A lack of familiarity with spinal muscular atrophy (SMA) type 1 among primary health care staff often makes caring for infants with the disease a stressful experience for families, finds a study that explored how parents perceived various care settings, including emergency, hospitals and clinical care.
The study, “The Experience of Families With Children With Spinal Muscular Atrophy Type I Across Health Care Systems,” appeared in the Journal of Child Neurology. It identified factors that need improvement, including developing better diagnostic screening and medical decision-making tools.
Although no earlier study has looked at parents’ experiences across a range of treatment settings, previous research has indicated that healthcare providers lack an understanding of how to guide ethical decision-making when caring for children with a potentially terminal disease. Providers also do not adequately use the option of palliative care, and fail to explain the role of such care for parents who struggle to understand various available options.
Parents’ negative experiences already begin during diagnosis. Children in the study had all some delay in their diagnosis, most likely caused by the lack of knowledge among physicians about SMA type 1. The average time to diagnosis was 2.5 months, with a range of one to five months.
Some parents reported that physicians did not take their concerns seriously, even referring to babies as “lazy” when muscle weakness was apparent. Many had to voice their concerns on several visits before the physician acted. There were also instances where primary care physicians referred babies to physical therapy to resolve muscle weakness issues. Only when that physical therapy didn’t help were the babies referred to a neurologist.
Families often stated that the diagnosis had been delivered poorly, devastating parents emotionally. Only three of the 19 families reported having a positive experience of learning about the diagnosis.
A large proportion of families — 37 percent — got the bad news over the phone, and all but one of them had a negative experience.
Families said they had a need for a “go-to person,” such as a social worker or a healthcare coordinator, who would make it easier to navigate the various referrals, treatment providers and treatment goals parents encountered.
Parents also said that when they received a proactive care plan based either on palliative care or clearly laid out treatment interventions, it was helpful. Care providers who expressed empathy were also noted as helpful.
Parents of babies born with SMA type 1 naturally want to have a say in treatment decisions that aim to balance quality of life with longevity. All 19 families felt it was important to have a strong parent-expert partnership in the decision-making process.
But this is not always an easy process. Interviewed parents underscored the need to understand treatment options available to them.
They also wanted decisions to be based on their child’s situation, not merely on the presence of an SMA diagnosis or a genetic test result. Parents generally realized that the severity of disease can vary among SMA children, but asked for more information about long-term outcomes.
Even so, parents rarely relied on physicians as their main source of information about SMA. Nearly half turned to other parents of SMA children, 37 percent sought out online support groups, and 32 percent used CURE SMA materials.
Quick decisions made in a critical-care setting placed an additional strain on parents. Twenty-one of the 22 children received some form of intervention, including feeding tubes, ventilators and cough assistance. Again, parents felt they lacked knowledge of risks and benefits of available treatment approaches, and asked for more education on options beyond acute treatments such as ventilation.
Parents often perceived acute care as simply the managing of symptoms without placing symptoms in the context of SMA type 1. Again, this appeared to be caused by a lack of knowledge among care staff.
For instance, care teams would place an infant in a seated position to assist in breathing without understanding that SMA type 1 children virtually rely on their diaphragm for breathing, and a seated posture makes this increasingly difficult. In another instance, staff did not realize that SMA made an infant unable to vocalize pain during blood draws and other invasive procedures.
Parents found it difficult to communicate with hospital staff in general, and perceived staff as unwilling to consult with the SMA specialist to get appropriate treatment recommendations, including prepping for surgery.
Those who reported positive encounters said staff had listened to the family’s values and concerns and supported their choices.
As a result of their study, researchers suggested several quality improvement measures, including the development of a diagnostic screening tool to advise physicians in a primary-care setting when it is advisable to refer an infant to a neurology specialist.
In addition, a medical decision tool could aid in making sound decisions, and an emergency center informational template, which could be individually tailored to a child, could provide staff in an emergency care setting with an overview of SMA type 1.
Also needed: education of care providers and efforts to facilitate communication between medical professionals and parents to improve caring for children with the most severe form of SMA.