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Explaining Fabry disease
Sharing information is helpful for family, friends and work or school colleagues to understand Fabry disease and how it affects someone who has the condition.
Family and Friends
Because Fabry disease is hereditary, it is important to inform other relatives when there is a diagnosis of previously unknown Fabry disease within a family. At-risk relatives who are interested in determining their disease status often obtain a referral to a specialist and, if necessary, undergo testing for confirmation. These decisions may be difficult for family members, therefore a discussion with your healthcare team or counselor before you approach other family members may be helpful. Informing relatives and friends about Fabry disease often helps to build a better understanding of the needs and treatment a patient requires and enables them to become a useful source of support.
School
Children with Fabry disease may feel they are different from their friends or classmates, either because of the symptoms they are experiencing or their inability to fully participate in school activities like sports. Also, they may have to take days off school for hospital visits. If you are the parent or guardian of a child with Fabry disease, explaining the symptoms to your child's teachers will be useful. This should include an explanation of the symptoms, and how physical activities should be monitored to ensure the child is comfortable. In addition, your child may require medication during the school day and may need to be regularly excused from school for hospital appointments or treatment.
For additional information on adolescents and Fabry disease, please see the Adolescents fact sheet.
Work
You may wish to consider informing your work colleagues if you have Fabry disease, as this will help them to understand the extent of your physical capabilities and that regular absences may be necessary for hospital appointments and treatment.
Family Planning
Anyone who has Fabry disease and wishes to start a family may have concerns about passing Fabry disease on to their children.
Your healthcare team will be an important source of information and support as they can advise you regarding available pre- and post-natal testing.
A genetic counselor, if you have been referred to one, can be particularly helpful. They may complete a medical family history to assess the presence of Fabry disease within your family. In addition, they can explain the likelihood of your children having Fabry disease, based on your particular circumstances.
Developing a Support Network
Building a support network is helpful for anyone with a chronic condition, including Fabry, because patients need to feel they are not alone as they cope with their disease.
Many patients look first to their family and friends for support as they often play a vital role in any support network. Discussing Fabry with them will help them to understand the needs of both the patient and his/her immediate family. In addition, healthcare providers may play an important role in supporting a patient's health care needs between clinic visits.
Patients with chronic disease often find it useful to share experiences with others in a similar situation. A number of groups and networks give information and support for people with Fabry disease and their families, including issues related to financial support. Importantly, they also provide the opportunity to exchange ideas and encouragement.
Some of these organizations are listed below:
- Fabry Support and Information Group (FSIG)
- Children Living with Inherited Metabolic Disease (CLIMB)
For links to these support organizations, and additional resources, please see the Resources section. Additional information is also available on well-being and Fabry disease in the Well-being fact sheet.
Self-management
A team of specialists often manages care and treatment for patients with Fabry disease, but there are some things patients and caregivers can do to help manage the symptoms of Fabry disease on their own.
Diet
Gastrointestinal discomfort may be reduced by eating smaller or more frequent meals. As with anyone, a healthy diet contributes to general well-being, and a diet that is low in salt helps to reduce the risk of heart and kidney problems.
Environment
Pain related to Fabry disease is often triggered by sun exposure, sudden changes in temperature, physical exertion or stress. Layering clothing enables one to better adapt to temperature changes and helps to increase comfort, while drinking plenty of water before and after exercise helps to relieve the pain related to physical exertion. As stress is a well-documented trigger for pain and other complications, avoiding stressful or emotional situations should be a priority. This may mean planning journeys and allowing time for relaxation and regular naps.
Work
People with Fabry disease should consider an occupation that best suits their lifestyle. A career that requires a great deal of manual skill, rapid changes of temperature, physical exertion or stress should be avoided. As fatigue is a feature of Fabry disease, one should allow time for rest during the working day.
General Well Being
Illnesses may trigger pain and worsen symptoms, so regular doctor visits to monitor general health are an important part of overall management. As with anyone, it is advisable to avoid smoking and drinking alcohol in excess to help prevent damage to the heart and kidneys and reduce the risk of stroke.
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