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About FD
FD - familial dysautonomia, also known as
Riley-Day Syndrome and HSAN type III.
Familial dysautonomia (FD) is a rare genetic disease that
affects the autonomic and sensory nervous systems of children
from birth. The most striking symptoms of FD are reduced
sensitivity to pain and temperature, and the inability to
produce tears. But FD is much more than “no pain and no tears,”
it affects every major system of the body, causing severe
respiratory, cardiovascular, orthopedic, digestive, renal and
vision problems.
Children with FD lack the most basic reflexes and instincts that
we take for granted. As a result, their bodies cannot function
normally. They cannot control their blood pressure or heart
rate, and they lack the ability to suck at birth and the ability
to swallow properly. Because they often swallow into their lungs
rather than their stomachs, they are prone to pneumonia. As a
result, most FD patients have a feeding tube, so they can be fed
directly into their stomachs and reduce the risk of pneumonia.
FD was once thought of as a fatal childhood disease, with most
children expected to live, on average, only to five years of
age. Advances in treatment have dramatically extended life
expectancy, but children with FD still suffer from chronic and
often debilitating symptoms that prevent them from leading
normal lives. FD causes a mysterious syndrome called “autonomic
crisis” in which patients experience extreme swings in blood
pressure and heart rate, along with dramatic personality
changes, and a complete shut down of the digestive system. Once
FD patients go into crisis, they cannot engage in any normal
activity until hours or days later, and they may require
hospitalization for observation, sedation and hydration until
the crisis abates.
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FD
Facts
Treatment
FD
Research & Publications
PubMed search for Recent FD-related Publications
GeneReviews (funded by the NIH) article on FD
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