the ki ney citizen leading to Fabry disease in that child . In this case both girls and boys would be affected . Since we know how Fabry runs in families , it is easy to figure out who in the family is at risk for Fabry disease and to have genetic testing performed . Through studies , Fabry experts have found that when one family member is diagnosed with Fabry disease , then an average of five of their relatives will also have the disease . Since there is a FDA approved treatment for Fabry disease and we know the earlier treatment starts , the better it works , it can be helpful to know as early as possible . Some people may not know that testing is available or they may feel guilty , angry or scared of the potential test results , but in this case , knowledge is power . It can be useful to talk to a genetic counselor about testing options and decision about testing for genetic disease . You can learn about genetic counselors and find one near you at : www . aboutgeneticcounselors . com In order to make it easier for the family members of someone with Fabry disease to get tested , Emory University and the American Association of Kidney Patients ( AAKP ) have partnered to create the Fabry Disease Family Testing and Education project . Through this project , Emory University offers FREE testing to people who have Fabry in their family and know the change in the GLA which causes the condition . As part of the program , people can also learn more about Fabry disease and available resources . To participate
in the testing program people who would like to test for Fabry disease should talk to their doctor and then , the at-risk person can contact directly Emory and order a saliva collection and testing kit by mail . A kit can be ordered by calling the Emory Fabry Center at 404-778-8518 or by emailing Robin Vinson at robin . vinson @ emory . edu or Dawn Laney at dawn . laney @ emory . edu . In addition to providing the free testing , research from the project has found that family members who have corneal whorls ( easily found by any eye doctor ), pain in hands / feet , decreased sweating , or a purplish-pink rash in the “ bathing trunk area ” called angiokeratomas are more likely to have Fabry disease than other family members .
Are Females Affected by Fabry Disease ? Yes , females do have Fabry disease . At one time , it was thought that they were “ just ” carriers of the disease but did not have any of the symptoms . But now it is known that they can experience symptoms , from mild to severe . Females may not have any or as many symptoms as males because they have two X chromosomes and the one that is working can still produce alpha-galactosidase A . It is important for women to be followed regularly by their doctor even if they have few symptoms since the disease continues throughout life and additional problems may develop .
Do children have symptoms of Fabry Disease ? Yes , children may have symptoms and being a rare disease , it may be difficult to diagnose if no one else in the family has symptoms of Fabry disease . Sometimes children have been told it is “ growing pains ” when they complain of pain in their hands and feet , cannot tolerate heat , or have GI problems , such as pain after eating , nausea , or diarrhea . Boys with Fabry disease typically first have symptoms when they are six years old compared to girls who have their first symptoms around eight years old .
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