What to do After You’re Diagnosed with Fabry Disease

What to do After You’re Diagnosed with Fabry Disease

When you’re diagnosed with Fabry disease, it’s common to be surprised and frightened about what this means for your quality of life and your life expectancy. Keep in mind that symptoms can largely be kept under control with proper management using available treatment options.

Here are a few practical tips to help you after a confirmed diagnosis of Fabry disease.

Don’t panic

Understanding the results of your diagnostic report will help you to deal effectively with the disease. Discuss the meaning of your results with your doctor, and any lifestyle changes that can help you cope with and manage the disease.

Work out a treatment plan

A treatment plan can be a helpful tool during the course of therapy. It typically contains information about the nature of the disease, your symptoms, side effects of medications, and the costs you would likely incur at different stages of treatment.

Work out a proper treatment plan in consultation with your doctor and make sure to keep it up-to-date.

Record changes in symptoms

The severity of symptoms changes as Fabry disease progresses. For example, do you notice changes in your bowel movements, kidney function, or skin? Record and discuss these changes with your doctor so that the effectiveness of ongoing treatments can be assessed and any necessary modifications made.

Get your heart checked regularly

Heart complications are common in Fabry disease patients and can become life-threatening if not dealt with immediately. Discuss with your doctor any heart tests that you may need, and ensure you get them done according to schedule.

Network with others

Although Fabry disease is rare, remember that you are not alone. Our website offers news and information about ongoing research and clinical trials.

You can also network with other patients through organizations such as the Fabry Support and Information Group, National Fabry Disease Foundation, and Fabry International Network.


Last updated: Oct. 11, 2019


Fabry Disease News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.

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Özge has a MSc. in Molecular Genetics from the University of Leicester and a PhD in Developmental Biology from Queen Mary University of London. She worked as a Post-doctoral Research Associate at the University of Leicester for six years in the field of Behavioural Neurology before moving into science communication. She worked as the Research Communication Officer at a London based charity for almost two years.
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