Information for Parents

If you have a child with Fabry disease, you may be concerned about family planning, wonder how to look for signs of Fabry disease in your child, or worry about telling your children or their teachers about Fabry disease.

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If you have Fabry disease, medical genetic counselors and other health care professionals are invaluable resources for helping you with family planning. Click here for more information about genetic counselors.

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If you or your spouse has Fabry disease, or if it is present in your family, it is important to look for signs and symptoms of the disease in your children. Remember, the earlier the disease is diagnosed, the earlier your doctor can begin managing the symptoms.

It can be difficult to recognize some of the symptoms of Fabry disease in children. Often, these symptoms are attributed to other factors or diseases. For instance, it may be possible to attribute a child’s fatigue to lack of sleep, his or her unwillingness to participate in sports to lack of interest, or his or her episodes of pain to growing pains.

Common childhood signs and symptoms that may suggest Fabry disease include:

• Sudden, intense episodes of burning pain (pain crises)
• Persistent pain in the hands or feet
• Recurrent fever
• Intolerance to heat or cold
• Impaired sweating
• Psychological and social issues

The symptoms of Fabry disease are not the same for everyone. Some may have all of them, others may have only a few. If your child has one or more of these symptoms, and you know of or suspect Fabry disease in your family, you may want to consult with your doctor.