Caring and living with Prader-Willi syndrome in Italy: integrating children, adults and parents' experiences through a multicentre narrative medicine research.

OBJECTIVES: Prader-Willi syndrome (PWS) significantly impacts health-related quality of life; however, its relational and existential aspects remain unknown in Italian clinical and social debate. The project aimed to investigate the impact of PWS on illness experience through narrative medicine (NM) to understand the daily life, needs and resources of patients with PWS and their caregivers, and to furnish insights for clinical practice. DESIGN AND
SETTING: The project involved 10 medical centres of the Italian Network for Rare Diseases and PWS family associations and targeted underage and adult patients with PWS and their caregivers. Written interviews, composed by a sociodemographic survey and a narrative, were collected through the project's website. Three dedicated illness plots employed evocative and open words to facilitate individual expression and to encourage reflection. Narratives were analysed through NVivo software. Researchers discussed the results with the project's steering committee. PARTICIPANTS: Twenty-one children and adolescents and 34 adults with PWS joined the project, as well as 138 caregivers. A PWS diagnosis or the caregiving of a patient with PWS older than 5 years represented the eligibility criteria, as well as the willingness to share their illness experience by writing and the ability to communicate in Italian.
RESULTS: The analysis of narratives led to understanding the PWS social and relational issues concerning diagnosis and current management, PWS daily experiences and social contexts, PWS implications in the working sphere and participants' future perspectives. Narratives demonstrated that PWS management affects relationships and work-life balance and that social stigma remains present.
CONCLUSION: The project represented the first effort to investigate the impact of PWS on illness experience in Italy through NM while considering the perspectives of patients with PWS and their caregivers. The findings indicated that a multiprofessional approach is fundamental to ensure adequate treatment and provided elements for its improvement. © Author(s) (or their employer(s)) 2020. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.

Inclusion of patients with Prader-Willi syndrome (PWS) perspective in the project.

Narrative medicine approach.

Participants did not equally represent the geographical areas of Italy.

Among patients with PWS, researchers included only those able to write.

Introduction

Prader-Willi syndrome (PWS) is a rare genetic condition caused by an absence of functioning paternal genes on chromosome 15 in the 15q11-q13 region1: approximately 65%–70% of the cases are due to the deletion of this region, 20%–30% are caused by a maternal uniparental disomy of chromosome 15 and most of the remaining 2%–5% have an imprinting centre defect or unbalanced translocations (~1%).2 PWS occurs in approximately 1 in 10 000–30 000 births,3 affecting both sexes and all geographic areas.4

Neonatal hypotonia, poor sucking and feeding difficulties characterise PWS in early infancy; dysmorphic signs (mild craniofacial abnormalities, small hands and feet, kyphoscoliosis), multiple endocrine abnormalities (growth hormone (GH)/insulin-like growth factor-I axis dysfunction, hypogonadism, central hypothyroidism and central adrenal insufficiency) and developmental delay constitute other cardinal features of the syndrome.5–7 Learning disabilities, maladaptive behaviours and hyperphagia—leading to life-threatening obesity if uncontrolled—follow in childhood and adulthood.3 8 The mortality rate of patients with PWS is higher than in the general population,9 with a 3% annual death rate across all ages.

Behavioural issues are noticeable in PWS, including aggressive and obsessive-compulsive behaviours and skin picking,10 11 and patients present a higher risk of developing psychiatric illness in adulthood12; food-seeking behaviours are particularly complex and13 significantly affect patients and caregivers’ health-related quality of life (HRQoL). In particular, PWS caregivers—compared with other families managing children’s disability or complex condition—report a higher level of stress, more difficulties in coping with symptoms,14 a higher caregiving burden15 and a lower HRQoL.16

The clinical picture of patients with PWS substantially differs during the lifespan,3 6 and the prognosis is significantly conditioned by proactive interventions to prevent morbid weight excess.9 Currently, no treatment is available for PWS. However, early diagnosis combined with multidisciplinary care favourably influences the course of PWS17; therefore, the diagnosis should be confirmed early during the neonatal period,18 with the support of genetic testing development.19 In this context, early GH treatment has beneficial outcomes on, for example, height, body composition, endurance and sense of well-being20–22; furthermore, early treatment with recombinant GH positively affects the HRQoL of patients with PWS23 and caregivers.24 25

The social, relational, emotional and existential aspects of PWS remain profoundly unknown, and the debate within Italian clinical and social communities has been poor: the WHO has stressed the importance of researching the measurable dimensions of HRQoL and—more broadly—illness experiences in leading clinical and social practice and recommends using narrative research.26

The discipline of narrative medicine (NM), based on illness narratives,27 pursues the integration of the disease-centred approach and is concerned with clinical aspects and the illness-centred and sickness-centred approaches, which respectively focus on individual experience and the social understanding of a specific condition,28 and both have often been neglected by the scientific community. The range of applications for NM is from clinical practice to therapeutic path design, education and research.29 In research, narratives have demonstrated possible interventions on a specific condition through the integration of all perspectives involved in the pathway of care.30 31 Combining evidence-based medicine and NM provides clinicians methods to strengthen clinical practices with narrative competences.29 NM research addresses the individual’s experience when coping with distress caused by clinical conditions: it allows for the understanding of the profound experiences, needs and values of all actors involved in the care pathway.27 32 Scientific societies, healthcare facilities and patient associations have increasingly employed NM research findings to improve the organisation and efficacy of healthcare services, generating sustainability26 and fostering quality of care for patients and their social and relational contexts.27

The NM project ‘PRAXIS: Prader-Willi Excellence in Care with Story Taking’ aimed to investigate the PWS illness experience by employing the analysis of narratives (A) to understand daily life, real needs and personal resources of people with PWS and their caregivers from diagnosis to current management, and by doing so, (B) furnish insights to support a multidisciplinary and a multiprofessional perspective in PWS clinical practice.17 According to our review of the literature, no other project has addressed these issues simultaneously by considering the perspectives of underage and adult patients with PWS and their caregivers.

Methods

Research design and setting

The project was conducted in Italy between October 2018 and July 2019, as a part of a broader research project, and targeted people with PWS and their caregivers, as well as professionals working with PWS. The professionals underwent a webinar conducted by researchers from the ‘Istituto Studi Direzionali’ (Institute of Management Studies, ISTUD) Foundation to be trained in NM and on the project’s aims and methods; moreover, a parallel chart27 33 was identified as the most suitable NM tool to collect their narratives because it constitutes a personal notebook, parallel to the clinical record, in which professionals can write their impressions and feelings in plain language as a supplement to technical and quantitative reports.27 30 33 Participants with PWS were given the possibility to express by drawing if under 5 years old or if unable to write; however, some participants over the threshold of 5 years old decided to maintain both the opportunities of expression.

The target group was people with PWS aged older than 5 years and their caregivers. Participants were recruited from 10 medical centres for paediatric and adult patients in the Italian Network for Rare Diseases (online supplementary material 1), namely six general hospitals and four scientific institutes of research, hospitalisation and healthcare: all the medical centres were macroregional, hospital-based centres that specialised in PWS treatment, and they were distributed among geographical areas (North, Central and South Italy). The Italian Prader-Willi Federation, and the Prader-Willi Association of the Lazio Region were also involved in disseminating the project; in particular, they organised three seminars—one each in the Lombardy, Lazio and Sicily regions—to provide the caregivers of those regions the opportunity to be further informed on NM and the project’s aims and methods.

A PWS diagnosis, determined at the reference medical centre, or a caregiver for a person older than 5 years with PWS represented the eligibility criteria, as well as the willingness to share their illness experience by writing; thus, the ability to communicate in Italian was indispensable for the inclusion in the project. Participants were informed of the possibility to view the projects (in Italian) on the project’s web page: www.medicinanarrativa.eu/praxis

Data collection

Written stories of experiences were collected anonymously through the project’s web page; next, raw and anonymous narratives were downloaded as a Microsoft Excel spreadsheet. A sociodemographic survey constituted the written narrative, together with an illness plot,34 35 namely a plot related to the illness experience: it serves to guide narratives in a chronological order to identify evolutions over time and is characterised by evocative and open words that facilitate individual expression.36

Three illness plots were designed for three different groups—underage and adult patients with PWS, and caregivers (online supplementary material 2)—while addressing common aspects: (A) diagnosis and current management of the condition, namely the strategies related to food behaviours; (B) daily living with PWS, namely the relational sphere and social context; and (C) the work experience and future perspectives.

The project design and the research tools were created by the project’s steering committee, which comprised three endocrinologist experts in PWS, namely one each from the Oasi Maria SS Research Institute (Troina, Italy), the Bambino Gesù Paediatric Hospital of Palidoro (Rome, Italy) and the Istituto Auxologico Italiano of Piancavallo (Oggebbio, Italy), and three researchers from the ISTUD Foundation different for academic backgrounds, to reduce the personal influence on the research.

Patient and public involvement

The research was conducted without patient involvement. Patients did not participate in developing the research design and tools and were not engaged in the interpretation and discussion of the results. Patients were not invited to contribute to the writing or editing of this document.

Ethical considerations

The project was performed according to the principles of the Declaration of Helsinki. Before the participants’ involvement, they provided written informed consent after being briefed on the project’s purpose and confidential data handling procedures, according to the Italian Law 196/2003 on Privacy and the Safeguarding of Sensitive Data37 and the General Data Protection Regulation of the European Union 2016/679.38 Involved professionals obtained written informed consent to participate from parents and tutors for underage participants during the first interview on the project’s methods and purposes. Next, the professionals briefed the underage patients on the project and obtained their verbal consent to participate. Moreover, written informed consent to participate was obtained from adult participants and/or their tutors when appropriate. The Ethical Committee of the Oasi Maria SS Research Institute (Troina, Italy) approved the project in January 2019 with the ethics approval number 2019/01/09/CE-IRCCS-OASI/19.

Analysis

We analysed the sociodemographic survey through descriptive statistics; no question was mandatory.

We separately examined the caregivers and patients’ perspectives. Anonymous narratives were entered into NVivo software39 for coding and analysis. ISTUD researchers collectively coded 10 narratives in NVivo to assess consistency across team members. Afterwards, each narrative was coded separately by at least two researchers and then reviewed during weekly meetings and peer debriefings to reduce bias in the interpretation of texts. Open interpretive coding was employed to identify and analyse emerging topics; Kleinman’s28 classification was retrospectively applied to the analysis of narratives because the researchers considered it the most suitable to further reveal illness-related and sickness-related aspects in narratives, respectively concerning the personal and emotional experience of a condition and how it is perceived within society.

The analysis process and results were shared within the project’s steering committee to collectively address emerged topics and interpretation of data. Researchers followed the Standards for Reporting Qualitative Research reporting guidelines.40

Results

Sociodemographic aspects

Twenty-one children and adolescents and 34 adults with PWS participated in the project, as well as 138 caregivers. Table 1 summarises the sociodemographic data of these three groups; the representation includes non-responses as a separate category.

Table 1

Sociodemographic data of participants

	Minors with PWS(n=21)	Adults with PWS(n=34)	PWS caregivers(n=138)
Gender (%)
Females	6 (29)	19 (56)	99 (72)
Males	15 (71)	15 (44)	37 (27)
Non-responses	0	0	2 (1)
Age (years)
Mean (SD)	14 (3.09)	29 (9.72)	48 (9.04)
Minimum	7	19	20
Maximum	18	48	61
Geographic residence (%)
Northern Italy	3 (13)	19 (58)	29 (21)
Central Italy	4 (19)	6 (18)	40 (29)
Southern Italy	14 (69)	9 (24)	69 (50)
Non-responses	0	0	0
Education (%)
Elementary school	10 (48)	2 (6)	5 (4)
Middle school	5 (24)	10 (30)	19 (14)
High school	2 (10)	21 (64)	76 (55)
University degree	0	1 (1)	19 (14)
Non-responses	4 (19)	0	19 (13)
Marital status (%)
Single	21 (100)	33 (97)	3 (2)
Married/cohabitate	0	1 (3)	118 (86)
Divorced/separated	0	0	14 (10)
Widowed	0	0	3 (2)
Non-responses	0	0	0
Employment status (%)
Student	21 (100)	4 (11)	3 (2)
Working	0	19 (56)	94 (68)
Not working	0	11 (33)	38 (28)
Retired	0	0	3 (2)
Non-responses	0	0	0

Data presented as n (%) or mean (SD) and minimum/maximum.

PWS, Prader-Willi syndrome.

Results from the analysis are presented by following the dedicated illness plots’ structure: (A) the first section concerns PWS diagnosis and current management, in which narratives’ illness-related and sickness-related aspects, caregivers’ perspectives on therapeutic path and strategies to manage food-seeking behaviours are addressed; (B) the second section focuses on living with PWS in relational and social contexts and addresses participants’ indoor and outdoor daily activities; (C) the third section concerns the narratives on the working sphere of caregivers and adult patients with PWS and participants’ future perspectives and desires.

From diagnosis to the current management of PWS

Thirty-six per cent of caregivers reported that their children were diagnosed with PWS within the first month of life (figure 1); however, 10% affirmed that the diagnosis occurred after the child’s third year of life.

Figure 1

Age of children with Prader-Willi syndrome (PWS) at diagnosis.

In narratives, 95% of caregivers focused on PWS illness and sickness-related aspects (table 2); the remaining 5% adopted technical and clinical language28 to discuss the condition, as exemplified in the following two quotes from narratives: (A) She was hospitalised at the Neurology department for a muscle biopsy; diagnosed with congenital myopathy and 2 years later, underwent the DNA test. She was sent to a hospital in Northern Italy, and from there, we got the Prader-Willi diagnosis (Caregiver 015). (B) He underwent nine surgeries: adenoids, laryngotomy, broken arm fracture, desmoid, flat foot, strabismus. He has been taking GH since he was a child (Caregiver 063). Disbelief, displacement, anger and pain represented the most recurrent emotions expressed by caregivers when attempting to adapt to the situation and its criticalities. Patients with PWS—underage and adult—described the condition only through its illness-related and sickness-related facets.

Table 2

Illness and sickness-related aspects: quotes from narratives

	Caregivers	Minors and adults with Prader-Willi syndrome
Illness	It is not easy to live with a child who has this syndrome, especially when she asks for food. I tell her ‘No,’ and she starts to cry and get upset, screaming and saying things to me that I do not understand, but I do not give up. (Caregiver 051) I was nervous. I didn't know what was happening. Yet in the delivery room, when I saw my baby, she was beautiful! What was the problem? When I talked to a geneticist the next day, I started crying. (Caregiver 074) Broken dreams, the feeling that something has changed forever—that my life has changed. I used to be so self-confident, so independent, and suddenly, I felt fragile, scared, and alone—dreadfully alone, unable to react. (Caregiver 031) When my son was born, the doctors immediately told me that something was wrong. It was terrible. I was young, and he was my long-awaited first child. (Caregiver 019)	I feel proud. My disability does not scare me. (Adult with PWS 030) Sometimes I feel happy, and sometimes I am sad because of my disease. (Adult with PWS 005) I want to be with the other non-disabled kids—my only problem is eating. (Minor with PWS 007) I mostly feel happy, but sometimes I am a bit sad about my illness. I am happy because the Lord created me, and I like myself as I am when I came into existence. (Adult with PWS 009)
Sickness	Food is not the only danger: anything can happen to my son, he can be tricked or manipulated. (Caregiver 062) When my daughter was diagnosed with Prader-Willi syndrome, I felt terrible, because I couldn't accept the syndrome and because I saw the other mothers with their children, happy and carefree, and I knew it wouldn't be like that for us. Over time, I learned to accept the situation. My daughter's disability does not mean not living—it means living differently. (Caregiver 049) I was upset. It was hard to believe that my daughter could not have a future like all the other children. (Caregiver 052) Often, we felt desperate, especially as we thought about our son's future, but then, we learned to deal with problems as they arose. (Caregiver 027)	I do not feel equal to the kids of my generation. I hate myself. I want to die. Sometimes I would like to be a boy like the others and to always be happy. (Adult with PWS 014) The effects of Prader-Willi syndrome last throughout one’s lifetime. It is difficult to communicate with others, even with my own parents. (Adult with PWS 016) Other people are bad. They do not care about me because I have this syndrome. (Minor with PWS 007) On the one hand, I feel different from others because I am disabled and hypotonic. On the other hand, I do feel like them because I am lucky enough to walk, to see and to hear. (Adult with PWS 032)

PWS, Prader-Willi syndrome.

In table 3, a focus on therapeutic paths from the caregivers’ perspective meant addressing (A) relationships with different professionals and (B) healthcare structures, and the (C) necessary or employed treatments, beyond diet.

Table 3

Perspectives from PWS caregivers on the therapeutic path: quotes from narratives

Professionals	Thanks to our specialist, we got an appointment at the hospital, where we currently get care. They deal with many cases, and for us, this is a guarantee. On a human level, they are unparalleled, available, smiling; this lets us be more at peace, without feeling our burden. (Caregiver 038) I started meeting health workers, support teachers and incapable teachers, unprepared paediatricians, arrogant doctors, medical commissions, and courts. I clashed with bureaucracy, absurd health protocols and illogical rules to get what my daughter was entitled to and to support her psycho-physical well-being. (Caregiver 031) I was disappointed by the professionals. They talked about my son and my life as something that could not be changed, fatal, hopeless. I decided to get as far away as possible. My son was not a syndrome, he was a child. (Caregiver 011)
Healthcare structures	We do not live in a big city, so we had great difficulty getting our daughter adequately seen to. (Caregiver 018) At the hospital, they presented us with the path we should have taken… on a medical level! For a therapeutic level, I had to resort to private professionals and centres. (Caregiver 024) Miles of roads and hotel rooms characterise the therapeutic path that families must pass, both in economic terms and in terms of stress. (Caregiver 066)
Treatments	This part was better than expected. The only medicine we use is GH, which is simple and painless. (Caregiver 008) Psychomotricity, GH, speech and music therapy, psychological support and sports. (Caregiver 010) During his adolescence, we had to resort to psychiatric drugs: this felt like a defeat, but it was necessary. Our son had become unmanageable. Psychiatrists have little knowledge of the syndrome. (Caregiver 027)

GH, growth hormone; PWS, Prader-Willi syndrome.

From caregivers’ narratives, food-seeking behaviours13 emerged as the most challenging event within the domestic context. Caregivers were aware that feeding is the first treatment for people with PWS and sought strategies to feed them. Fifty per cent declared that they had achieved a balance, and the other 50% reported a problematic relationship with food. Both underage and adult participants with PWS were aware of the importance of following a diet: positive or negative relationships with food emerged from narratives, where (A) the positive relationships also represented the result of commitment and several strategies to manage food-seeking behaviours, and (B) food seeking was related to emotions (eg, anger). Table 4 shows the main elements that emerged from the caregivers and PWS participants’ narratives.

Table 4

Attitudes towards food-seeking behaviours: quotes from narratives

	Caregivers	Minors and adults with Prader-Willi syndrome
Commitment	The first thing that I did was to visit a professor in Switzerland to get a diet as pure as possible that could give strength and good energy to my child. I decided to follow it. (Caregiver 011) We began to have a different relationship with food and to be more aware of what we could and could not eat. (Caregiver 034) We tried to accustom the whole family to healthy eating as much as possible. I taught my son to read nutrition labels so that later he would be able to choose what is best. He already knows that he must not eat too much sugar and fat. We eat at fixed times, but it is not easy to manage his hunger. (Caregiver 040)	I know eating a lot is bad for me. I follow my diet, so I don't get fat. (Minor with PWS 005) I stay on my diet, and I never steal food. Even if someone offers me something, I do not accept it. (Adult with PWS 032) I am following a diet that was prepared by a nutritionist. (Adult with PWS 023)
Strategies	We are almost always able to keep it under control; we focus a lot on food education (ie, salads, vegetables, and no snacks). We let her choose among certain foods. This helped satisfy her, allowing us to eat differently. (Caregiver 032) Food is the main problem for my child; there are both positive and negative moments. So, we are tough if we need to be, but sometimes we make exceptions. (Caregiver 060) Food is always on our minds, but we try to manage everything in the best way we can. We try to live as normal a life as possible, and we try not to upset his habits. We give him some treats (he goes to parties, goes out with some friends, and can eat pizza). (Caregiver 064)	I like to eat everything. I try to eat lots of vegetables, even if I do not feel full, and whole wheat pasta. When I am playing or doing a puzzle, I do not think about hunger. Mom tells me that if I want to eat more, I have to move around more. (Adult with PWS 003) I try to organise my day in fixed patterns, and I know I can eat at certain times. (Minor with PWS 003) So, I do not think about food, I go for long walks, I do crossword puzzles and other puzzles and I play on my tablet and computer. (Minor with PWS 006)
Criticalities	Unfortunately, food is an obsession and is challenging to manage. I have found my little child hiding food many times. (Caregiver 052) The food issue is a daily challenge. Lunches and dinners are no longer quiet, and we live with anxiety. The kitchen is no longer a meeting place. (Caregiver 066) This is our conviction, a continuous struggle, day and night—the monster we have to defeat. (Caregiver 067)	I eat outside of meals because I hate myself… I am hungry because my parents do not give me the right portions, and then I get fat and go to the hospital, I steal food… because I am hungry. I do not follow my diet. (Adult with PWS 014) Seeing other people eating is painful. (Adult with PWS 022) When I think of food, my eyes shine, and when I see food, I want it at all costs, and I cannot stop myself. I am always hungry, and I never get enough; when I overeat, I feel sick. When they tell me that I should not eat so much, I get angry and anxious. (Adult 031)

PWS, Prader-Willi syndrome.

Living with PWS in relationships and in social contexts

Thirty-six per cent of PWS caregivers described daily life at home as quiet; however, most (64%) reported: fatigue (21%), chaos (6%), all-encompassing assistance (20%) and using tested routines to better manage food-seeking behaviours (17%). They have attempted to maintain their hobbies, interests and outside activities, even though their sons and daughters have PWS (table 5). Relationships external to the family are difficult to preserve, imposing a radical change in social life. Indoor and outdoor activities represented an essential tool for caregivers in managing emotion patterns and food-seeking behaviours: narratives demonstrated that underage and adult participants with PWS were aware of that. Sport, mind activity games, gardening and pet therapy were some of the most helpful activities reported; furthermore, patients with PWS appeared dedicated to cleanliness and routine activities. Both relational and activity spheres revealed the influence of behavioural and emotional changes in daily life and in familiar and social contexts; moreover, narratives addressed the strong presence of caregivers, as well as situations of social inclusion or exclusion.

Table 5

Living with Prader-Willi syndrome (PWS) in activities and relationships: quotes from narratives

	Caregivers	Minors and adults with PWS
Indoor activities	I like talking to my daughter, finding out what she wants to do and meeting her needs. I like to see her play with her friends and laugh because she is lovely and charismatic. (Caregiver 037) I love being with my family; I'm a full-time mom. I would like to go to the gym and to be a woman like others, but I do not have time. (Caregiver 043) In my spare time I am a musician. (Caregiver 041)	I have two kittens at home. I take care of them. At home, I help my mother cleaning and ironing clothes and shirts. Every day I take care of my hygiene and make my bed. (Minor with PWS 002) Mom does not want me to go to the kitchen. I do puzzles or embroidery. I watch Disney cartoons. I read the newspapers. When I am sad or angry, I try to eat. I often quarrel with my mom. My dad says nothing because he makes me more upset. (Adult with PWS 003) I watch television, I listen to music and I pray every day. Every morning I make the beds, and I set the table while my parents are cooking. (Adult with PWS 012)
Outdoor activities	I refresh myself by being alone. I do yoga, I study Japanese, I sing in a choir. I have not given up my passions. (Caregiver 074) As the years went by, I dedicated more and more time to my son. So, I gave up my passions to devote myself to him. I still cultivate a passion for sport, which I rarely practice. I love reading at night. (Caregiver 019) I would like to swim, to go for walks by the sea and around the lake. I would like to have no responsibilities, schedules or limitations; I would like to be a little carefree. (Caregiver 012)	I do athletics, especially playing football and swimming. I go for walks with others, alone or with my dog. I like going to see my favourite football team play at the stadium. I play videogames and watch movies. I like going to see my favourite animal, the dolphin, at the dolphinarium. (Adult with PWS 011) I try to help people in trouble. I do a lot of activities such as swimming pool, occupational therapy and kinesiotherapy because I have had back surgery twice for severe scoliosis. (Minor with PWS 006) I like going out, shopping, swimming, listening to music, drawing, cutting and pasting, making figurines and making collages. (Adult with PWS 027)
Relationships	Some people have tried to understand the condition, but others have disappeared. The syndrome helped me to choose from among the people around me. (Caregiver 075) My father and my mother were as sorry and as much in disbelief as I was, and they were unable to get over it. My sister and friends supported me. My husband shut himself off, and he is present and absent at the same time, except for practical things. (Caregiver 004) The grandparents have been fantastic, available and always ready to help us. Our friends did not understand our situation, and our roads soon split: your social life changes radically. (Caregiver 066)	My parents are the closest and most valuable people. They are strict but affectionate and loving. I am always looking for contact with them, even if I have made them angry. My brothers are also close to me. One of them is playful, and the other one is protective, a little severe. With them, I am calm and feel protected. (Adult with PWS 038) At school, I have tried to get closer to others, but they do not like to be with me and do not want me. My professors love me; however, with some of them, I feel that I am different and not good. As for my parents, my biological mother did not love me, and my father hated me; my new parents love me so much. (Adult with PWS 014) I love my family. They do everything they can to make me happy. (Minor with PWS 008)

Work and future perspectives

Sixty-two per cent of family caregivers had to change their job after the birth of their child with PWS (table 6): more than one-third left their current work, 8% changed jobs to assist the child, 8% requested a part-time job and 3% abandoned the perspective of a career. From a gender perspective, 63% of female (mothers) and 33% of male caregivers had to change their current job to adapt to the child’s condition. Forty-six per cent did not discuss PWS in the workplace or discussed PWS with only their closest colleagues; 36% reported comprehensive behaviours, and 18% declared a lower understanding of PWS management necessities than for other diseases, such as cancer. Based on the narratives, work was a positive personal resource. Fifty-six per cent of adults with PWS declared that they were working in jobs mainly characterised by low complexity and repetitive operations and conducted in social cooperatives or centres, small companies with high corporate social responsibility and family companies. Work is a source of pride and well-being and a distraction from food, but episodes of irritability and aggressive behaviours have been reported.

Table 6

Prader-Willi syndrome and the work sphere: quotes from narratives

Adults with PWS

My colleagues are supportive; they are good listeners and give me good advice. (Adult with PWS 008) I deal with publicity, I answer the phone, I receive the people who visit, and I do other tasks that the office managers assign me. If I am happy and motivated, I do not go looking for food. I look for food only when I am nervous. I have made so much progress, and so I do it less. (Adult with PWS 015) I often have nervous attacks and respond badly. I offend with swear words those who make fun of how I am doing my job. (Adult with PWS 006) I work in a nursing home 5 days a week. I wash laundry and iron and fold the guests’ clothes. I work with a girl who takes care of me and teaches me many things. Every day I work with a different person, depending on the shift. With them, I feel good because they treat me like a normal person, and they praise me every time I work with them. (Adult with PWS 013)

PWS caregivers

My colleagues firmly support me. They give me the ability to meet my personal needs, which allowed me not to leave my son and my wife alone. They were like a second family to me, and they all contributed as much as they could. (Caregiver 054) I had to leave work. I was working in the factory 8 hours a day, and it was not possible to ask for a part-time position. (Caregiver 053) The job was a safety valve, a place to have a normal life. (Caregiver 023) When another daughter of mine had cancer, my colleagues were very involved, helpful and supportive. Everyone understands cancer. The disability is different, particularly the Prader-Willi syndrome, which is not very obvious. (Caregiver 008)

PWS, Prader-Willi syndrome.

Regarding future perspectives, PWS family caregivers hope to have long lives so that they can care for their sons and daughters as long as possible, and they were particularly concerned with what would happen to their children without familial support (table 7). Caregivers also addressed social inclusion, such as social changes and openness, rather than clinical solutions to PWS. Adult participants with PWS demonstrated self-realisation through work (27%)—as underage participants did—and the desire to have a family (46%), recover from PWS (10%) and generally live well (14%).

Table 7

Living with Prader-Willi syndrome and future thoughts: quotes from narratives

Minors with PWS	When I grow up, I want to be a professor of endocrinology to study my syndrome. (Minor with PWS 007) I want to be a vet because I love animals. (Minor with PWS 014) I want to drive an ambulance and do many different jobs. (Minor with PWS 009)
Adults with PWS	I want to start a family by adopting a child because I have so much love to give and to be with my boyfriend. I hope to work in the same place where I am. I do not know how to live without my parents; they help us a lot. (Adult with PWS 013) I want to go live with the person I love the most in the world and to have children. Above all, I want to become a famous singer, and personally meet all my favourite singers. I want to get married and live in a beautiful house with a pool. (Adult with PWS 009) I hope that medicine will be able to find a drug to that can increase my satiety and limit my nervous hunger, which is unfortunately increased by my syndrome. Some moments are hard to overcome. I hope to live as well as I can with the consequences of the syndrome, and I hope that doctors are able to find treatments to alleviate the challenges. I hope that other people will also be able to live better lives. (Adult with PWS 015)
PWS caregivers	I am sure that his future will be full of satisfaction. We are working to ensure a positive future for him and to find him a job that makes him happy and confident in his abilities. (Caregiver 075) I believe the future will be challenging; I hope that I am wrong, but I realised that most people care most about their own business. Indeed, it is painful and challenging to care for or remain close to people with this kind of pathology. Still, perhaps if people did their part and committed themselves more to social causes, the future could be different. We should learn from an early age that we need to help other people and stand by those in need. (Caregiver 054) As long as we, her family, are there, I think that her future is protected. What comes after is frightening, but I know I have to do something for her… I owe her that! (Caregiver 031)

PWS, Prader-Willi syndrome.

Discussion

The PRAXIS project represents the first effort to investigate the PWS illness experience in Italy through NM by simultaneously considering the perspectives of underage and adult patients with PWS and their caregivers. The project first aimed to understand their daily life, real needs and personal resources. Fifty-five participants, namely children, adolescents and adults with PWS, reported joy and pride in sharing their stories, also suggesting that using evocative and open words36 in structuring illness plots can be crucial to helping people to express themselves. Moreover, the collection of 138 caregiving stories suggested a strong dedication to the survey and the need for caregivers to be listened to: they described writing as liberating, demonstrating its potential (A) to have a therapeutic effect27 33 and (B) to be a safe space from the attitude of passing,41 namely handling information considered discrediting or critical for the self to avoid social stigma.

Talking about PWS emerged as a ‘taboo’. In illness-centred and sickness-centred narratives,28 caregivers encountered significant difficulties in socialising the challenges PWS imposes in daily life, as well as the pain of having a child ‘different’ from social imagery: we identify this as a social pain that also concerns caregivers when performing familiar criticalities. Furthermore, caregivers considered the project a chance to invite society to integrate people with PWS and to denounce the stigma41 that surrounds them.

If the literature demonstrates cognitive impairment in people with PWS,6 we would like to enrich the evidence by suggesting the consideration of the multiple intelligences42 these people demonstrate in their everyday experience. In line with Gardner’s42 reflection, revealing alternatives to the standard forms of intelligence (the logical-mathematical and linguistic ones), the narratives demonstrated the constant use of visuospatial, musical, interpersonal, existential and introspective talents, resources and capabilities. In this regard, patients with PWS have been reported to show above-average performance in several tasks implying visuospatial skills,43 which in the general population are linked with higher math abilities.44 In particular, the importance of multiple intelligences emerged in food-control strategies and activities, consequently suggesting that considering them may positively influence the overall illness experience.

Considering the second purpose of the project, specific elements emerged from the analysis of therapeutic paths. PWS diagnosis mostly occurred up to the child’s second year of life, but in some cases, a significant delay remained, particularly for those people living away from specialised centres. Because timing is essential in PWS treatment,9 training for neonatologists, geneticists and general paediatricians on PWS might improve early diagnosis. Moreover, the other professionals involved also must develop or strengthen specific PWS competencies to appropriately address this condition.

The narratives demonstrated some peculiar clinical PWS characteristics, such as irritability, aggressive and obsessive-compulsive behaviour10 11 and food-seeking13 behaviours. The last resulted in the most challenges for the people with PWS and their caregivers: food management strategies,45 and indoor and outdoor activities46 and school or work schedules,47 48 can help people with PWS and their caregivers improve their relationships with food and family members, enhancing overall daily life.

Diet management and strategies, early GH therapy, clinical and psychiatric treatments, activities in specialised or social centres and the different professional roles involved demonstrated that a mutiprofessional approach that integrates the factors of hospital and territory is fundamental to ensure adequate treatment of PWS17 47 49 and to mitigate the burden of caregiving reported in the narratives and the literature.14–16 In particular, two related topics emerged: (A) mostly women (mothers) changed or retired from work to become a caregiver; (B) family caregivers stated their concerns regarding what will happen to their sons and daughters if no family members are available—a topic already addressed by Italian Law 112/2016, on the social inclusion and autonomy of people with disabilities. These considerations also suggest, on the one hand, that social centres and services are crucial but need to be implemented in areas that have insufficient support for people with PWS and their caregivers, and on the other hand, a focus on work policies to create autonomy and social inclusion. Overcoming economic, legal and social barriers and improving the current service provision still represent a challenge; patient organisations and scientific societies may have a crucial role in addressing these issues. Furthermore, although a national plan for rare diseases50 has been developed in Italy since 2013, its application in daily practice remains demanding. One possible intervention strategy to reduce medical barriers requires universities and scientific societies to develop specific educational programmes; in particular, creating a PWS national register may help interface with similar international tools.51

The acknowledgement of the importance of multiple intelligences42 in everyday experiences may also improve the daily and relational life of people with PWS or their caregivers, together with ameliorating the social stigma of PWS and enhancing social inclusion. Multiple intelligences might also become a tool in clinical practice to better evaluate people with PWS; moreover, an evolving model for PWS care should include modern technologies, for example, video visits, remote monitoring and electronic health records.52

The participants in the project did not equally represent the different geographical areas in Italy because of the local distribution of expert centres in the management of care for PWS, and this could be a selection bias. Furthermore, the results are specific because of (A) the voluntary nature of the project and (B) the critical difference among Italian regional healthcare systems; therefore, further analysis is required. For people with PWS, the inclusion criterion of being able to write represented another bias.

In conclusion, this NM project provides new insights into the individual and social experiences related to PWS and provides elements for improving multidisciplinary and multiprofessional perspectives on this condition: the social, relational and emotional aspects of PWS crucially influence the illness experience and narratives that can foster the relationship between PWS professionals, patients, families and the community.