Communication regarding breathing support options for youth with Duchenne muscular dystrophy

Abstract

BACKGROUND:

Ventilators for home use, manual and mechanically assisted coughing techniques, and the services of in-home respiratory therapists are options for youth with Duchenne muscular dystrophy (DMD). Evidence supports the use of these modalities, but there seems to be few youth who are receiving these therapies. Is there a knowledge transfer issue? Is there a lack of resources? What is the best way to discuss the issues? What do youth and parents want?

OBJECTIVE:

To determine practices, attitudes and beliefs regarding the timing and content of client/family communication related to ventilatory support decisions for individuals with DMD.

METHODS:

A questionnaire was sent to all 19 children’s treatment centres in Ontario. The lead clinician responded on behalf of his or her centre. Another questionnaire was given to 11 families who attended a parent support meeting.

RESULTS:

Respondents from the treatment centres who provide services for youth with DMD indicated that there are resources in terms of personnel and an obligation to provide information about ventilatory support, but provision of information is often late and/or inconsistent. The family respondents wanted more information and they wanted it earlier than they are currently receiving it.

CONCLUSIONS:

Parents and youth dealing with DMD have many resources at their disposal in Ontario. The evidence is clear that there are long-term health benefits to providing ventilatory support as well as instruction in coughing assistance. Due to the classical nature of disease progression in DMD, information should be provided within reasonable timelines.

Twenty-year-old Mitchell (name changed) appeared in front of his mother one morning and mouthed to her, “I can’t breathe”. He had to repeat himself because she did not initially understand. When she realized what was happening, she called 911 and then began cardiopulmonary resuscitation. He was taken to the nearest intensive care unit where he underwent a tracheostomy and was put on a ventilator. Mitchell and his mother were involved in their first discussion about ventilation that morning. They were told that it would be permanent. We do not know the specifics of their discussion, but Mitchell’s mother reported that his response was a request to ‘pull the plug’, and that is how his life ended.

One of the authors had known Mitchell since he was four years of age; had watched this hyperactive little boy run and stumble, then struggle to his feet; had watched his mother carry him up three flights of stairs to their tiny apartment; and had watched him ‘graduate’ from a manual wheelchair to a powerchair with tilt. Through it all, he had been amazingly healthy, so his quick death was, and remains, a shock. The process was not questioned at that time, but we did gradually came to question it and began a search for answers. The literature shows that breathing support options can enable some individuals to regain a measure of control in their lives, which have been extended meaningfully – for them and for those who love them.

The progression of Duchenne muscular dystrophy (DMD) is predictable. The timeframe varies, but it progresses for others just as it did for Mitchell. Although mobility changes are very apparent to the children and their families, the weakening of the inspiratory muscles and the abdominals, which provide the power for a productive cough, is not as apparent. This weakening happens more insidiously because as boys become less active, they do not stress their cardiovascular and respiratory systems as they once did. Those who manage the health of these boys must be aware of the potential issues in facilitating access to the interventions that provide foundations for proper care of DMD patients including health maintenance. Proper monitoring of disease progression and complications provides anticipatory, preventive care and optimum management (1).

The most common cause of death in DMD is respiratory failure (2). The failure often occurs during otherwise benign upper respiratory tract infections. Bronchial mucous plugging, and progressive weakening and fatigue of inspiratory and expiratory muscles compromise the already severe pulmonary dysfunction further (3–6).

In some settings, health professionals are taking a proactive management approach to breathing support options and offering non-invasive positive pressure ventilation to clients with early signs of hypoventilation (4); using breath stacking to maintain and increase vital capacity; teaching cough assistance; and working on secretion management (6,7). The benefits of a proactive approach seem to be significant. Decreased hospital admissions have been noted (6). Konagaya et al (8) reported a median survival time of 31.0 years with noninvasive ventilator support, compared with 20.4 years without ventilation. Similarly, Jeppesen et al (9) showed longer survival with noninvasive ventilator support, with the 15-year postdiagnosis survival increasing from 51.7% to 76.5% and 20-year survival increasing from 41.3% to 66.6%. Positive changes in psychosocial functioning and mental well-being have been reported (6,10).

Despite these positive outcomes, the literature also reveals a significant reluctance on the part of physicians to discuss ventilation with their patients. If they did have discussions, the physicians admitted difficulty presenting the information in an unbiased manner (11–14). The reasons cited included perceptions of poor quality of life, inadequate home environments, insufficient home care support, poor cognitive function, burden on the family, prolonged suffering and a prolonged death. Gibson (12) reported that 25% of surveyed Canadian physicians did not discuss ventilation with their patients at all.

Many patient, parent and physician values, wishes and beliefs can compromise good communication. The literature exploring the factors that influence good communication between youth, parents and health care practitioners cites a range of factors potentially faced by adolescents with DMD (15). These include features of the encounter (hurried, inconsistent practitioners), patient factors (age, privacy and fear), physician factors (behaviour toward patients, use of medical terminology, condition-centred versus person-centred approaches to care and perceptions about quality of life), parent presence (inhibitive or supportive) and type of information required (intimacy of the issue, prognosis, negative consequences of asking particular questions such as “will this lead to hospitalization, limitation to activity/behaviour or more negative information about their health”) (15). The need for health-related information and for effective communication with doctors and other health professionals are major concerns for adolescents with DMD; however, their knowledge about their own condition and its management is often superficial and incomplete (15). Because DMD is often diagnosed in early childhood and progresses through adolescence and young adulthood, the level of detail to be presented and discussed with the patients and families changes over time, and information must often be revisited.

Parental coping style will also influence communication regarding ventilation. The stress caused by the psychosocial problems of their child may exceed the stress associated with the physical aspects of the disease. There will be varying degrees of parental hope for a cure within their son’s lifetime, avoidance of information and one-day-at-a-time coping strategies. Erby et al (16) reported that most parents want information and counselling regarding life expectancy. Health care practitioners perceived that such services were already being offered, whereas family members agreed that such services were lacking.

In 2004, the American Thoracic Society published guidelines for respiratory care of the patient with DMD (17,18). They advocated for noninvasive respiratory management, mechanically assisted coughing, multidisciplinary care and strong support of the family including the provision of information about respiratory support options at optimal times. There is no doubt that DMD is a tragic condition and the worst nightmare for parents as they watch their son become gradually weaker. There should be concerns that major management decisions might occur if there is no communication with the youth and family, or that decisions regarding ventilation options could be rushed, possibly in an intensive care unit, or worse yet, that the patient and family never have an opportunity to give input.

The purpose of the present study was to determine practices and attitudes/beliefs regarding the timing and content of client/family communication related to breathing support decisions for individuals with DMD in children’s treatment centres in Ontario. This information is necessary to guide the development of best practice guidelines for a client-centred model of communication about ventilation options that will respond to the progressive nature of the condition in a manner that would maximize the potential benefits.

METHODS

Data were collected from two questionnaires. The first, entitled “Questionnaire on Communication and Practice Regarding Ventilation Options for Individuals with Duchenne Muscular Dystrophy”, addressed the availability of resources, and the timing, content and rationale for providing information regarding breathing support options for clients with DMD. The instrument was a modified version of a Canadian physician-validated questionnaire by Gibson (12) that was subsequently used in a study by Kinali et al (13), which contained open- and closed-ended questions.

The questionnaires were mailed to 19 children’s treatment centres that are members of a provincial organization of publicly funded outpatient facilities serving children with physical disabilities. Four centres are affiliated with neuromuscular clinics that serve as referral facilities for centres that do not have these services. A letter introduced the study and asked for the survey to be completed by the individual considered to be the lead clinician for the management of individuals with DMD. Responses were kept anonymous to maintain confidentiality. A stamped, self-addressed return envelope accompanied the survey. Mailed reminders were sent to all centres following the initial mailing.

The second questionnaire, an adaptation of the treatment centre instrument, was developed to obtain a family perspective on the same issues. An information session on respiratory function and ventilation options was presented at a regional meeting of a DMD parent group by a respiratory therapist and physiotherapist who were not involved with the clients’ care. Attendees were invited to complete the questionnaire following the presentation and question period. Families were aware of the content of the session, and the option to complete a questionnaire, before the meeting. A physician from the local neuromuscular clinic was available by telephone in the days following the presentation for families with questions or concerns.

The Research Ethics Board of Hamilton Health Sciences and the Faculty of Health Sciences, McMaster University (Hamilton, Ontario), approved the study.

RESULTS

Thirteen questionnaires (68%) were returned from the treatment centres. Eleven of these indicated that they provided services for clients with DMD; six centres saw one to 10 clients, one centre saw 11 to 19, and four centres saw more than 20. All 11 centres involved in the care of youth with DMD provided physiotherapy and social work services. Ten of these centres provided the services of specialty physicians (various combinations of paediatricians, neurologists and respirologists). The remaining centre referred families to a tertiary centre for these services. Nine of the 11 centres providing services for youth with DMD offered various forms of airway clearance techniques.

Four of the centres had clients who received ventilation less than 24 h/day (total n=26) and two had clients who received ventilation 24 h/day (total n=4). These centres plus one other discussed options for long-term ventilatory support with families (Table 1) and used a variety of resources (Table 2). Beliefs/opinions regarding the appropriate timing of both general and in-depth discussions about the options varied. When asked to rank reasons for informing families, the belief that families should make informed decisions ranked highest, followed by an ethical obligation to provide information and, third, the belief that clients could enjoy a good quality of life on ventilation. Generally, centres that did not discuss these topics with families believed that the tertiary care centres to which they referred their clients undertook that role.

TABLE 1.

Preferences for the timing of discussions about breathing supports

Timing of discussion	CTC questionnaires: When is information provided?		Family questionnaires: When should information be provided?
	General discussion	In-depth discussion	General discussion	In-depth discussion
No discussion	6 (55)	6 (55)	0 (0)	0 (0)
First visit	0 (0)	0 (0)	1 (9)	0 (0)
Soon after diagnosis	1 (9)	0 (0)	6 (55)	1 (9)
When:
Respiratory function first assessed	0 (0)	0 (0)	2 (18)	3 (27)
Family asks about it	0 (0)	0 (0)	0 (0)	1 (9)
Changes in laboratory signs develop (eg, decreased FVC or elevated CO2)	4 (4)	2 (18)	0 (0)	2 (18)
Signs of breathing problems develop	0 (0)	2 (18)	0 (0)	2 (18)
Ventilation is needed during a surgical hospital admission	0 (0)	1 (9)	0 (0)	0 (0)
Respiratory failure requires permanent ventilation for life	0 (0)	0 (0)	0 (0)	0 (0)
Dependent on family situation	0 (0)	0 (0)	1 (9)	1 (9)
Other	0 (0)	0 (0)	1 (9)	1 (9)

Data presented as n (%). CO₂ Carbon dioxide; CTC Children’s treatment centre; FVC Forced vital capacity

TABLE 2.

Methods by which information is shared and preferred

Resource	CTC questionnaires	Family questionnaires
	What resources do you provide when you talk about ventilation?*	How did you hear about ventilation?	How would you like to hear about ventilation?
Physician	Not applicable	2 (18)	6 (55)
Websites	0 (0)	2 (18)	5 (45)
Reading materials	0 (0)	3 (27)	6 (55)
Connection with families:
Who have chosen ventilation	4 (80)	1 (9)	7 (64)
Who have not chosen ventilation	2 (40)	0 (0)	4 (36)
Other health professionals	Not applicable	1 (9)	7 (64)
Community agencies	5 (100)	2 (18)	7 (64)
Other		2 (18)†

Data presented as n (%).

^*Five children’s treatment centres discuss ventilation;

^†Televison (n=1) or parent group project (n=1)

Ten families attended the information session. All parents completed one questionnaire per family. One youth from one of the families completed a separate questionnaire. The ages of the clients with DMD in these families ranged from five to 22 years, with a median age of 16 years. All of the families surveyed received physiotherapy and specialty physician services, but only three were connected with social workers. The family questionnaires indicated that eight families had heard about breathing support options before the session. Their preferences for the timing of discussions about breathing supports varied as outlined in Table 1. The variability was reflected in their comments:

I think it would be helpful to receive advice from professionals as early as possible…in our case we found out, I think, a little late about these options, we could have been helping our son earlier than 19 years old.

(19-year-old son)

In the early stages, following diagnosis, we probably would not have been as receptive just because of all the other issues you initially are trying to adjust to.

(22-year-old son)

As the child presents several benchmarks that are extremely challenging for the parents: falling down, stop walking, powerchair etc. As each challenge is met, that is the time to introduce info on the next challenge.

(18-year-old son)

We believe in prevention as much as possible…knowledge is power.

(15-year-old son)

There were various ways in which information was shared and preferred (Table 2).

DISCUSSION

The services of specialized physicians, physiotherapists and social workers (professionals typically involved with communication regarding ventilatory issues) were available from most treatment centres involved in the care of youth with DMD. Families indicated consistent involvement with physiotherapists and physicians, but it was disappointing that so few families within a region were linked to a social worker.

Only five of 11 centres involved with youth with DMD indicated that discussion about ventilation options occurred at all. These included the four centres with attached neuromuscular clinics. Ventilation was first discussed soon after diagnosis in only one centre. Most initial discussions were offered once objective measures of respiratory dysfunction occurred. In contrast, feedback from parents indicated that the majority would prefer general information about respiratory function soon after diagnosis. This can be accomplished in the context of explaining the progression of muscle weakness including cardiac and respiratory muscles.

The timing of sharing in-depth information was more varied: from the time respiratory testing showed compromise, to the onset of clinical symptoms, to as late as when the patient required ventilation during a hospital stay or when admitted for surgery. The challenge faced by the teams in deciding when to provide in-depth information was reflected in the responses from the families, which ranged from when the respiratory function is first assessed to when symptoms of respiratory dysfunction first arise. However, it is clear that families would prefer this type of discussion to occur earlier than the current timing. There is no ideal time, so we suggest the best approach would be to ask families when and how they would prefer to discuss the issue. Given the link between loss of ambulation and decline in respiratory function, this might be a good time to introduce the need for an in-depth discussion. In terms of best practice for professionals working with the families, this time of transition to a wheelchair should prompt a discussion about respiratory function. They can support the family by asking how they would prefer to manage the discussion.

Good communication between a treatment centre and the youth’s neuromuscular clinic, when care is shared, is essential to ensure appropriate support through these transition times. This highlights the role of the social worker involved with the youth and family. It is difficult to discuss the issue of ventilation; however, it is important that families are made aware of the options available to them to ensure that they have the opportunity to make informed choices. Although most families indicated that they wished to be given information about ventilation options early, there are families that do not wish to discuss the issue at all. The concern for these families is that their decision is not informed. Offering regular, brief information at each meeting, preferably in writing, may lead to open discussion.

Although many youth with DMD are quiet and may not be comfortable talking to adults, they should be routinely included in discussions and encouraged to be involved in all decisions. Guidance from the Education in Palliative and End-of-life Care (EPEC) project, Communicating Bad News (19), includes exploring the patient and family’s understanding of the disease process and establishing what they want to know and how they wish to be told. It explores situations in which family members do not wish information to be shared and advocates developing a “congenial alliance” with the family (19).

Physicians and health professionals have an ethical obligation to ensure that families and young people are aware of ventilation options to be certain they make informed choices (20). Both of these issues were a priority for centres discussing ventilation options. The issue of quality of life was rated less highly. However, it is important that personal opinions about the impact on quality of life should not influence the scope of discussion or options discussed.

Limitations of the present study include small sample sizes. The treatment centre sample included only one province. The family sample included families from one region only who chose to attend a meeting focused on breathing support issues. Therefore, the findings may not be generalizable to other settings or all families.

CONCLUSIONS

There is evidence of the value of proactive respiratory management in youth with DMD. However, some professionals are reluctant to discuss or pursue this path despite adequate resources within the health care system. Families reported that they want to know more and they want to know it sooner. The optimal time to communicate information about respiratory health in this population appears to be when one discusses etiology and when families indicate that they are ready to hear more. This would be consistent with the research of Samson et al (21), who noted that when it is possible for an individual to take charge of his existence, there is hope.