FSHD: It’s not just about muscles.

For people with FSHD it will come as no surprise that this condition effects more than just muscles. Progressive muscle weakness leads to massive changes in the way people live their lives impacting how they get around, how they complete daily activities, whether they can work or care for children.

While this may seem logical there is actually very little known about the burden of FSHD. The variability in presentation and lack of research means we don’t really know how people with FSHD experience the disease and what affect this has on their lives. This information is important. When someone gets a diagnosis of FSHD they need to be able to plan for their future. Will they need to move into an accessible house, will they be able to work and for how long? Information on burden can also help tailor management programs that includes all services people with FSHD require.

A study from Amsterdam in The Netherlands has provided some of the first evidence of personal burden of FSHD.(1) This study is what is called a ‘qualitiative’ assessment, essentially, instead of measuring how much something is experienced they looked at the ‘what’ is experienced and the ‘why’.

In the study most people said their diagnosis was a relief, particularly for those who had experienced a long search for answers. In addition, a diagnosis provided a level of legitimacy for their condition in their own eyes, and also those of family and colleagues. However, in spite of feeling relief and legitimacy associated with receiving a diagnosis, acceptance of FSHD was still difficult. The lack of control over deterioration, having to deal with constant adjustments required to cope with progressive weakness were particularly challenging for people. People in the study also reported that the loss of control over facial expressions was very negative due to a reduction in non-verbal communication and the fact that it is such a visible sign of FSHD.

All of the people in the study singled out fatigue as a significant issue that limited their ability to get through the day.

Many commented on changes in relationships with their partner especially as increased disability placed increased burden on their relationship. Although, most of the participants commented that they were able to handle this quite well. The slow progression of FSHD for the people involved allowed them time to adjust to a new way of life that included disability.

Participants in the study reported postponing the use of mobility aids. The decision to use an aid is essentially a decision to accept the new physical limitations imposed by FSHD. Many participants struggled with acknowledging their new situation. Socially, participants reported that using mobility aids made people treat them differently adding to the reluctance to use them.

The final aspect explored in the study was work. Most of the people in the study reported that they had to make adjustments to how they structured their work day. Some had to make radical changes to work such as changing their job or hours or giving up work entirely. Most of the people in the study were not working and these people reported that the decision to stop work was very difficult and initially associated with a feeling of loss. However, they also reported that stopping work was a relief and once they had left paid employment they were able to engage in other activities. So overall the decision was positive.

What is the significance of these results?

Having empirical evidence of the burden of FSHD is important for a number of reasons. This study shows there are a number of experiences that are common to all people with FSHD. Being able to communicate these shared experiences to people soon after diagnosis removes some of the uncertainty from FSHD allowing them to make plans.

This evidence provides some direction for support services enabling the care team to plan management.

If you think about the big picture, evidence that FSHD is a significant burden to people with the condition and their families provides legitimacy for people lobbying for more support from government and non-government sources.

What is your experience?

Do the points raised in this study resonate with your experience of FSHD? Have they missed anything out? Do you have a different take of FSHD and how it affects the way you live your life?

Email your stories to admin@fshdglobal.org. We will collate them to paint a picture of FSHD in Australia.

1. Bakker M, Schipper K, Geurts AC, Abma TA. It’s not just physical: a qualitative study regarding the illness experiences of people with facioscapulohumeral muscular dystrophy. Disability and rehabilitation. 2016:1-9.