Community perspectives on the magnitude of Xeroderma pigmentosum and care-seeking practices in Micheweni district, Pemba: a mixed-methods cross-sectional study

Study design and setting

A cross-sectional study employing concurrent mixed-methods design (quantitative and qualitative) was conducted in January 2020, at Micheweni district, Pemba region. Micheweni is located in the Northern part of Pemba Island, Zanzibar.20 The district covers an area of 231.1 km². According to the 2012 census, the district had a total population of 103 816.21 The district was selected as it was perceived to have a high prevalence of XP.

Study population, sampling and sample size determination

Participants included community members, comprising males and females, adults and youths, traditional leaders, traditional healers, religious leaders, influential people and healthcare providers.

A multistage sampling strategy was used to select study areas and participants. Micheweni district in Pemba, Zanzibar was purposively selected. The district is composed of eight Shehias (ie, wards) of which five were purposively selected based on the presence of patients with XP. The shehias included Chamboni, Mjini Wingwi, Sizini, Majenzi and Chimba. For the quantitative part, a simple random sampling technique was used to select the required number of households whereby the head of the households was targeted. The sample size for household survey was obtained using the formula for calculating sample sizes for cross-sectional surveys.22 Considering a 17.5% awareness level of rare diseases among community members, at a 95% confidence level and a margin of error of 5%, the minimum sample size obtained was 222. The selected households were split across the selected shehias using weights based on the population size. For the qualitative part, purposive sampling was used to select participants for the focus group discussion (FGD) and in-depth interview (IDI).

Recruitment of study participants and data collection

Focus group discussions

A total of four FGDs were conducted to adult community members in Chimba, Sizini, Chamboni and Mjini Wingwi shehias comprising two males and two females groups. Discussions for males and females were held separately to enhance freedom of expression. Using an FGD guide, the discussions explored the community awareness of XP, perceived causes and symptoms, and actions taken. Two additional FGDs were held with community leaders in Sizini and Mjini Wingwi shehias to get overall reflections on the existence of XP in their communities.

Case studies

A total of 12 households were reported to have patients with XP. However, under clinical examination, only four households had patients with XP, the rest were other skin diseases that had symptoms perceived by community members to be XP. Out of four households, three caretakers of children suffering from XP disease (XPD) were interviewed. One caretaker declined to be interviewed because her husband was not around to provide her a permission to participate in the study. The interviews aimed at gathering a deeper understanding and documenting their experiences regarding XP, the root causes of such conditions and what they think might have amplified the risk. They were also asked about their experience on the impacts associated with XPD at individuals, family as well as community at large; care-seeking practices and reasons for such practices, barriers and facilitators including any associated beliefs.

In-depth interviews

A total of 20 IDIs were conducted with 3 healthcare providers from Micheweni district hospital and Kinyasini health centre, 5 influential people, 8 community health volunteers and elders and 4 traditional healers. The aim was to get the general understanding of the XPD in families and document any contextual factors associated with such conditions.

Data management and analysis

Quantitative data were entered in Epidata V.3.1 software. The data were then exported to STATA for cleaning and analysis. The findings were presented in frequency and proportions. χ² test was calculated to assess the difference in awareness of XPD across sociodemographic characteristics of interest and a p value ≤0.05 was considered significant. Qualitative interviews were audio-recorded with the permission from the study participants. They were later transcribed verbatim. The transcripts were reviewed in line with the audios to confirm the correctness of transcriptions. Coding framework was thereafter developed following the main themes predetermined in the data collection guide. Data were coded in the excel spread sheets, making it easy to observe the pattern, similarities and differences across and among levels of study participants on issues pertaining to the burden and community awareness of XP.

Patient and public involvement

None.

Demographic characteristics of participants

A total of 211 household heads out of 223 were interviewed making a 94.6% response rate. Of these participants, 54.5% (n=115) were female. The mean (±SD) age of the respondents was 44.03 (±16.19) years. Most of the respondents, 83.4% (n=176), were married. Half, 51.7% (n=109), had no formal education. Only 11.9% (n=25) completed secondary school education (table 1). The findings from a total of 23 IDIs and six FGDs complemented the quantitative results.

The magnitude of XP

According to record reviews, 17 cases with XP were recorded in 3 years, of which 10 were males and 7 were females. Out of 17, only 10 patients aged 1–12 years were alive at the time of survey. Out of seven, six children died before their 10th birthday. Four children, who were still alive, were at the advanced stage of the disease as the clinical presentation showed clear evidence of carcinomatous changes consistent with melanoma as well as squamous cell. Healthcare services for these patients were sought from different health facilities in Zanzibar and Tanzania mainland.

In the household survey, respondents were asked to list the top 10 diseases affecting their area. Only 17 (6.14%) of the respondents mentioned XP to be among the top 10 diseases in their community and majority were from Chamboni and Chimba shehias. A similar pattern was observed in the qualitative findings where FGD and IDI participants reported to have observed XP disease in some families in their respective areas as narrated below:

The problem is huge in our area. In this village I think there are two families with this problem but for Micheweni district as a whole the disease increases progressively yearly. When it started, we were very few but now there are almost 20 people with the disease and the main affected areas include Chimba, Kinoe, Sizini and Micheweni. Children are much affected. For example, when a child approaches seven months he/she starts developing symptoms. My own four children (three males, one female) got infected with the disease of whom two have already died. The first and the second one started developing symptoms when they had seven and nine months respectively, and they died at nine and eight years respectively (Case study, Care taker, Chimba)

Community members raised a concern that some families could have a new child born safely and healthy, but as the time progressed, he/she can start developing the XP symptoms. Here is the narration from one of the caretakers, aged 40 years with no formal education:

In 2007, my fourth child developed this illness [XP]. I am struggling with her moving from one hospital to another seeking treatment. I have also visited the Muhimbili [National] Hospital in Dar es Salaam on 15.11.2019. Recently, I went again for clinic appointment but as a care taker, I haven’t seen any relief. In 2009, I gave birth to another child who developed a similar condition. I gave birth to another child in 2009, and this one again had a similar problem. Out of my four children, three suffer from this illness. In this neighbourhood [Majenzi], for instance, there are 12 patients from three families, whose ages vary from 6 months to 15 years, all of them have children with the same condition (IDI, Caretaker, Majenzi)

Some parents complained to have lost their children who were suffering from XP disease, and this has made them develop deep-rooted fear:

I have four children in my area having this disease of whom two have already dead (FGD, community leaders, Sizini)

The prevalence of XP was substantiated by other community members, influential people and leaders and was observed in three main areas of Sizini-Mtondooni, Sizini-Chanjaa and Sizini-Vunja Mifupa. They further said that the disease is increasing among children aged 6 months and above. Here are some of the testimonies:

Because we provide services to the community, I have observed this disease here. The disease is becoming worse every day. Chamboni is the most severely impacted area. Children aged three years old and above suffer more. I know five families with such a skin disease problem (Community health volunteer, Majenzi)

The prominent clinician who was entrusted with helping patients with XP declared the existence of the disease since immemorial:

Since I began working, there has been an issue with XP, but it has significantly diminished now—many people have even passed away. Children between the ages of one and five are impacted, and Micheweni is one of the areas severely affected (IDI, Healthcare provider, Kinyasini health centre)

Awareness and knowledge on XP and its related symptoms and causes

Nearly half of 211 survey individuals (48%) reported to be aware of the existence of the XP disease in their community. There was a significantly higher proportion of respondents from Chamboni who were aware of the XP disease than in Chimba, Majenzi, Mjini Wingwi and Sizini (p=0.002) (table 2). Further, unawareness was more prevalent among males and those without formal education.

Out of 101 participants who reported to be aware of the disease, 38.6% of them considered it as a problem in their community. Two-thirds, 70% (n=71), of the respondents reported knowing at least one person affected by the disease. Moreover, 18.8% (n=19) of 101 respondents reported a family member being affected by the disease, with eight (42.1%) reported one family member, six (30.4%) reported two family members and four reported at least three family members have been affected by the disease.

All of those who understood and mentioned XP said that children are more affected than any other group ranging from 7 months to 9 years, although those aged 2–6 years were the most prevalent category.

Further, enquiry on the presentation of the disease, dry skin with pigmentation was the most common symptom mentioned by 78.2% of 101 respondents. About a fifth (17.8%) of the respondents identified rashes as a symptom related to XP. The rest 4.0% did not know the symptoms.

The analysis of medical records shows that every patient experienced pigmentary changes over their skin, including diffuse erythema and some scaling that was more severe over portions of their skin that were exposed to sunlight, such as their head, neck, upper limbs and lower limbs. In clinical examination, all patients had their skin that looked older than their respective ages. Some of them had telangiectasias with mottled hyperpigmentation as well as hypopigmentation skin. All of them had photophobia as well as extensive visual defects.

The qualitative findings showed that while a significant portion of study participants was aware of XP, majority of community members were unable to distinguish it from other skin conditions. The quotes below testify:

It is a skin condition that causes patches and discoloration of the skin. My two children experienced the same issue, therefore it was not unique to my family. The first child’s hands became so patchy that he was unable to function at all. I referred him to the physician at Kinyasini who had previously treated leprosy patients. After receiving some medication, my child recovered. The same doctor treated both of them when they were cured; the first one had this ailment at age thirty, and the second one at age twenty-five (Influential people, Mjini Wingwi)

Patients were recommended to stay out of direct sunlight. Study participants, who had a child with such disorder, claimed that sun exposure made their XP condition worse. The caregivers noted changes in the skin, including patches, locally known as ‘vidoti mwilini’, blurred vision and colour changes in the eyes. The quotation from caregivers and FGD participants below mentions other symptoms.

Poor eyesight, abnormal rashes that are accompanied by itching, change of skin colouration to white [skin pigmentation], difficulty in seeing (FGD participant)

Even though the majority of study participants thought XP primarily to have affected children, participants in FGDs linked some symptoms of other skin conditions to allergens. For instance, itchiness and spots in various body areas were noted in adults as well as in other age groups. The participants claimed that this conundrum, which indicates the prevalence of other skin conditions with comparable symptoms, caused uncertainty when talking about XP. The research team’s medical specialists verified this confusion, since they discovered that eight cases that were identified during face-to-face consultations and FGDs were actually different skin conditions rather than XP.

Knowledge on the causes of XP

Only 5.9% respondents identified XP as a hereditary disease. Over half of participants did not know what causes XP. The rest identified environmental pollution, infections and witchcraft as the cause of XP (figure 1).

Figure 1

Knowledge on causes of XP disease. XP, Xeroderma pigmentosum.

Majority of the participants of qualitative study also did not know the causes of XPD and their viewpoints on the causes of XP echoed quantitative findings. Influential and religious leaders mentioned some of the causes linking them with a variety of food, non-conforming sexual intercourse practices based on religious and cultural beliefs, dirt environment and inheritance, while traditional healers associated it with evil spirits (table 3).

According to the religious beliefs [Islamic] the scripture says that in each sexual episode partners should clean their parts before continuing to the next episode. Failure to do so results in the eruption of diseases (IDI, religious leader, Sizini)

Marriage to close relatives in terms of bloodline was also mentioned as one of the causes and fuelling factors for XP. For those who could not mention the cause they said, it is the ‘God’s will’. A good number of the study participants linked cultural beliefs to XP occurrence, more specifically to the misunderstanding between the families that was believed to awaken the spirits ‘mizimu’:

Misunderstanding in families causes this disease because their spirits [mizimu] remain in the state of not understanding each other and once this happens this disease [XP] erupts. The mother is the main cause most of the time [i.e. responsible for XP] as there might be some misunderstanding between spirits they have their families and those where they have gone to get married (Traditional healer, Sizini)

In addition, family curse was also described as the other cause of XP and the following quote shows how this cultural belief linked with community stigma to the family with XP patient :

Those family (family with XP patient) are cursed, they must have been doing something to get those punishment and that is why we don’t get close to them and we don’t want to be cursed as them (FGD—Male, Chimba)

Community members and traditional healers mentioned witchcraft and supernatural beliefs as major contributing causes while healthcare providers declared to have no knowledge on the causes apart from inheritance, dirt environment and food types. Participants in the study highlighted that XP was said to be exacerbated by some community members’ abandonment of certain cultural and religious activities.

Stop in practising the rituals in Pemba is the cause for XP. If these rituals for example, ‘DUA-prayers’ are done all the diseases are banished to the sea but if we will not perform them according to our Lord, we will get diseases (IDI, traditional healer, Sizini)

Witchcraft beliefs are responsible for this disease [XP]. Also, if people neglect obeying religious beliefs by engaging in sexual intercourse without praying, they end up getting punished. There are many religious scriptures such as partners to cover themselves with bedsheets when performing sexual intercourse, etc. (FGD—female, Chimba)

Participants in FGDs with leaders, community members and IDI with community health workers mentioned lack of health education as the reason behind their little awareness and knowledge on XP disease. This was clearly mentioned by most of the people in Pemba who declared to have no idea about what XP is, how it is caused and how to prevent it from happening in future. The FGD participants said that lack of education on XP has made most people ending up with predictions on the causes of the ailment and seek treatment based on their local knowledge.

We have never received education on this disease [XP]. Even the government has not provided education to us on this disease (FGD—female, Chimba)

In addition, another participant said:

We are only aware of this disease as a skin disease, but we don’t understand the cause or how to prevent it, many people among us still wonder the rareness of this disease (FGD—Female, Chimba)

Poverty was mentioned by health workers as a factor fuelling the severity of the disease and sufferings to the patents.

Knowledge on transmission of XP

Only one out of the 101 respondents, indicated that XP was a hereditary disease. Others, 26.7% (n=27) believed that XP could be transmitted from one person to another whereas 37.6% were non-affirmative and 35.6% did not know how the disease is acquired. Of 27 participants who said that XP could be transmitted from one person to another, 66.7% of them mentioned through body contacts and 29.6% indicated sharing of clothes.

In the qualitative findings, although several factors attributing to XP were mentioned, most of the participants in FGDs and IDIs were unable to link these causal factors to the transmission, instead, they ended up guessing based on their knowledge and experience in their localities. They mentioned inter-marriages among relatives, inheritance, sharing of clothes of the infected children, sleeping or getting into close contact with the patient and eating without washing hands as risky practices for transmitting XP;

Body contact, sexual intercourse, intermarriages or sitting together with an infected person you can get infected with XP. When the disease enters one of the children in the family then all children in that family will get infected (IDI, influential person)

However, one of the community health volunteers and FGD participants thought that the disease is not infectious as children do play together and sometimes sleep together and no one gets infected.

Attitude of community members towards people with XP and its effects

In the quantitative survey, 96.0% of 101 respondents perceived patients with XP as any other patients of which 80.2% declared that they could sit closer to patients with XP. The findings are in line with most of the FGD participants, and IDIs with leaders and healthcare providers. Contrary, all XP caretakers revealed the existence of stigma towards such patients and their respective families. Participants reported discrimination of the families with patients with XP such that at some points they are excluded from participating in various activities in their respective communities. Families with no patients with XP were reported fearing getting into contact with those with patients. One of the religious leaders declared to have observed such practice when children attend religious teaching where they would sit far from those with XP. This practice has made the families with the ‘sick’ to feel uncomfortable due to the continued discrimination.

Discrimination for families with XP patients exist in this community. For example, in the Muslim schools ‘madrassa’ parents do instruct their children not to sit closer to the affected kids (IDI, influential person, Sizini)

Some of the people use harsh language to the families with XPe. Others call the patients bad words such as ‘vidondavidonda (caretaker case study, Sizini)

Participants in the qualitative interviews emphasised that, in addition to the disease’s effects on all facets of life, the mother, who is responsible for providing care for her ill children, is the one who is most affected. Families affected also were at risk for their children to not get married. In figure 2, additional effects of XP at the individual, family, community and institutional levels are summarised.

Figure 2

Views of informants of qualitative interviews on the effects of XPD. XPD, Xeroderma pigmentosum disease.

Healthcare-seeking behaviour

Out of 101 respondents, only 47.5% believed that XP could be treated by hospital medication of which 89.5% declared that they would seek care in health facilities if a family member was affected by XP. However, when participants were asked about the first action community members would take in case there is a suspected patient, drug store consultation was mentioned by the majority (81.2%) while few (17.8%) mentioned traditional healers. Contrary, qualitative findings have indicated traditional treatment as the most common actions taken once any community member suspects their children to have XP symptoms.

Consultation with traditional healers to us is considered as the first aid as they are closer to us and we have a big trust in them that they can help us. It is also our tradition from immemorial. Someone might lack some money to cover for the health facilities services, but traditional healers can provide services to you even when you don’t have money with the promise that you will pay later. What is more, skin diseases such as ‘mapwepwe’ are better managed by the traditional healers (participant, FGD, male, Majenzi)

It was widely believed that the primary factor influencing the decision to seek care was beliefs related to the presenting symptoms. Certain families would first seek advice from health facilities, while others would begin with traditional treatment or contact pharmacies. A few families would simultaneously use traditional and western medications.

Other people do consult traditional healers or use natural remedies. Others may opt starting at the health facilities depending on how the disease appears. For example, my -in-law, went to buy the coconut and found a cat sitting on top of it. The implication is that after using it she gave birth to a baby with a skin disease [XP] where she straight consulted the traditional healers. From the first child to the third one all got the same disease… (FGD—female, Chimba)

There are some patients who come straight to me while others opt to start visiting the health facilities and would only consult me in case there is no any relief from the health facilities (IDI, Traditional healer, Mjini Wingwi)

Because most study participants believed that some XP symptoms resembled those of leprosy, physicians who were well-known for treating leprosy in the past were sought out more frequently for XP cases. Caretakers also reported some relief from XP symptoms after taking recommended medications. The majority of research participants stated that the absence of specialists in skin diseases has made the XP issue worse since patients and their families are unable to receive appropriate medical care. Nonetheless, they recognised the assistance given to address the symptoms, including medication to lessen body pains and itching;

They[patients] do receive services but the problem is that we don’t get solutions to this problem, we work with care providers and different partners but I still find that it does not help me much (care taker, case study, Chimba)

Some of the care providers were reported visiting families with patients to attend wounds and solve any emerging complication in terms of advice. Caretakers requested for specialised doctors on XP to be available in the surrounding health facilities.

Knowledge on prevention of XP

Out of 101 respondents, 28.7% agreed that XP can be prevented whereas 37.6% did not agree and the rest (33.7%) did not know. For those who said the disease was preventable, they mentioned various methods for the prevention, such as avoiding body contact and sharing of clothes, food, utensils, etc. Views of the participants stemming from qualitative interviews were mainly recommendations to various actors on actions for preventing the disease. They recommended for the Government to provide education on XP as most community members lacked it:

Patients should be assisted by professionals to give them hope. Ministry of health officials should meet the families with patients to direct them on how to handle the XP patients and provide them with various support (IDI, health worker, Micheweni district hospital)

The government should provide education on the disease itself and its impacts. The government has the capacity to treat these patients and do further investigations to family members and on medicines to come up with the solutions. Secondly, this disease should be included in the medical school curriculum for students to be well equipped before they start practice. For example, the education they provided on schistosomiasis has helped a lot as the prevalence has gone down (IDI, influential person, Sizini)

Other issues they considered important include carrying out more research in the area to come up with XP cure to prevent deaths among children; keeping the environment clean and respecting religious commandments. Community members also called on people to go back to their customs and traditions including performing rituals as they have been associated with this XP disease.