By Dr. Anne Chld MD FRCP
Recently a 44 year old man with Marfan syndrome rang for advice as he was so tired at work, that he was falling asleep at his desk and in danger of being fired from his position. General advice in this situation, which can occur in both children and adults, was provided to be shared with his GP and employer. As a result, we thought it would be useful to share this advice to the wider Marfan community and beyond.
Despite normal intellectual and gross motor development, Marfan syndrome patients often do not perform to the best of their ability because of physical limitations: short sightedness and loose joints as well as easy fatigability, limit physical activities and occupational choice. Fibrillin-1 deficiency, which causes Marfan syndrome, in fact plays a role in easy fatigability, since it is a component of tendons and ligaments as well as muscle.
In addition, our psychological studies show that children with Marfan syndrome tend to keep their worries to themselves, resulting in withdrawal, physical complaints, anxiety and depression. Thus patients are significantly burdened by their disease in terms of its effects on day-to-day life, education and career opportunities. They experience higher rates of depression than others of the same age.
Sometimes sleep is badly disturbed by sleep apnoea (disturbed sleep during the night, with varied breathing rates and resultant early morning fatigue due to lack of sound sleep). This can be diagnosed at a sleep study centre where treatment may be provided. There should be one in your nearest large general hospital. Failing that, referral to an ear nose and throat surgeon for assessment may help if an obstruction is found, and can be remedied.
Suggestions for Management by Patients
- Fatigue can be a problem especially when long periods of concentration are required. Learning to pace yourself and working within your own comfortable timescale can relieve the pressure
- Ideally, the patient should live close to their work and not spend exhausting time commuting
Suggestions for Collaborative Management by GPs and Employers
- Understanding the situation is not completely in the patient's mind – fatigue, pain and anxiety/depression are difficult to quantify
- A period of sick leave for further investigation, assessment of sleeping activities, psychological support, and review of medication should be permitted
- Greater understanding of the physical and mental features of Marfan syndrome can be aided by reading relevant literature
- Referral to the local Regional Genetics Unit (Marfan syndrome clinic) should establish Marfan syndrome diagnosis and provide the patient with regular follow-up
- Review of the patient’s work pattern to include study of desk and surroundings, with customised chair and desk if the patient is tall and does not feel comfortable. A special desk and chair may need to be provided by the employer
- Regular break periods should be allowed, and gentle outdoor exercise during peak light hours may counteract the tendency of some patients to suffer from Seasonal Affective Disorder (SAD) which is worse in the dark months in the UK. If this is a possibility, purchase of a light box could be considered. For more info. visit http://www.sad.org.uk/
- Working part-time or working from home occasionally, if this is possible, may make the job easier to manage
- All patients find psychological support helpful.
Your GP should oversee this programme of assessment and management. More information about Marfan syndrome management can be found here.