Familial dysautonomia is a genetic condition that affects the survival and development of parasympathetic, sensory and sympathetic neurons. It weakens a person’s body straight from birth. Individuals that suffer from familial dysautonomia experience gastrointestinal dysfunction, pneumonia, heightened pain sensitivity, vomiting, and instability of the cardiac muscles. The condition can be averted by the action of informed parents taking the initiative to protect their unborn children from a lifetime of ill-health.
Carrier DNA Tests for Familial Dysautonomia
Every individual has two sets of genetic materials. Every set is inherited from every parent. These genetic materials carry within them genes of genetic diseases that are recessive. These diseases occur due to the occurrence of a mutation at the DNA location from the two parents. If a person’s genetic material contains the mutation in only one of the two copies of the DNA, the person is considered a career of the disorder.
Carriers pose an odd of 50 percent of transmission to the child. If only one parent is a career and the other is not, the child has zero chances of being affected but 50 percent chances of being a career. If both parents are careers of the recessive genes, a child born has 25 percent chances of being a career and 25 percent chances being affected. If one parent is a carrier and the other is affected, a child born has half chances of being affected and the other half chance of being a career. The child has no chance of missing the recessive disease gene in their genotypic makeup. If one parent is not affected by the genetic disorder and is neither a career of the genetic mutation, then the child born of the union most definitely cannot inherit the condition but will be a career. That means that the child has zero chances of being affected but has 100 percent odds of being a carrier of the recessive disease gene.
Inherited diseases are often common in certain communities that do not breed outside. Ethnic groups are often predisposed to various genetic disorders as they are unaware of how to reduce the likelihood of occurrence of such disorders. In Eastern Europe, people of Jewish decent are very exposed to Familial Dysautonomia.
The possibility of prenatal diagnosis for the disorder came about in the year 1993. Through this possibility, genetic testing started being administered by examining small blood samples from interested parties. The accuracy of the testing has always been above 99 percent. If any of the couples show any symptoms of the genetic disorder, the best chance the couples have to have healthy children is if the other spouse is not either a carrier or affected by the genetic mutation. Professionals provide enough details on the disease history and the likelihood of children born out of the union to be affected or carry forward the genetic code of the disorder asymptomatically.