Data analysis revealed several personal, provider and health system barriers to and/or facilitators of effective disease management. Risk perceptions and acceptance of the genetic link to cancer influenced individuals' ability to adjust to their carrier status and accept recommended regimes. Despite the importance of risk perceptions and acceptance, interactions with the health care system and providers clearly affected overall adjustment.
The most important personal factors were emotional and psychosocial states, physical health status, prior experiences with cancer screening and/or treatment, and accepting the need for prophylactic interventions. These factors are categorized as risk perceptions and decision-making, and enduring screening/disease management.
Risk perceptions and decision-making
Risk perceptions play a crucial role in motivating individuals to become involved in disease management. A meaningful balance must be forged between the cognitive and emotional spheres for decision-making. Full engagement seems to be highly contingent upon emotionally accepting potential threats to the self and understanding the benefits of ongoing monitoring and timely interventions.
Participants spoke about the emotional and physical challenges of living with Lynch syndrome. Despite understanding the importance of following recommended protocols, the burden of dealing with this disease can be overwhelming.
Like I can sit here and say to you, 'Oh yeah, all the knowledge in the world, it's great to know. But look at it from the human part of it, your own self going through this every single day'. Every time someone goes to a doctor, my crowd is like, 'Who is next, right?' It gets to you after a while. [I10, Fam3A]
All participants echoed the importance of screening while being ever mindful of the challenge of living with high cancer risk. Only one participant had not engaged in cancer screening following a positive genetic test result. However, not all of the participants were participating in the full scope of cancer screening and/or adhering to recommended intervals. Oscillating cognitive and emotional forces impinge on individuals' willingness to become fully involved in the process.
Although some participants had misgivings about knowing their status, these doubts soon subsided when screening detected cancer. Several individuals alluded to the potential benefits of regular screening.
I started seeing [gynecologist] on a regular basis. I was constantly being screened; it [uterine cancer] was picked up. I had the Pap smear and then the endometrial biopsy and both of that came back abnormal. It [cancer] was just in the early stages. [I37, Fam7]
Participants also recognized the need to accept and assume responsibility for healthy living and self monitoring for signs and symptoms of an impending illness. Some perceived this as critical for disease management.
Since I found out that I have the gene, I try to eat a little better and ... exercise a little better. You watch for things and you're a little more conscious of the things you're putting in your body. [I26, Fam1B]
How well individuals adjusted to the burden of the disease had important implications for their willingness to follow recommended guidelines. Everyone who accepted having Lynch syndrome recognized the benefits of disease management. For some, the motivation to do so was enhanced following early cancer detection.
Enduring screening and disease management
Participants often experienced conflicting emotions about knowing what had to be done, wanting to do it and actually doing it. For many, scheduling appointments and waiting for diagnostic test results became physically draining, time consuming, and burdensome.
Successful adjustment seemed highly contingent upon living as normal a life as possible without being constantly reminded of cancer risk. The anxiety and worry associated with the probability of cancer detection created emotional barriers that impeded actions, forcing some to use "time out" periods.
I'm after falling off the wagon a bit, where I've had a couple of surgeries. ... I couldn't do one test because I was doing something else. ...Then after one of the surgeries, I guess you kind of reach your tolerance level. It was a conscious decision. ...I just had to give it up for a while. [I9, Fam2A]
Participants relayed stories of endurance and perseverance. Although the full scope of physical and emotional difficulties was individual specific and time dependent, many commented on the challenges of regular screening. Even when highly motivated, the emotional strain of upcoming procedures can be quite burdensome especially when prior experiences evoke unpleasant memories: "It's just as well to tell the truth, I cry. I'm weeks before thinking about it and I'm dreading it. I'm dreading the day that the test will come." [I37, Fam7]
For many participants, the type and frequency of screening protocols and recommended prophylactic interventions increased with evolving knowledge and/or emerging cancer patterns within the family. The increasing demands often became a struggle:
"It [screening] is cumulative and I find more and more. I don't dwell on it, but it's changing and I find I'm really, really sick of having to have this..." [I34, Fam8]
Ongoing disease management requires adequate resources to support everyday living. The significance of this for any one person can be influenced by their financial status, family responsibilities and employment history, among others. For many, accessing appropriate cancer care involves having the means and willingness to travel outside of their communities, taking time off work and/or having adequate support to deal with family responsibilities. Practical issues are important because they may interfere with one's willingness and ability to access recommended screening/treatment.
I'm a year in the hole on my sick leave here now. So if I got a flu or anything like that, I can't just stay home. Every appointment [for diagnostic tests], where I'm running to town is over so many hours ... it is sick leave. Then I had surgeries where you take off six weeks. [I9, Fam2A]
When early stage cancer is identified, physical and psychological benefits occur immediately following treatment. These benefits may not be so obvious for individuals asked to consider prophylactic surgery in the absence of signs and symptoms of disease. Female family members are encouraged to have prophylactic hysterectomy and bilateral salpingo-oophorectomy because of their high risk for endometrial and ovarian cancer, especially when parents or sisters have had these cancers. In the current study, four women had prophylactic surgery without having symptoms of disease whereas another two had hysterectomies for benign gynecological disease.
The "present" for many participants reflects a story of survivorship and endurance. It was apparent from listening to their stories that the burden of screening/treatment sometimes became a deterrent to continuance. This burden was augmented or lessened by the scope of family and work responsibilities.
The perceived knowledge and skills of health care providers surfaced as key factors facilitating or impeding participation in regular screening and disease management. Participants wanted to receive care from physicians/specialists familiar with their family cancer history. Trust seemed to increase when physicians were intimately aware of the family history and acknowledged the importance of monitoring high risk cancer sites.
When you get a doctor like that [open and engaging] it means something because you don't feel like you're just a number, like they know you personally. They seem like they care and you don't come across too many like that. I felt like a number for so long. [I27, Fam3A]
Most disconcerting for participants was the perceived tendency for some physicians to discount age of onset of first cancers in families as a benchmark for screening initiation and follow-up. When physicians failed to do this, participants distrusted their knowledge: "The problem is they are young and because they are young the doctors aren't testing [screening] them properly for bowel cancer. Not testing them early enough. They're not realizing that even now after all this." [I23, Fam1B]
Integral to effective monitoring is having knowledge of the natural history of the disease. Following encounters with physicians who seemed to have limited understanding of Lynch syndrome, some participants felt the need to become better informed and share this knowledge with them.
Every time I go to him [physician] I say, 'Now do you know that these lesions are sometimes flat? ...Don't look for bumps. Look for these flat lesions which are the Lynch II'. Even now I don't know if he hears me. Because they'll always talk about removing polyps and I don't know if that's set out enough in the literature. [I20, Fam2B]
Similar concerns were expressed about physicians not perceived to be attentive enough to the extracolonic cancers.
It would be nice if we knew it was being monitored and we were all getting the proper checks. But not only just for bowel. I mean they do a colonoscopy, that's not going to show if you have anything in your ovaries or kidneys or anywhere else. [I23, Fam1B]
From a clinical management perspective, participants assessed physicians in terms of the completeness of medical care and quality of communications. Medical care was evaluated by the thoroughness of history taking and physical examinations. If unsure about a physician's approach, participants felt the need to enlighten them.
Unless you can tell a doctor what is wrong with you he can't see through you and know, unless you recognize symptoms yourself. Gone are the days when ... they [physicians] do a complete physical and chest x-ray. ...They don't look at it [cancer] as coming from a history. [I32, Fam2A]
Quality of communications was defined in terms of effective interpersonal skills. Participants wanted providers who were sincere and took the time to facilitate understanding. Some commented on the limited communication of an informative nature and the lack of perceived support: "When I go for a colonoscopy, it's the quicker you're in and out the better. It's no such thing as sit down for any discussion. We got no support system." [I25, Fam1B]. Other participants presented a contrasting perspective.
When they found things that he [specialist] has been suspicious about, he showed me the pictures and he sits down. 'This is what we are going to do'. ...So he's always been very informative. ...I appreciate that, I want that honesty. ...So I can be actively involved with what happens to me. [I21, Fam2C]
In essence, living with Lynch syndrome is an independent journey that requires being attentive to physical changes, appreciative of their implications for future health, and assertive about receiving care from knowledgeable, caring providers.
Health Care System Barriers/Facilitators
Continuity of care at the provider and system levels seemed to pose great difficulty for participants. Continuity of care is dependent upon continuous information flow (disease and person-focused), strategic coordination of services (complementary and timely), and accessing a consistent provider mix over time. Restricted continuity of care can play havoc with successful disease management.
Especially vital is ongoing collaboration among primary and specialty care sectors during the planning and delivery of services. As the number of diagnostic procedures and potential cancer sites increase, there is a concomitant increase in the number of specialists involved in providing care and, thus, the greater potential for inconsistencies in recommended screening intervals. A couple of participants voiced their frustrations following interactions with different aspects of the health care system: "But my family doctor argued that it [colonoscopy] should be every year. I feel it should be done every year. Every three years the [specialist] wants it done." [I38, Fam7]; "I haven't been done since two years ago. That extra six months could mean a lot to me. So what am I supposed to do?" [I27, Fam3A]
Study participants were of the opinion that poor communication among providers could be detrimental to a person's well-being, quality of life and, ultimately, long-term survival. An important message conveyed is that greater consensus is needed on acceptable screening intervals and targets, especially in families with a higher than usual penetrance rate for CRC and associated cancers.
Participant comments also conveyed a vivid picture of limited organization and coordination of health care. Individuals confront challenges navigating the health care system particularly when having to deal with different institutions and physicians/specialists. At times, this requires a tenacious, persistent approach and a working knowledge of the system.
Every six months I ... have the ultrasound done. ...Then I have to make an appointment to see the specialist ... for what? It is a negative ultrasound. Then you're supposed to ... get another ultrasound but they can't get an appointment set up that far in advance. ...then you need a requisition. [I9, Fam2A]
Everyone echoed the need for a more coordinated approach that lessens the demands on personal time and coping resources. One participant commented thus, "I would like to have one stop shopping. It seems like I am running around doing all this and I don't want this. I don't need this." [I4, Fam6]
Timely access to services can become a major liability, with delays especially upsetting for individuals subject to heightened uncertainty and worry. Participants suggested that carriers should be given priority access to screening and specialty services.
After I had my operation [for colon cancer] I phoned up for another appointment [with specialist] and they told me that it could be another six months before I get in and my year was up then right. ...So I phoned the doctor that operated on me and I got in within two weeks. ...I was frightened right. [I31, Fam1B]
Despite being aware of requisite health care services, system challenges often prevented participants from 'being ahead of the game'. Especially critical is a coordinated system of care which provides timely access and follow-up. Without adequate resources, individuals are at greater risk to be burdened by the disease.