma and making better choices that help protect other children and families.

A truly valuable research study will be comparison of survival and long-term quality of life (defined by survivors themselves) following eye-salvage therapy and enucleation. This will guide doctors and parents in making treatment decisions focused on the complete wellbeing of the child and family.

2. Psychosocial impacts of treatment at an early age

Retinoblastoma affects very young children. Over time, children’s anxiety about their repeated procedures can cause them to become intolerant of medical interventions and discomfort. Their distress may be expressed as challenging behaviours, but the procedures must occur regardless of how they feel. Many children learn to suppress emotions at a very early age, and this can manifest later in life as depression, post-traumatic stress and developmental trauma disorder. While there is no published evidence of this within the retinoblastoma population, the pattern is recognised within other young medical populations.

While child and adult survivors may not remember being anaesthetized, many describe feeling vulnerable when laying on their back, or an acute fear of their mouth and nose being covered. Experiencing the scents, tastes, sounds, textures and sights they associated with the procedure can cause some survivors to feel physically sick.

Chemotherapy often requires extended isolation at an age when children are developing key social skills. Research shows that most adult survivors function at a high social and cognitive level, but in closed forums, many report low confidence and intense anxiety, especially in large groups and crowded environments.

Research suggests there are no significant negative psychosocial outcomes for child or adult survivors following retinoblastoma treatment. Survivors and parents question these conclusions. More research is urgently needed to carefully examine the impacts of treatment, both to ensure survivors receive appropriate ongoing care, and to inform treatment decisions for children just beginning their cancer journey.

3. Psychological impact on siblings

Siblings are often overwhelmed by a raft of strong emotions. These feelings are magnified when the child is old enough to understand potential implications of their brother or sister’s cancer on the child’s life and the family’s future. Many young siblings have screening Exams Under Anaesthetic to check for signs of cancer, and the above concepts of procedure response may apply to siblings undergoing repeated procedures. Siblings often hide their feelings to spare their family more distress, though this increases the destructive power these emotions hold over the child.

In research, siblings not diagnosed with cancer are often studied as the “control” group when exploring psychosocial impacts of childhood cancer on survivors. This assumes “unaffected” siblings have no negative psychosocial outcomes. Given the above, we should carefully consider the findings of any research in which siblings are the control group. We must take care to more deeply understand how retinoblastoma affects brothers and sisters so we can support them effectively, and also to inform how we construct future research into survivor outcomes.

4. Marriage and relationships

Retinoblastoma is a major stressor, constantly heaping financial, emotional and physical demands on the family. Worry, fear, dread, fatigue, poor eating, inability to concentrate are common experiences. Yet there is less time to be with one another as a couple, to support and gain comfort from one another. When these strong emotions are experienced for prolonged periods without relief or support, depression or other serious mental illness can develop.

Most couples work well together while focusing fully on fighting the cancer and caring for the child. Once treatment ends and the community support pulls back, many parents struggle more intensely with personal feelings pushed aside during the “battle phase”. The financial aftermath and long-term implications loom large, alongside the constant fear of relapse.

Rediscovering life after treatment can be very traumatic. Conflict arises when partners have vastly different coping strategies. Relationships that held strong through treatment can strain to breaking point. At a time when the world expects them to be celebrating because their child is “cancer-free”, many couples find they are gradually falling apart.

We must carefully invest in efforts to understand how retinoblastoma affects parents at diagnosis, during treatment and beyond, particularly the different perspectives, stressors and needs of mothers and fathers. With more knowledge, we can offer effective care tailored to the specific needs of mothers and fathers and couples, so their relationship and family can survive and thrive.

5. Partner and grandparent experiences

We think a lot about how retinoblastoma diagnosis affects a parent who had retinoblastoma, or how second primary cancer risk or diagnosis affects the adult survivor. Very little thought is given to understanding how these scenarios impact the partner of a retinoblastoma survivor, or grandparents – whether they had retinoblastoma or not.

Partners and grandparents encounter many unique stressors. Understanding their experience and perspective more profoundly will enable our global Rb community to more effectively support individuals, couples and families.

6. Self-identity and relationships

Treatment and follow up care can quickly consume the early childhood years – for the child with cancer and siblings. In the midst of treatment and emotional upheaval consuming the family, it can be difficult for children to develop or retain a personal identity separate from the cancer. This may also be very true for parents, especially for first time parents just developing a new identity as a young family at the time of diagnosis.

Many child, teenage and adult survivors experience personal challenges with confidence and self-esteem. This is particularly associated with perception of the eye that was treated and saved, and/or the artificial eye.

As parents and survivors, how do our cancer experiences and perception of ourselves and one another impact our choices and how we interact with the people around us? How do we talk to others about our personal experience of retinoblastoma in school, in relationships, at work? Does the treatment or supportive care we received influence how we perceive ourselves, build relationships, communicate and interact with the world?   Knowing the answers to these questions could help us provide better care and support for children, survivors and families so they can live more enriched lives beyond active treatment.

7. Living with the burden of second cancer risk

Children who have a constitutional RB1 mutation have an increased life-long risk of certain second primary cancers. Children who have received chemotherapy or radiotherapy to treat their retinoblastoma also have an increased second cancer risk.

Parents and survivors (both children and adults) experience strong emotions about the knowledge of this second cancer risk. We worry about the risk very much when we experience unexplained symptoms, and this stress is increased when we cannot access appropriate ongoing follow-up care. This is an area worthy of research, no only in terms of identifying the high risk second cancers, but also the psychological impact of that knowledge and access to related medical care on parent, child and adult survivor.

8. Access to life-long oncology follow-up care

Life-long oncology follow up care is vital for all survivors with bilateral retinoblastoma or a known RB1 mutation. Yet most adult survivors cannot access appropriate ongoing care. Lack of knowledge about retinoblastoma and appropriate follow up care seems to be the most common reason survivors are turned away from late effects or survivorship clinics.

There is no agreement within the Rb medical community of what ongoing follow up care should entail. So it is hardly surprising that doctors unfamiliar with the cancer and risk may feel confused and uncomfortable about following survivors. We definitely need more consensus and consistency among the global Rb medical community to support and promote appropriate life-long care of survivors at risk of second primary cancers and other health issues.

9. Sight loss long after initial treatment

Retinoblastoma treatments have advanced significantly in the last 30 years. With the introduction of chemotherapy, children diagnosed today who are diagnosed early enough to save sight have vastly more opportunities.

There is, however, a large population of survivors treated with radiotherapy, who are now living with the ocular impacts of this therapy years later. Radiotherapy has undoubtedly saved sight for many survivors, including myself, but it also has significant long term effects that are rarely discussed.

Loss of sight due to radiation retinopathy, corneal vascularisation and other causes are common many years after therapy. Yet there is little focus on this in research that can actually help survivors facing these challenges. The progression to less toxic therapies has been an important step forward for children of this generation. Let’s not forget in the process of moving forward that there remain thousands of previously treated children and adults to care for effectively, so we too can continue to have hope of sight throughout life.

10. Non-ocular, non-cancer health issues.

Radiotherapy and chemotherapy can both cause health issues long after treatment for retinoblastoma has ended. Hearing loss, hormone imbalances, cardiac risks, immune disorders and other complex health issues have been documented. Often, families or adult survivors struggle to establish rapid diagnosis due to lack of appropriate long-term holistic follow up care.

Research is increasing into this overlooked area of medical care and outcomes. We need to keep it in conversation and encourage the global medical community to collaborate and incorporate what they know into an evidence based long-term follow-up care recommendation. This will translate the research into real value for families and survivors struggling to access appropriate care today.

Join in the discussion sparked by Rare Diseases Day!  What do you think are the least discussed subjects in retinoblastoma?  What areas do you think the retinoblastoma research and support community should be addressing to improve the experience of parents, survivors and other affected family members? Please share your thoughts with a comment below.

2 replies
  1. Janice Woodbeck says:

    After being in this community for over 4 years with my daughter who has RB (Hereditary from Father) and hearing all the different terms in used with RB, less terms would be better initially. Unilateral, bilateral, trilateral, non-hereditary, hereditary, mosaic, sporadic etc. Especially in the beginning when you don’t know what end is up, all the different terms become too much for some and they can’t grasp what they mean. Non-hereditary and hereditary then sub groups would work better. People hear unilateral and assume once the cancer is gone, its gone forever which isn’t always the case. Also awareness in general, but the community as well is greatly needed as I hear all too often survivors having children, having them checked once and being clear, another appointment a year later and the eyes are filled with cancer. Survivorship follow-up is a key part of this journey!

    • Khai'dah says:

      As parents of a Retinoblastoma survivor (23 years), I realized that I had learned so much through personal experience and research that I wanted to find a way to use this personal knowledge. I wasn’t sure if my daughter was ready for me to share this information publicly, but once we created the blog, the day that I was ready to give it up, she said: “you can’t stop now, you’re helping so many people!” I wasn’t sure what to do next, but we decided to keep on pushing through it. There is new technology, the research helps increase the cure rates and the future is brighter. Our Retinoblastoma journey began before there were so many resources available on the internet. I’ve joined a few on-line groups, but I understand many families are not at that comfort level. I remember telling a friend, I didn’t realize how deep the pain was in our family until I stopped working and my daughter left for college (out-of-state). Yes, I believe we all suffered Post Traumatic Stress. I have flashbacks when I read about other children. An still I write… Wishing you all strength, patience & courage.


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