Familia Dysautonomia

1)Familia Dysautonomia is an autonomic nervous system disorder that affects the development of sensory whether its sympathetic or parasympathetic in the autonervous system resulting in symptoms like: gastrointestinal problems, bouts of severe vomiting, recurrent pneumonia, altered sensitivity to pain and temperature and unstable heart rate, blood pressure and body temp. FD is caused by mutations in the IKBKAP gene. The disease is inherited to only a child who recieves two mutated copies of the IKBKAP gene (one from each parent) will get the disease. FD mainly affects people with Ashkenazi Jewish ancestry, and the two mutations 23andme provides data for - IVS20+6T>C and R696P - account for more than 99% of cases in this population.

2)Genetic testing can be beneficial in several ways in preventing a disease before it is diagnosed, - knowing what types of diseases you may inherit is always helpful in our daily healthy lifestyle. It may provide a sense of relief from uncertainty and help people make informed decisions about managing their health care.

Some of the disadvantages of genetic testing may be that it affects our civil rights. Yet recieving a negative genetic test can also affect family relations, with many individuals feeling "survivor guilt", for example if they have a brother or sister who has been shown to carry that gene alteration, they may feel guilty at having escaped the increased cancer risk, while their sibling is still at risk. A person may suffer severe depression like symptoms if diagnosed.

3) Yes, I would highly encourage myself and others to undergo personal genetic testing because of the curiosity of what types of diseases I might inherited from my past ancestors. If I do recieve a negative genetic test result, I will keep a positive outcome on the ability to prevent a horrendous disease whether it is avoidable or not.