Familial Dysautonomia: the leader in FD treatment and research
A Condition most people
have never heard of.
About Familial Dysautonomia (FD)
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 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.
While improvements in treatment and research have increased life expectancy, FD remains a life-threatening disease with no cure.
10 FD QUICK FACTS
1) FD is caused by a mutation in the ELP-1 gene (which used to be known as IKBKAP)
2) Over 99% of patients inherit 2 copies of the Ashkenazi (founder) mutation dating back to the 1500’s
3) Most parents of newly diagnosed children with FD are unaware of their Jewish heritage
4) FD affects the development and survival of the nervous system within the brain and the body
5) Patients have similar symptoms, but the severity may vary
6) There are symptomatic treatments that help patients feel better and live longer
7) Currently, FD has no cure
8) Patients have less sensation, are at risk of injuries, have difficulty localizing pain, and regulating their body
9) Lung disease is common and requires a proactive approach to treatment
10) The NYU Dysautonomia Center has existed for over half a century and is dedicated to FD patients 24/7
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Photos by Rick Guidotti, POSITIVE EXPOSURE
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The information provided in the Dysautonomia Foundation web site is intended to educate the reader about certain medical conditions and certain possible treatments. It is not a substitute for examination, diagnosis, and medical care provided by a licensed and qualified health professional. If you believe you, or your child, or someone you know, suffer from the conditions described herein, please see your health care provider. Do not attempt to treat yourself, your child, or anyone else without proper medical supervision.
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Medical Disclosure
The FD Foundation does not offer medical advice. We always recommend that you contact the Dysautonomia Center (link here) or your personal physician.