Familial Dysautonmia is a genetic disorder. A genetic disorder is a disorder that is passed down to you from your parents. For example, when both your parents have brown eyes, so do you! Familial Dysautonmia is similar. It disturbs your automatic nervous system, which is what your body does without you controlling it (Digestion, breathing, tear production, blood pressure, taste, pain, heat, cold, and body temperature).
Familial Dysautonmia is passed on through genetics. It is very rare because it is a recessive gene. Both parents will have to have a mutilation for a child to get Familial Dysautonmia. Some people may have the mutated gene, but not show symptoms of Familial Dysautonmia. It is from a mutation in the IKBKAP gene. Think of genes…show more content… You can be tested for it while your mother is pregnant. Or, you can be tested as a carrier of Familial Dysautonmia. It mostly affects Ashkenazi (Eastern European) Jewish People, 1 in 27 of this ethnic group are carrying it. A carrier is a person who does not show the gene, but can potentially pass it on to their children.
The most prominent symptoms of Familial Dysautonmia include: lack of tears, being short in height, swallowing problems, low weight, drooling, low reaction to pain, excessive sweating, constant changing of blood pressure, curved spine, smooth tongue (lack of taste buds), sleep apnea, and blotchy reddening of skin while eating.
People with FD are much more likely to get pneumonia because their food goes into their lungs instead of their stomachs, to prevent this, many people have feeding tubes that bring the food to their stomachs. People with FD do not have all the bodily functions that people without the disease have. Children with FD cannot have normal lives because of their symptoms. They can go into an autonomic crisis, this means their heart rate and blood pressure changes dramatically, their personality changes, and their digestive system shuts down. An autonomic crisis causes individuals not being able to do normal activities and having to spend a few days in the