The exploration of themes
The different themes and sub-themes discussed by the patients during the interviews are shown in table 2 with the number of references per theme and the number of interviews in which the theme was present and in table 3 with examples of patients’ verbatim per theme and subthemes.
Themes and subthemes
|
Number of interviews where the notion is present
|
Number of references to the themes
|
Feelings about oneself and others
|
|
|
Recognition and gratitude
|
14
|
29
|
Self-esteem
|
12
|
30
|
|
|
|
Expressed feelings
|
|
|
Sadness
|
5
|
18
|
Resentment
|
8
|
25
|
Regrets
|
2
|
6
|
Fear
|
11
|
22
|
Anger
|
8
|
33
|
|
|
|
Access to care
|
|
|
Technical aspects
|
5
|
6
|
Financial aspects
|
13
|
27
|
|
|
|
Quality of life
|
|
|
General quality of life
|
9
|
31
|
Oral health-related quality of life
|
7
|
22
|
|
|
|
Care course
|
|
|
General care course
|
14
|
23
|
Oral care course
|
16
|
43
|
|
|
|
Limitations
|
|
|
Due to disabilities
|
13
|
43
|
Due to tiredness
|
2
|
9
|
|
|
|
Social insertion
|
|
|
School life
|
9
|
18
|
Professional life
|
8
|
20
|
|
|
|
Attitude and behavior towards the disease
|
12
|
62
|
Table 2 Themes and subthemes and number of references per theme
Care course
Oral health care course
Many patients describe a lack of awareness among dentists regarding the clinical signs of the condition. At the oral level, the care pathway is therefore felt to be very chaotic, with a lot of therapeutic delay.
The patients interviewed describe the challenge of finding competent local professionals acquainted with the disease. In most adults, this led to a worsening of their condition due to a lack of appropriate care. All of them acknowledge an improvement in their condition when they were treated in the dedicated dental service in Paris, where medical professionals understand this pathology. The patients described their weariness with having to repeat the history of their disease and its oral particularities to all the dentists they had seen. They describe that dentists do not see the clinical link with the disease.
For children, parents describe that if they are taken care of early during childhood, it is much easier for them both.
The patients interviewed described multiple extractions, which they considered to be over-treatment, because, according to them, no one had been able to treat their teeth correctly until they arrived in the Parisian service.
The patients reproached the practitioners for not candidly saying when they did not know and for misdirecting them.
General disease care course
Some interview subjects described living far from the hospital. Adult patients and parents of young patients described challenges to care and diagnosis, going from doctor to doctor to get an accurate diagnosis.
One patient even described how a surgeon wanted to remove her hips and put plastic hips on her. Some patients described feeling like guinea pigs as children.
Patients described that finding a team in a hospital department that could take care of their condition and direct them to this Parisian oral medicine department significantly improved their care pathway. Team cohesion and communication were a major source of improvement in their care pathway.
The patients interviewed described again, at times, a lack of knowledge of this rare disease on the part of general practitioners and doctors.
Quality of life
General quality of life
The interview subjects spoke at length about how the disease impacted their daily lives both psychologically and physically. They reported a decrease in their physical abilities: leg pain of varying degrees in adults and children, including difficulty walking, occurred during major physical efforts (long walks, runs, etc.). Patients refrained from playing certain sports they would have liked to play, such as football for example, or even taking part in physical education and sports classes at school, as they could not keep up. The patients described a general quality of life altered by the daily limitations due to the disability generated by the disease.
Oral Health-Related Quality of Life
The patients described episodes of intense pain, infection, an altered smile, problematic chewing, and even extracted teeth that were too expensive to replace. In terms of their oral health, quality of life became quite impaired.
In terms of the function and appearance of their teeth, patients reported lifelong difficulties in eating, especially biting into bread or a sandwich. One of the main points described by the patients was the spontaneity and speed of infections, without prior signs. The patients mentioned that since their care was done in this specialized hospital service, constant attention was paid to both functional and aesthetic rehabilitation.
Renouncement to oral health care
For financial reasons/aspects
Whenever a patient described access to financial care in relation to oral rehabilitation, they described high fees, which were too expensive for them. Additionally, patients felt that practitioners expressed that they were not “profitable” patients.
For technical reasons/aspects
In addition, as already mentioned, the patients interviewed described the ineptitude of many of the dentists they met in their care, unable to recognize the clinical features of their condition.
Feelings expressed:
Sadness
The first feeling patients express is sadness arising from the diagnosis an incurable progressive genetic disease. Many were diagnosed while young, sometimes without phenotypic expression, which created fear and apprehension regarding the future pathway of the disease.
The patients mentioned the moral and psychological suffering linked to the disease and the gradual onset of limitations in their daily performance. The psychological impact of the physical alteration, even for the patients interviewed who were not in a wheelchair, was widely reported.
Fear
Many patients expressed fear about the future, their own and that of their children when they were also carriers of the pathology. This fear of the future focused on the deterioration of their physical conditions, on ageing with significant joint pain and an even greater deterioration of their oral health.
Their fear was also expressed in the slowness of the administrative processes to have their disability recognized.
Resentment
Furthermore, the patients interviewed expressed resentment against doctors who, in their opinion, had not been sufficiently attentive to their needs, even though they had a good reputation.
In addition, the patients interviewed have a lot of resentment and anger about the urban infrastructure, which they fell was not sufficiently adapted to physical disabilities and wheelchairs.
The patients’ feelings of resentment and anger were quite focused on the lack of knowledge among professionals about their disease and the lack of accessible infrastructure.
Feelings about oneself and others
Gratefulness
When patients explained the difficulty of their oral health care pathway, they expressed gratitude towards the department where the interviews were conducted. Thanks to the expertise of the practitioners, they finally received appropriate care and were able to pose questions about the disease.
The availability and attentiveness of the practitioners were elements that were often mentioned by the patients interviewed.
The coordinated interdepartmental care provided by both dentists and rheumatologists ameliorated patients’ symptoms and also improved their confidence in the medical system overall.
Self-esteem
Patients reported many elements that echo their self-esteem. The disease has a huge impact on patients’ growth and many report complexes about their height. These complexes also affect the description of the shape of their bowed legs.
The patients interviewed all described being teased at school as children. In addition, many of the patients’ spoke of the inconvenience of taking their medication orally, which they had taken since childhood and which tasted bad, at different times of the day, particularly at school, where some had to hide to take it so that they would not be asked questions.
A loss of self-confidence, related to the disability generated by the disease, is also reported among the interview subjects. Furthermore, the patients interviewed reported that when, because of their disability, they needed help to do simple things such as their daily showering, the psychological impact was significant.
Social integration
Professional integration
The patients reported professional, worrying that they had been overlooked for promotions due to repeated absences for medical appointments or to physical disabilities. These same factors negatively affected their academic records at school.
School Integration
Young children reported their fears of bullying at school related to either their condition or their treatment. Many of the children interviewed said that they had to take their treatment in secret from others.
Patients described that school absences due to frequent medical appointments and procedures had a negative impact on their academic performance.
Daily limitations
The fact that they can no longer walk for long periods, dance, do housework, or drive, are elements that are often reported by the patients. In this respect, they mention the lack of accessible facilities, which excludes them from many activities, such as getting a haircut.
The patients also described that pain and physical discomfort are sources of impairment of their general quality of life. In this sense, the patients interviewed describe limitations in access to certain jobs and thus give up their professional careers.
Attitude to Disease
Patients’ perceptions of their disease and quality of life sometimes varied dramatically. Some patients were quite resigned and accepted the limitations in their daily lives on a day-to-day basis. Others were truly angry about the lack of facilities for people with disabilities, and their anger encompassed both their own limitations and their children’s, when they were also carriers of the same pathology. Among this latter group, patients expressed a feeling of guilt and of having transmitted the genetic disease. They expressed their relief to allow their children to receive an effective and adapted oral and general care pathway.
Overall, patients were more concerned about their general health than their oral health. Despite the feeling of being well followed in their care, patients were worried about the worsening of their symptoms, particularly their pain. Also, seeing the evolution of the disease in older people in their family was a source of concern but allowed them to realize that their care had changed for the better following an accurate diagnosis.
Regarding the future of their oral health, the main concerns of patients were the weakening of their teeth due to dental necrosis and that it may lead to edentulism. Similarly, the feeling of being well monitored and informed about the consequences of XLH on their oral health decreased the patients’ worries: parents of XLH children were reassured to observe an oral monitoring adapted to the oral conditions in their child.
Themes
|
Subthemes
|
Quotations
|
Expressed feelings
|
Sadness
|
“I could no longer do my passion because I used to dance a lot, I could no longer dance.” (female, 61 years old, invalidity)
“It affects life, the quality of life, not to mention the moral suffering.”(Female, 52 years old, employed.)
“I cry but … well it’s fine, it’s over but it’s still painful and it’s a real choice … it has an impact on psychological suffering, physically, we’re not in a wheelchair, physically, we’re normal, it still has an impact on daily life.” (male, 47 years old, nurse)
|
|
Resentment
|
“When you are outside in a wheelchair … when you see France behind on the problems, the pavements, the doors that have to be pulled up! You can’t go to the toilet because it’s not provided. Now they are obliged in the new structures.” (female, 61 years old, invalid)
“You need to get a haircut; how do you do it? You take your hair and then you put a bowl on your head and then you cut what’s sticking out. I swear you have to see it to believe it.” (female, 61 years old, invalidity)
“Where I work, in a research center, there are many areas where I could work, but the situation means that the qualifications are lower. And then, with secretarial diplomas, what do you do with that? You don’t do anything.” (Male, 47 years old, nurse)
|
|
Regrets
|
“Afterwards, yes, I think I could have done more, been less of a failure than I was and done studies that would have taken me further maybe … but it’s sure that if I had been less absent in secondary school and high school…”(female, 51 years old, medical secretary)
“I would have been perhaps less lost, less drowned in school.” (female, 51 years old, medical secretary)
“It’s more afterwards, as I’m getting older, that I say to myself that maybe I should have been more careful, and now I’m careful about my son.” (female, 53 years old, invalidity)
|
|
Fear
|
“I’m worried that I’m losing all my teeth, they’re dying as I go along…”(female, 37 years old, military)
“I’m worried that the implants won’t work, and I’ll have a total brace. And then I’m afraid I’ll have hip replacements soon enough and then the pain I have is not getting better, on the contrary, it’s getting worse. So, I’m not very optimistic about old age.”(Male, 47 years old, nurse)
“What’s really difficult is the transmission of the disease knowingly, like all genetic diseases I think.” (female, 29 years old, assistant)
“I’m afraid that as the years go by it will get worse, because right now I’m young, I’m a bit energetic but I’m afraid it will have consequences later on.” (Female, 18 years old, school)
|
|
Anger
|
“They don’t want to keep crippled people at work.” (female, 61 years old, invalidity)
“You need a haircut; how do you do it? You take your hair and then you put a bowl on your head and then you cut what’s sticking out. I swear you have to see it to believe it.” (female, 61 years old, invalidity)
“To be less blindfolded and say, well, I’ve learned that A+B=C and well, that will never make D, there will never be any brackets for a little C or I don’t know what. But then, whether it’s a dentist or a doctor, it’s the same thing. You realize that it’s books, books, books … lawyer, article 1, article 2. It’s impressive how dentists and doctors are trained not to be curious, not to learn anything other than what they’ve learned in books, I don’t understand, maybe it’s a trick or I don’t know … that’s the biggest criteria I would say. But be curious, look elsewhere, listen to the patient.” (Female, 52 years old, employed.)
|
Access to care
|
Financial aspects
|
“I even have a certificate that I have a dentist who told me that I was not profitable for him and that he could not treat me.” (Female, 52 years old, employed.)
“But if you don’t have a full wallet, nobody will treat you.” (Female, 52 years old, employed.)
|
|
Technical Aspects
|
“The dentists didn’t believe me, X-rays, healthy teeth, healthy exteriors, no cavities… And no matter how hard I tried to explain to them that I had spontaneous dental necrosis. Once, I went to 15 dentists but uh… I couldn’t work anymore; it’s really disabling because you can’t have a life anymore.” (Female, 52 years old, employed.)
“They don’t want to hear, especially in my area, I think they are not specialized at all. And then, there is still a lack of information in my area and so they don’t want to hear that rickets can be the cause of many oral problems.” (female, 29 years old, assistant)
|
Quality of life
|
Oral health-related quality of life
|
“You can’t eat croutons, you can’t eat things that hurt because I have a lot of bones sticking out, I have exostoses everywhere.” (Female, 61 years old, invalidity)
“So, crunching on a sandwich, it’s always been since I got my bridge in the 85s, you can’t crunch on apples. There are things you can’t do but that’s okay.” (female, 48 years old, academic)
“I can’t chew left and right anymore, I tried to take a piece of meat out and it was the tooth I took out.”(Female, 53 years old, invalidity)
“It prevents me from sleeping, it prevents me from eating well. Instead of painkillers, sometimes I drink alcohol to knock myself out, which makes me very tired, but at least I recover more quickly in the morning to go to work.” (Female, 36 years old, employed.)
“Since I have a black tooth, I avoid smiling too much, but we keep smiling anyway, that’s life.” (female, 53 years old, invalidity)
“It wasn’t cavities, so … it was a pain that came on suddenly … it was abscesses, so there you go and obviously it came on a Saturday night at 2 o’clock.” (Female, 36 years old, employed.)
“It’s not very aesthetic, it’s always, in terms of seduction, it’s true that it’s not fabulous but, well, it’s not just the smile.” (female, 39 years old, administrative agent)
|
|
General Quality of Life
|
“There are many things in everyday life that make life difficult, and I use my electric wheelchair to do my shopping.” (female, 61 years old, invalidity)
“And morally, I suffer enormously, I have a lot of physical pain, especially in my leg, sciatica, because it’s the lumbar, and I would have to undergo an operation, but I don’t want to because it has already weakened me so much in terms of walking.” (Female, 61 years old, invalidity)
“There was a time when I had to take all my treatment, all the time in front of others, I had to hide so that no one would ask me questions. No, I had a bad time of it, I had a really bad time of it.”(Female, 36 years old, employed.)
“With my wife, we decided not to have children, for example. Since it’s a disease that is on the X dominant gene and therefore, we have a one in two chance of having a sick child and I don’t want a sick child.” (Male, 47 years old, nurse)
|
Limitations
|
Due to disabilities
|
“I had to get my ears fitted because, the disease affected my ears too.” (female, 61 years old, invalidity)
“And even to cook, I can’t do it because I can’t stand up, because I walk with a walker at home, I have one downstairs and one upstairs, because walking with canes how do you want to hold a pan.”(Male, 19, unemployed)
|
|
Due to Tiredness
|
“It’s a complicated time to be tired all the time and then, of course, the others don’t understand, the mockery. ( Female, 37 years old, military)
“But it’s a lot of suffering and a lot of fatigue. It’s especially the fatigue of not sleeping for months on end. I have a tooth that needs to be treated, which has been treated, but it’s still there.” (Female, 52 years old, employed.)
“Fatigue has affected my studies. It’s affected my work, it’s created a lot of work stoppages and brain fatigue which means that I’m really weakened intellectually some days, with a lowered morale.”(Femle, 52 years old, employed.)
|
Social insertion
|
Professional life
|
“the disease has affected my work; it creates a lot of downtime and brain fatigue, so I’m really weakened intellectually some days” (female, 61 years old, invalidity)
“I can’t take a full-time job for example so … it’s complicated.” (female, 37 years old, military)
“You’re a girl, you’re disabled, you’ll be a secretary, that’s it. I did not have a choice. It wasn’t what I wanted to do at all.” (Female, 52 years old, employed.)
“I was stopped after my hip replacement and … they put me on disability and so now I realize that I couldn’t really work at a job all day, it’s becoming difficult.” (female, 39 years old, administrative agent)
|
|
School Life
|
“I often missed school and as the disease was not very well known until the age of… I knew my first class; I was nine years old.” (Female, 52 years old, employed.)
“It caused me to have absences, so I managed … the school level it was but I found myself in a wheelchair regularly, I had to change schools. I was in a school where there was no lift. So, there was no wheelchair access, so I had to change schools. And then, I shut myself up in a shell.”(Female, 11 years old, school)
“I had to redo my school year because I had a follow-up in the rehabilitation Centre, so I was a year late.”(Female, 18 years old, school).
|
Care course
|
Oral care course
|
“They didn’t understand why the gums recede, why my teeth die quite often … we have to re-explain each time.”
“It’s months and months of suffering, months of not believing, months of trying to explain a disease they didn’t know about with supposedly healthy teeth.”
“The dentists didn’t believe me… And no matter how much I explained to them that I had spontaneous dental necrosis PF. Once, I went to 15 dentists… I couldn’t work anymore; it’s really disabling because you can’t have a life anymore.”(Female, 61 years old, invalidity)
“They started pulling my teeth and they realized that it wasn’t a good principle and I… I’ve been to a lot of dentists in my life. Apart from offering me treatment or treating the cavity or … they didn’t understand. I could explain that I had a genetic disease, but dentists don’t look at it like doctors do, they don’t look at the disease at all.”(Female, 36 years old, employed)
|
|
General care course
|
“My mother had taken me to all the hospitals, no one knew about the disease and so they said they had to come back when I was finished growing and operate on me.”( Female, 11 years old, school)
“I was dragged from Lyon, Marseille, Paris, I went to a lot of places and they put me in a center, they spread my legs, they put me in plaster casts, they did a lot of tests. There was even a surgeon who wanted to remove my hips and put on plastic hips. It was all and then nothing. Everyone wanted to get my case to say, ‘Yes, I discovered a case.’(Female, 52 years old, employed).” The doctor treating me doesn’t know about this disease, in fact, there are many doctors … it’s a rare disease so they don’t know about it".(Female, 11 years old, school)
|
Feelings about oneself and others
|
Recognition and gratitude
|
“Thanks to this doctor who defended my case in commission, and I was able to continue working.” (female, 53 years old, invalidity)
“I am happy to be followed by a dentist who knows a little bit about pathology, and he is super careful, he doesn’t hurt compared to other dentists, no, no… I prefer to take 1 hour to come here and have a good dentist.” (female, 61 years old, invalidity)
“The service is very good, we have the direct mobile numbers of the doctors, it’s not everywhere. We’re great, we’re really lucky. And even, during the holidays, I needed to call because she had toothache, she made sure to find us a doctor, it’s great, it’s rare, we are really lucky to be here.”(Female, 11 years old, school)
“Here I feel really listened to and above all, I am informed about the consequences of the disease and this allows me to adapt my lifestyle.”(Female, 11 years old, school)
“Here I feel like I’m on another planet. I come here, they tell me about rickets normally, they tell me that there are solutions, they know what it can produce in my mouth and everything, I’ve never heard that. I don’t feel like I’m crazy.” (female, 48 years old, academic)
|
|
Self-esteem
|
“I was always very self-conscious about my size so I was all dressed up when I went to work and anywhere else for that matter.” (female, 61 years old, invalidity)
“If I don’t have anyone coming to see me, I don’t open my shutters all day, I cry, I just do it.” (Man, 19 years old, unemployed)
“If you ask for someone to do your washing, then already psychologically it’s very hard and well, everything goes with what.”(Female, 37 years old, military)
“But before, I had to turn around to see if there was anyone behind me, so that no one could see how I was walking.”(Female, 18-year-old school)
“Well, when I was at school, people didn’t necessarily understand. So … especially because you could see it because I had bowed legs, unlike my sister, you can’t really see it, but I could really see it and I was teased.” (Female, 18 years old. school)
|
Attitude and Behavior Towards the Disease
|
|
“I never accepted the disease. Morally, it destroyed me.”(female, 61 years old, invalidity)
“Morally, you are… I have never accepted the disease. Morally, it destroyed me.” (Female, 61 years old, invalidity)
“But as I grew up, even before I had the operation, I understood that it’s something you can’t choose, and I grew up with it and I ended up accepting it on my own.” (Man, 19 years old, unemployed)
“I’ve always loved humans, so I’ve never really had any… I’ve always loved humans, so I’ve never really hated them, but it’s true that I’ve often put myself in the background to avoid talking and smiling stupidly when you know very well that things aren’t going well, that all you want to do is go out the window.” (female, 37 years old, military)
“Teeth are a drag on your life. When you fight tooth pain, you can’t fight it, because I’ve got two broken femoral necks, I’ve got fractured neck bones, you can’t fight pain anywhere else and like dogs biting you everywhere.” (Female, 52 years old, employed.)
“I’ve always lived with pain, so I’ve dealt with it.”(Male, 47 years old, nurse)
|
Table 3 Examples of extracted codes, subcategories, and categories