Caring for a child with mucopolysaccharoidosis (MPS), including Sanfilippo syndrome, can affect all dimensions of a family’s life, yet parents gradually find ways to cope with the difficulties brought by the disease into their lives, an Irish study reports.
In the study, carers spoke of the impact on their own well-being, their concerns about the future, and the challenges they face with healthcare services.
Children with MPS and their families cannot anticipate a lifespan, as there is yet no cure for this progressive condition. Treatment is exclusively palliative and may extend over many years.
Most of what is known about MPS is focused on the disease’s manifestations, processes and underlying genetic causes, rather than parents’ experience of living with and caring for a child with such a condition.
In a few small studies, parents have reported a devastating experience and a heavy burden on their lives due to the child’s severe behavioral and physical symptoms, “as well as the progressive nature of the condition itself,” researchers said.
Many rare diseases’ national strategies across European member states highlight the importance of “engaging and involving patients and their families in research and incorporating the patient and carers’ voices into the policies and services that affect them,” they said.
But despite recent therapeutic advances, such as enzyme replacement therapy (ERT) and bone marrow transplant, there are still little data on families’ experiences with a rare disease such as MPS.
Knowing parents’ perspectives is important to “make their lives more understandable to the wider healthcare audience” and inform governments to take action and provide the best care possible to families.
To gain a deeper understanding of families’ experiences, a team of researchers from the University College Dublin School of Nursing, Midwifery and Health Systems and All-Ireland Institute of Hospice and Palliative Care studied parents’ perspectives and the impact of living with and caring for a child with MPS.
The study included eight parents of children ages 6 months to 22 years with MPS disorders who had attended the Irish National Centre for Inherited Metabolic Disorders. Their children had MPS I (Hurler syndrome, Scheie syndrome), MPS II (Hunter syndrome), MPS III (Sanfilippo syndrome) or MPS VI (Maroteaux-Lamy syndrome).
Researchers interviewed the participants three times over a 17-month period.
The main themes identified during data analysis were: living with MPS; living with a genetic rare disease; the stigma of a rare condition; MPS as encompassing multiple diseases; unknown future; hospital versus home; the experience of waiting; a tough road ahead, and day-to-day life with MPS.
Living with MPS
Some parents stressed the importance of positive thinking and focusing on the good things, which demonstrates the “use of reframing strategies” whereby parents replace “negative emotions with positive affirmations,” researchers said.
Expressions such as, “I have always remained positive,” “We are always proactive in MPS,” “It is a battle,” and, “You are on a roller coaster,” defined parents’ experiences with their child’s MPS.
Parents’ experience of having a child with a rare genetic disease was described in terms of “devastation, guilt, and concern” about the child’s ability to fully engage with life, researchers noted.
Some were also worried about neglecting their healthy children because they had to focus on the ill one. “Yes, it is like having two lives and trying to balance them in the one house at the same time,” one parent said.
Most families said they had difficulty in obtaining a diagnosis for their children, and described their journey as long and uncertain.
They also felt their children were looked at by the general public in a stereotypical and negative way.
A parent said that “people stare at children a lot, and they look at him funny. Kids can be OK; it is adults that are worse.”
Researchers said it was clear parents felt the need to protect their children from society and tried to treat them as they would any child.
MPS as encompassing multiple diseases
Families also recognized the different types of MPS, and spoke about their awareness of the variety of physical and mental manifestations.
The family of a child with Sanfilippo syndrome compared the child with children who had other types of MPS: “[P]eople with MPS6, 4 and 1, they can join the conversation from early years up until the later years, adulthood, and join in the conversation and even some of them have a drink and all. Whereas we go from dealing with a very hyperactive child to progressing into a child who can’t speak, no understanding and is 24–7 dependent. So you lose out in a big way. It is all MPS, but totally different diseases.”
Families also described their worry and uncertainty about their children’s future, together with the feeling of having a tough road ahead. “No man’s land” or “future is unknown” were common expressions used.
“[Y]ou worry every time you go to see a doctor because you don’t know what they are going to find or not find,” one parent said.
They also talked about how living with MPS can be a source of stress to couples. One couple separated following the child’s diagnosis.
Families also preferred to be at home rather than in the hospital, saying that at home they can create routines and structure their daily life. For example, they favored home ERT compared with receiving it at the hospital.
They also advocated for the creation of a dedicated space for rare diseases, such as a center of excellence, to facilitate education, training, and research.
Families complained about difficulties with the health system, including a lack of coordination among hospitals in things such as sharing exam results.
Providing a voice
The frustration of having to wait a long time at many points along the way — for a diagnosis, to get a medical card or wheelchair — and of having to deal with too much bureaucracy was also emphasized.
Most also disapproved of a diagnosis of MPS being given over the phone.
Researchers suggested that future studies should look at how the patients perceive themselves, how they cope with stigma and engagement with services, and how they feel about the therapies.
Healthcare providers should also be heard from to complement and extend the scope of this study’s findings, they said.
“This study provided a voice to the Irish parents of children with MPS,” researchers said. “It brings to light the uncertainty, sorrows, and everyday challenges faced by these families, and hopefully will improve the care and support for them through the many months and years of their child’s illness.”