What Your Test Results Mean:

Test results indicate that you are a carrier of familial dysautonomia. Carriers are not expected to show symptoms. You and your partner or donor would both have to be carriers of familial dysautonomia for there to be an increased chance to have a child with symptoms; this is known as autosomal recessive inheritance. Carrier testing of your partner or donor is recommended in addition to consultation with a genetic counselor for a more detailed risk assessment.

Since this is an inherited gene change, this information may be helpful to share with family members as it may impact their family planning.

Disease Explained:

Familial dysautonomia is an inherited nerve disorder that typically presents at birth and progresses over time. This condition affects cells responsible for involuntary actions, such as digestion, breathing, production of tears, and regulating blood pressure and body temperature. The condition also affects the senses, including taste and the perception of pain, heat, and cold. Individuals with familial dysautonomia have gastrointestinal dysfunction, vomiting crises, recurrent pneumonia, cardiovascular instability, and developmental delays. Approximately one-third of affected individuals have an intellectual disability. The disease is associated with a high incidence of sudden death caused by lung infections, sepsis, and unexplained causes.

Prognosis:

With improved supportive treatment, lifespan has increased. Approximately 60% of individuals with familial dysautonomia survive past age 20.

Treatment:

Treatment is focused on managing symptoms of the disease as there is no cure.