FD is a genetic disorder that affects the autonomic and sensory nervous systems. Though FD affects people across the world, it occurs almost exclusively in children with Ashkenazi Jewish heritage. FD is the one of the rarest of diseases, with only 350 people currently living with FD worldwide.
FD is inherited in an autosomal recessive manner, when both otherwise healthy parents pass on their copy of a mutated IKAP gene to their unborn child.
Infants are born unable to sense information coming from inside their own bodies. All the normal bodily functions we take for granted are gone awry in people with FD.
Perhaps the most striking symptoms of FD are reduced sensitivity to pain and temperature, and the inability to produce tears, which is the inspiration for the teardrop in the Familial Dysautonomia Foundation’s logo.
Features of FD:
- Insensitivity to pain
- Unstable blood pressure and body temperature
- “Autonomic crises:” Episodes of cyclical vomiting accompanied by extremely high blood pressure and increased heart rate, sweating and fever.
- Absence of tears
- Poor growth
- Other respiratory, cardiovascular, orthopedic, digestive, and vision problems.
- Inability to suck or swallow (many individuals affected by FD must use feeding tubes to receive proper nutrition).
Living with FD is a daily challenge filled with unimaginable obstacles for those who are affected as well as their families.