Living with heritable retinoblastoma and the perceived role of regular follow-up at a retinoblastoma survivorship clinic: ‘That is exactly what I have been missing’

Study design

An explorative, qualitative study design was undertaken to obtain in-depth insights into the lived experience of RB survivors and the perceived role of an RB survivorship clinic.

Study setting

All Danish citizens have free access to medical care, and RB management has been centralised in one national RB unit in Aarhus since 1963. In 2016, regular ophthalmological follow-up throughout childhood and for many into adulthood, was extended by establishing an RB Survivorship Clinic. All heritable RB survivors who have completed acute treatment of their primary disease are eligible to attend this service.

The RB Survivorship Clinic is a multidisciplinary clinic primarily comprising ophthalmologists, geneticists and oncologists and is conducted in a hospital setting. The primary coordinating clinician is a clinical geneticist with experience with rare genetic conditions and cancer predispositions syndromes in children and adults. For the majority of the RB survivors attending the RB Survivorship Clinic, a yearly outpatient consultation is planned with a focus on physical and psychological problems, continuous information/education on optimal health behaviour, as well as anticipatory genetic counselling as required. Yearly examinations by a dermatologist is instituted, and referral to additional specialists or imaging is initiated where indicated (eg, mammography). The survivors can access the clinic coordinator in between their regular visits as required via mail, telephone or an additional visit to the outpatient clinic.

Sampling and recruitment

Patients above the age of 18 years, diagnosed with heritable RB who attended the RB Survivorship Clinic, Aarhus University Hospital between 1 June 2019 and 1 June 2020, were consecutively invited to participate in the study. Written and verbal information about the study was provided by the first author (PAG), a senior consultant clinical geneticist at the RB Survivorship Clinic. Of the 11 patients approached, 10 provided consent to participate and a time and date for the interview was arranged.

Data collection

The interviews were based on a semistructured interview guide that was informed by scientific literature and by the interdisciplinary expert knowledge of the authors (from fields of genetics, ophthalmology, anthropology). An RB survivor provided feedback on the draft interview guide and volunteered to participate in a pilot interview. Interview questions were revised for clarity and meaning (table 1). Relevant demographic questions were added to the guide (table 2). All individual interviews were conducted by the last author, SL (senior anthropologist, PhD) who has extensive experience in conducting patient perspective interviews. SL is not associated with the RB Survivorship Clinic, allowing participants the opportunity to express potentially negative issues relating to their experience with the clinic.

By participant choice, the interviews were conducted by telephone (n=6), videoconference (n=3) or face to face (n=1). On average, the interviews lasted 53 min (range 38–75 min). During the interviews, participants were encouraged to speak freely about their experiences and to include any topic they found relevant to the issue. All interviews were audiorecorded, transcribed verbatim and deidentified prior to analysis. Transcripts were not returned to participants for comments/correction. During data collection, the preliminary findings and potential interpretations were continuously discussed among the authors. Data collection ceased when the first and last author assessed that the data were rich and adequate, and thus, had sufficient 'information power'21 to provide for an analysis.

Demographic information was collected by a combination of self-report (completing demographic questions in interview) and collection from the participant’s medical records.

Data analysis

The data were thematically analysed.22 Following initial data familiarisation, a coding framework was developed using a combination of deductive and inductive codes. To illustrate, the deductive codes were drawn from topics in the interview guide and included codes such as ‘patient support groups’ or ‘level of visual impairment’. Inductive codes were issues that emerged from the data and included codes such as ‘I’m normal’ or ‘fear of death’. A test coding of two selected interviews by two researchers (PAG and SL) was independently undertaken to ensure consistent coding, and the material was then coded by PAG using NVivo V.12 qualitative data analysis software (QSR International, V.12, 2020). The coded material was read and compared and codes were collated into preliminary clusters of meaning (themes and subthemes) in Danish, which were then discussed by the broader research team. No significant changes to the analysis were necessary.

The quotes as reported here have been translated from Danish to English, reviewed by both native Danish and English-speaking research team members to ensure the meaning was not lost in translation. Additional information about the translation process is available in online supplemental material. To support participants’ anonymity, no additional personal, medical or demographic information is provided for each quote.

Reflexivity

Throughout the research process, the authors were reflexive about how their positions and preconceptions could influence the research. With the exception of SL and MHO, all authors see patients with RB and survivors, or are involved in RB management in their respective clinical specialties, and we acknowledge that they all share a strong motivation to improve services to RB survivors. However, the interdisciplinary discussions in the research team (consisting of professionals from genetics, ophthalmology, anthropology, oncology and public health) served to challenge and make visible potential biases in the study, for example, preconceptions about RB survivors needs and concerns.

Patient involvement

This study was led by a cross-disciplinary and international research group with substantial knowledge about RB survivors. An adult RB survivor was engaged in developing the patient information sheet and the interview guide. During the research process, SL encouraged the participants to provide feedback on the interviews and the researchers’ preliminary interpretations. All interested participants will be provided with the overall study results and an opportunity to discuss them with the research team.

A life with vision impairment

Vision impairment was the major concern following RB as emphasised by all participants, although their degree of reduced vision varied by severity as well as type of impairment (table 2). Several participants experienced deterioration of vision over time, due to treatment-related complications (ocular surface problems, cataract, etc) or age-related effects on vision (presbyopia):

I always have it in the back of my mind, when will it decline? I didn't worry earlier in my life, because my vision was relatively stable. But I fear that this is the first step downhill. I am only in my 30s, and hopefully I will have a long life, so I hope my vision is not absolutely miserable in my 40s. (P08)

Vision impairment affected daily activities. The participants did not describe practical chores such as maintaining their ocular prothesis, the daily use of eye-drops and the use of glasses and contact lenses as a significant problem, but still a time-consuming, laborious task influencing everyday life. In addition to these practicalities, vision impairment sometimes meant that everyday activities such as pouring water or lighting a candle could be challenging. Participants with no vision in one eye described how the decreased field of vision could lead to reduced awareness of their surroundings, and at times led to collisions with objects or people:

I accept that my field of vision is reduced compared to others, and that just means that I still walk into the door frame sometimes, or into people standing on my wrong side. (P04)

However, despite vision impairment and related practical challenges, all participants reported an overall normal life:

We can still do most of the things we want in everyday life with the exception of watching 3D movies and stuff like that (laughing). (P03)

Regarding education and work life, only one person reported that the reduced vision directly influenced her choice of vocation. Several did mention, on a more hypothetical level, that some professions where unattainable due to their vision impairment:

A part of me would like to be part of the helicopter team, evacuating patients; but from what I have read, it’s not super smart to be partly blind in one eye. (P05)

Even among participants who seemed very successful and fulfilled in their everyday lives, (two were elite-level athletes), regret was expressed related to not being able to exploit their full potential:

Imagine, if I could see with both my eyes. I mean, I think I am pretty good at many things, and I thought: imagine, if I was not hindered by this? (P01)

Navigating social life

The majority of the participants described how RB indirectly impacted their social life. Some participants’ prosthetic eye was the only ‘clue’ to their visual impairment while others described how the RB treatment (eg, radiation) had significantly impacted their physical appearance. The majority of participants reported none or only ‘normal’ bullying during childhood, but two participants experienced massive bullying, with social and emotional consequences following them into adulthood:

Today, I guess I am what you would call socially handicapped. I do not trust people because I have experienced that people attack me, degrade me and become personal. (P05)

As adults, some participants were very conscious of how strangers might respond to their physical appearance. They described how children and adults would stare at them or whisper behind their back in public places, and how they sometimes felt the need to confront this behaviour or wished that people would just ask about it. Some expressed concern with being judged by their physical appearance instead of their personality (eg, when going on dates or for job interviews), and a few described trying to hide their prosthetic eye with their hairstyle or by only photographing from certain angles:

When I was younger, I tried to cover half of my face with my hair. I still have that habit if I am among many people. (P02)

In addition to the social impact of their physical facial features, many participants reported how they also tried to hide, or compensate for, their reduced vision when participating in social engagements:

When I am invited to dinner, I quickly find the corner of the table that is best for me in terms of my vision. I prefer not to have an unknown person on my right side because it reduces my social interaction because I miss a lot on that side. The person might pass me the dish, and I do not see it. (P04)

However, the participants also frequently expressed that they did not want ‘special treatment’ or to take up unnecessary social attention, or to draw any additional attention, compassion or special considerations. For all participants, it was important that their RB-related challenges did not overshadow social relationships and situations.

Being an RB survivor could sometimes impact social relations, as many people respond emotionally when being confronted with childhood cancer:

One thing I have become better at is telling others about ‘the cancer story’. It is like an art, because if you just say: ‘I had cancer,’ people are ‘Oh no, are you dying… ‘So, it is a balancing act. (P01)

By constructing a ‘cancer story’ and being careful how, when, and to whom they revealed the vision impairment and/or the cause of it, the participants kept the RB diagnosis from taking centre stage in their lives:

It is part of who I am, but it is not my personality. (P01)

Interestingly, the participants did not interact with other RB survivors (beyond their family). Patient support groups were not in high demand and while several commented on the benefits of such support for parents of children with RB, the majority argued that they did not identify with the condition and did not want it to be an issue in their lives:

I have tried to hide it. I will not call it a trauma, but it is after all a burden from my childhood, I do not wish to relate to, if I do not have to. (P04)

It runs in the family

The genetic nature of the condition was reported as playing a very important role for the majority of the participants: often many family members were affected, some had affected children and/or concerns about the risk for future children. As such, the possibility, responsibility or burden to make active decisions regarding a heritable family condition was a central concern in their lives:

Since my childhood, it was always stressed, how I could stop this condition in my family. (P10)

All participants reported that they did not wish for their children to inherit RB:

I have always known for sure that I would not pass this on, no matter what. I would almost rather avoid having children than risk having a child with this disease. (P08)

As many of the participants reported living fulfilling lives, we enquired further about this wish to avoid RB in future children:

With this, I can do something. I might not be able to prevent that my kids are bullied, get sick, need treatment. They can get all sorts of other things, that I can’t do anything about. However, I can do something about this. (P05)

Reflections on the lifelong consequences of RB despite a normal life was expressed:

Specifically this higher risk of becoming sick again, that this is not just an eye disease. It is not just treatment for that disease. The fact that this follows you for the rest of your life. (P07)

Of the seven participants who had children, three had not had the opportunity for prenatal testing and of these, two now had children with RB:

I would give my right hand for this not to have been the case… but my reasonable thought is after all, that I can’t help it. (P04)

Four had had preimplantation genetic testing or prenatal diagnostic testing in order to avoid passing on the condition. However, this decision was not easy as undergoing fertility treatment or waiting for a prenatal diagnosis caused considerable stress and some participants expressed feeling guilty for putting their partner though this process, because of their own genetic ‘flaws’.

Managing the second cancer risk

All participants were aware of the increased risk of developing second primary cancers; half had known about it since childhood or adolescence, and the rest were informed as adults. Hence, for some participants, this had always been a circumstance in their life:

I recall it, as I have almost always known it. My parents have always been very up front about telling me these things, and so have the doctors. (P01)

Despite generally not being worried about this increased risk, several stated that they paid extra attention to sun protection, had their skin checked regularly, and in general aimed for a balanced, healthy lifestyle:

We are told, you have to avoid sun burn because it increases your risk for skin cancer etc., but for me that’s not so special—it belongs to the general mantra: live healthy. (P08)

Talking about the potential psychological impact of knowing about the risk, the vast majority said that they preferred knowing about it, in order to be able to be proactive and prepared:

I’d rather look at the monster up front instead of being beaten by it. (P04)

However, they also recognised how this knowledge could cause worry and anxiety:

My wife is extremely worried on my behalf, and of course that reminds me about it. But it does not ‘ride me like a mare’, not at all. It is not something I walk around and worry about. (P10)

While the majority was not particularly worried, for some families, the risk of second cancer was more present:

Looking back, my mother had retinoblastoma, skin cancer, malignant melanoma and breast cancer, i.e., she was hit four times. That is not a nice knowledge to have. (P05)

This knowledge, however, had not caused the participant to live differently. Many participants emphasised how the precautionary measures they took were not different from what other people should do:

We all have to die at some point, and I do have—no matter I had cancer or not—a healthy lifestyle. I like to do exercise and do not live on McDonald’s. To me, that’s not because I had cancer, I live healthy. It’s just because I have to. (P08)

Being an RB survivor in the healthcare system

Many participants described a lifelong connection with the specialist-RB ophthalmologist at the hospital. With only one specialist unit in Denmark, most participants had made annual visits to the RB eye clinic throughout their childhood. As adults, the participants described a high level of satisfaction with the RB eye team, and specifically described how they appreciated and valued the continuous, direct access to this specialised care.

What I particularly appreciate is going directly through the eye department for further treatment, instead of having to go through some random, generic eye doctor first. (P08)

This underlined the struggles and frustrations that participants had experienced when seen by an eye doctor who lacked specific knowledge about RB and the long term or late effects of treatment:

The non-specialized eye doctors take one look at me and find all kinds of deathly conditions, because there is nothing [in my eye] that looks the way it should. (P05)

The need for better psychosocial support as part of the follow-up RB treatment at the eye department was mentioned:

They are eye specialists. There is very little focus on the psychological consequences following treatment or living with this condition. (P10)

As described above, none of the participants were engaged in patient networks or online RB support groups. Thus, many had felt alone with the questions and concerns related to being an RB survivor.

The value of the RB Survivorship Clinic

Future studies and implications