“What more can we ask for?”: an ethnographic study of challenges and possibilities for people living with haemophilia

In order to frame the study and provide important background knowledge about haemophilia and its history, the researchers conducted semi-structured interviews with haemophilia experts before undertaking the fieldwork. The experts included a specialist nurse at a paediatric haemophilia treatment centre (co-author NM), a practising psychologist working with PwH (co-author ATO), a physiotherapist, an anthropologist, and a medical psychologist working within the area of haemophilia. The insights obtained defined the research themes for the field guide used during the fieldwork.

Eight researchers trained in ethnographic methods (including co-authors TH, AML and ABL) conducted the fieldwork. Each researcher entered the field with the ‘field guide’, which included an interview guide, exercise instructions, and all other vital fieldwork information. This field guide, along with the real-time sharing of field notes online, allowed researchers to align and collaborate effectively as data were collected across many countries simultaneously ^[28].

Researchers recruited PwH through patient organisations in each country. The recruitment criteria aimed for a representative sample of PwH, screening candidates by haemophilia type, disease severity, treatment regimen, presence of inhibitors, and age range (under 12, 13–18, 19–49, 50+). The researchers also recruited HCPs in each country for a mix of experience levels as well as representation of larger and smaller clinics.

Researchers planned to spend one to two days with each person with haemophilia (and their families). PwH were typically met at their homes and the researchers followed their everyday lives by, for example, visiting their favourite local hangouts and planned activities, speaking with family members and friends, and often participating in common activities such as sharing a meal together. The time spent with PwH by the researchers also involved observing treatment administration, clinic visits, and HCP consultations when possible. Furthermore, researchers undertook on-site observations in haemophilia treatment centres, including interactions between PwH and HCPs. On average, the researcher spent 8–12 hours with individual PwH and their families and two to six hours with HCPs.

Researchers conducted semi-structured interviews ^[29] with PwH and HCPs that focused on key interest areas defined in an interview guide, while also allowing interviewers to tailor their questions to the interview context/situation, and to the people being interviewed. The interview guide focused on the following predefined research themes: risks and fears, aspirations and limitations, identity, mastery and adaptation, and trust. Each of the five themes were explored through four different lenses: haemophilia in the home, haemophilia in the world, haemophilia in time, and treatment and care. During the interview sessions, researchers also took PwH through a range of exercises, such as mapping their history with haemophilia, word association, and support network mapping.

The researchers used a multi-tiered grounded theory approach to analyse the collected data ^[30]. As part of a bottom-up qualitative research design ^[31], cross-case analysis, clustering exercises, and challenge mapping were employed to detect patterns in the data. The researchers first used cross-case analysis to detect larger patterns in the material, during which every case was analysed in comparison with the other cases collected. The researchers then conducted a clustering exercise, wherein patterns evident across empirical material were clustered, analysed and theorised upon in order to derive and record general themes and trends in the data. The research team also conducted a challenge mapping exercise to record the disease-related challenges identified for each respondent. These challenges were then grouped by category, as well as by respondent profile (i.e. age group, disease severity, treatment regimen, reported adherence level). Statistics presented in this article are based on self-assessment by the respondents or are based on an analysis of respondent behaviour and/or statements.

The study followed the ethical standards outlined by the ICC/ESOMAR International Code on Market, Opinion and Social Research and Data Analytics ^[32], which sets out global standards for self-regulation for researchers and data analysts, as well as relevant national standards for participating countries ^{[33,34,35,36]}. Respondents signed GDPR-compliant consent forms and all interviews were conducted by trained researchers.

Given the highly personal nature of the data collected in this study, respondent privacy and anonymity were of high priority. As guaranteed in the GDPR-compliant consent form that each PwH and HCP signed, the researchers handled each respondent's personal data with the utmost care. In order to identify the different participants, while preserving confidentiality, each respondent in the study has been given a unique identification number. Quotes and cases are labelled with the respondent number and the respondent's age range, e.g. Respondent 1 (teenager). All potentially identifying information from respondent cases has been omitted. (Quotations from interviews in Spanish, German, Italian have been translated to English by the fully fluent field researchers who conducted the interviews.)

The researchers met with 42 people with haemophilia A and nine people with haemophilia B aged between 1.5 and 82 years (Table 1). Interviews often included the wider social ecology of each PwH, including friends, family, and caregivers. The researchers also interviewed 18 HCPs from seven HTCs. The HCPs interviewed were haematologists (n=10), nurses (n=4), physiotherapists (n=2), a dentist (n=1), and a medical assistant (n=1).

Over 500 hours of interviews were collected and analysed for this study. A summary of PwH statistics based on these interviews are shown in Table 2. The main findings of this study pointed to four themes:

Perceived ‘normality’

The difficult history of haemophilia appeared ingrained in the collective memory of the haemophilia community. Several respondents described having heard daunting stories of the past from older relatives, or meeting older people with haemophilia and witnessing the effects of the challenges they have faced. One young man with haemophilia, Respondent 44 (20s), learned about the struggles of the older generations at a haemophilia patient society meeting:

‘I heard terrifying stories from the older fellas at the [meeting of the society] (...) The ’80s were scandalously bad.’

In the medical establishment, HCPs and pharmaceutical companies often refer to the years before treatment was widely available, or the HIV/HCV crisis. Patient organisations do the same, and in some countries still have the fight for justice regarding the HIV/HCV scandal as the focus of their efforts.

Many respondents appeared to consider their lives with haemophilia to be relatively burden-free compared to these difficult years in the past. Nearly half (48%) of PwH in the study described their lives as ‘normal’, yet researchers observed that they experienced frequent bleeds, pain, and multiple limitations causing them to hold back from leading the life they wanted to lead. To clarify, ‘normal’ is not used here to refer to a prescriptive definition of what constitutes a normatively correct way of living; rather, ‘normal life’ here is a term that researchers encountered in the field, used by respondents to refer to a life relatively unburdened by their disease. Respondent 28 (teenager), who was on crutches when interviewed, said he was leading a “normal life” and was not limited by his condition physically. However, when he recently had to run to catch a bus, he developed a major bleed leaving him on crutches. This perception of a ‘normal life’, i.e. the perception of one's life as relatively unburdened by haemophilia, was observed among nearly half of our respondents. However, it is important to note that some PwH with inhibitors, who either experienced increased treatment burden due to immune tolerance induction or shorter half-life medications, or who were failing to reach satisfactory factor levels, did not share this experience of perceived ‘normality’.

Researchers also observed how, for many respondents, the perception of and attempt to live a ‘normal life’ could have negative health consequences. For example, Respondent 6 (20s) described “just wanting to live a normal life” even though it has had major health consequences for him. He said that he prefers to have his condition “in the background” of his life, rather than at the front of his thoughts. He did not hold back from activities despite getting bleeds and he often forgot to take his treatment. As he said:

“for me, living with haemophilia means living a normal life and doing what I want – even if it means I had to put my foot in ice for a weekend.”

Despite the pervasive narrative of life for PwH being ‘normal’, nearly half (49%) of PwH in the study reported regular bleeds and/or joint pain, even with self-reported adherence to treatment, and 63% had experienced at least one bleed within the last year. In addition to bleeds and pain, researchers observed externally and self-imposed limitations experienced by PwH on a daily basis, with the most commonly reported challenge being limited activity levels (78%). Furthermore, 33% of the PwH in the study reported travel-related challenges. For example, Respondent 7 (50s), a middle-aged man, significantly limited his travels as his haemophilia meant that travel insurance was expensive, and he also feared not having access to good treatment abroad if something should happen.

Another common observation related to social exclusion. Respondent 25 (under 12) experienced being excluded in school from almost all activities by his teachers, and Respondent 23 (teenager) described how he had been rejected from enrolling into his local primary school some years previously when the personnel learned of his haemophilia. PwH also described limitations in career prospects. For example, Respondent 28 (teenager) described how he was restricted from applying for many types of jobs because he had been officially labelled as severely disabled. Respondent 16 (40s) described how he was not called to job interviews until he hid that he had haemophilia:

“Many people recommended me to disclose my status as severely disabled – when I didn’t, I was invited to interviews.”

PwH also described social isolation; for example, Respondent 31 (80s), an elderly participant, described having significant difficulties leaving his house because of bad joints, and as a result he often felt lonely.

Data from our study indicates that those who self-reported as non-adherent often also resisted identifying as a person with haemophilia. Of the nine respondents on prophylaxis who were often or sometimes non-adherent, eight (89%) described trying to ignore their disease, and two even described their non-adherence as a tool through which they could remain empowered in the face of their condition, not letting it define the way they lived their lives.

For the respondents, current approaches to treatment were often coupled with holding back from certain activities due to their condition. The majority of PwH in the study (78%) refrained from activities they would like to pursue, due to their disease. Respondent 34 (under 12) expressed a strong desire to play football like his friends, but was not allowed to by his mother due to his condition. Respondent 19 (20s) described having to “be more careful as a child” than other children and know the things he “shouldn't do”:

“I shouldn’t play football, handball, or do martial arts.”

The same pattern of self-restriction was also evident in his travel experiences: he refrained from undertaking longer travels, and his longest trips away from his home in Germany were to nearby countries.

On the other hand, some PwH would put themselves at risk by pursuing personal goals that went beyond those covered by their treatment regimen. Respondent 9 (30s) had decided to go against the advice from his physician by continuing to play hockey with his friends for over ten years, until he had to stop due to accelerating problems in his joints (ankle, knee and elbow). Despite having given up hockey, he still fought through the pain and accepted the consequences when playing with his daughter or when playing golf:

“You can’t live a life like that. Otherwise, you couldn’t do anything.”

There seemed to be a difference in priorities between HCPs and PwH in relation to treatment objectives. One Spanish haematologist described this tendency from his point of view, suggesting that PwH consider treatment success as being unburdened by their disease in their activities and relationships, whereas haematologists, in his experience, primarily considered success in technical terms such as minimising bleeds, avoiding inhibitor development and securing adherence to treatment. He explained:

“Our job is to seek the best treatment. Our role is a scientific role.”

Similarly, a German haematologist described that success, to him, was when a person with haemophilia has an annual bleed rate of zero and is coping well with administering and adhering to treatment, whereas he considered one to two bleeds per year to be “good enough”. This basic protection (i.e. lower bleed rate, successful administration of treatment and adherence), rather than the pursuit of activities and personal goals, was a common metric of success in our observations of treatment practices.

The majority of PwH in the study (78%) described entrusting their HCP with key treatment-related decisions. According to our data, HCPs carried a lot of weight for providing PwH with information about their condition, even going so far as to give patients their private phone numbers and urging them to reach out whenever they had questions. In addition to information from their HCPs, PwH in our study also looked to an average of 2.61 other sources for information. Forty per cent of PwH described looking to family, patient organisations and summer camps as sources of information about treatment. Several HCPs felt that PwH were often being misinformed outside of the clinic. Overall, all PwH highlighted their HCPs as their main source of information in relation to haemophilia treatment.

Despite these typically close relationships with HCPs and the use of additional sources of information, over half of the PwH in the study (52%) found it difficult to translate the information provided by HCPs into an understanding of what activities were appropriate in everyday life based on their level of protection. Rather, researchers found that many PwH ended up creating their own mental models and adaptations around protection. When these beliefs around protection were inaccurate, PwH described engaging in risky behaviour or being overly cautious in terms of activities, treatment practices and protection levels.

One example of how the understanding of protection levels by PwH could potentially be unsafe according to established clinical knowledge was described by Respondent 7 (50+), a middle-aged participant. His approach to protection was reactive rather than preventive: for him, protection was not about prevention of bleeds, but about immediate treatment after the fact. He was convinced that the key to avoiding serious bleeds was not regular prophylaxis, but rather immediate injections after a trauma had occurred. This meant that he would often perform activities, such as gardening, in daily life with very low protection levels. Even though this had led to bleeds in the past, he felt safe and did not hold back, instead thinking that if he felt a bleed coming on he could simply treat after the fact.

On the contrary, researchers observed in the families of Respondents 40 and 41 (both under 12) how a mental model of protection could lead to overly cautious behaviour. The boys had recently transitioned from standard half-life to extended half-life treatments, but the parents still did not consider them to be more protected on non-treatment days. Even though the parents were told by their HCPs that the boys’ new treatment would have a longer half-life, they still thought of all factor products as providing the same protection. This meant that the parents did not want the boys to play any sports on these days and actively encouraged them to play video games instead. Due to this model of protection, the boys’ exposure to social occasions was severely limited.

The PwH in our study faced specific challenges depending on their life-stage, without necessarily receiving care tailored to each stage. Our research identified four distinct phases that carry different challenges and anxieties to both people living with haemophilia and their caregivers (Figure 1).

Figure 1

In the first phase, where the child with haemophilia was in the age range of 0–12 years old, most children lacked a developed embodied sense of their disease (i.e. difficulty assessing their limitations). Most caregivers described being focused on keeping the child safe and becoming accustomed to treatment administration as the main challenges, as well as feeling alone and lacking the necessary support that caring for a young child with haemophilia demands. Many parents described their greatest dilemma as being how to let their children test boundaries – to explore, fall and learn – while preserving their safety. The mother of Respondent 24 (under 12), a young boy, said:

“There is always a conflict between being protective and letting him grow.”

The mother of Respondent 15 (under 12) said that only the sandbox was safe for her boy to play in – with everything else she was constantly worried.

In the second phase of challenges, the teenage years (13–19), PwH had often, but not always, learned to self-inject, and for that reason often described a lower treatment burden. For most teenage PwH, the challenge then was to fit in and not “feel like dust in the corner,” as Respondent 23 (teenager) described feeling when he was not able to do the same things as his friends in school. However, many teenagers in the study also rebelled against the limitations set by their condition by stretching their own limits. Respondent 2 (teenager) said:

“I know I need to keep my treatment up, I know what can happen, but sometimes I still wait an extra day.”

In the third phase, PwH aged 20–49 years, typically understood their (self-determined) limits and had settled into a certain lifestyle, which freed up mind space for other questions. In this phase, PwH tended to focus on building a career and a family, fighting through the pain to be able to live with ambition. In the family of Respondent 10 (30s), the daughter said:

“Haemophilia is boring. Daddy can’t do things.”

In situations like this, treatment often fell into the background. As the father with haemophilia in this family said:

“I guess I’m kind of blasé about my condition. It's about getting on with your life.”

For most, anxieties around treatment and activities were at a low, but anxieties around joint problems were often beginning to emerge. In this group of participants, joint problems had progressed from an abstract concern to a present, tangible problem.

In the fourth phase, researchers observed that PwH over 50 years of age in the study tried to embrace hobbies, but physical limitations and treatment problems often re-emerged, and joint problems became more all-encompassing. In most of the older PwH, the biggest challenge seemed to be staying mobile and finding ways to be able to do the things they wanted within the physical constraints of damaged joints from a life with haemophilia. Many experienced having to make trade-offs between being in pain and staying mobile, and it was challenging to stay active. For many, treatment had become difficult again due to joint problems or failing eyesight. Most elderly PwH had to face these problems on their own as there were so few before them that had reached an elderly age, as Respondent 31 (80s), an elderly man, said:

“‘There is no one to learn from when it comes to ageing with haemophilia – you are left to figuring things out for yourself.”