Contents:
What
is Familial Dysautonomia?
Physical
Symptoms
How FD is Inherited
A Carrier Test is Here
About the Dysautonomia Foundation
Chapters
How You Can Help
Contact Us
What is Familial Dysautonomia?
FD, or
Familial Dysautonomia --pronounced “dysauto-NO-mia” -- is a genetic disease
present at birth in male and female Jewish babies, primarily causing dysfunction
of the autonomic and sensory nervous systems.
The autonomic
nervous system controls bodily functions which are often taken for granted
such as:
Crying with
tears
Regulation
of blood pressure and body temperature
Normal
swallowing and digestion
Ability to
respond to stress
Children
with FD may drink fluids and be unaware that abnormal swallowing is misdirecting
the fluid into the lungs, rather than the stomach, causing lung problems.
Sensory
abilities are needed to protect the body from injury to
assure prompt recognition, so that proper treatment can be given.
Children
with FD often do not feel pain and may break a bone, or burn themselves, without
any awareness of the injury. Crying
without tears is one of the most striking symptoms of FD. But it’s more…much more!
Other symptoms which may be present are:
Poor suck at
birth, drooling or feeding problems
Hypotonia
(poor muscle tone) or “floppy baby” signs
Delayed
developmental milestones such as walking and speech
Inapropriate
temperature control with unexplained very high fevers or very low
temperatures
Wide swings
in blood pressure
Episodic
Vomiting
Frequent
lung infections or pneumonias
Decreased
reaction to pain-or no reaction at all
Excessive
sweating
Blotchy
reddening of skin with excitement and/or feeding
Cold hands
and feet
Early spinal
curvature
Smooth
tongue due to absent taste buds
Poor weight
gain and growth
It is
estimated that one in 30 individuals of Easter European (Ashkenazi) Jewish
descent are carriers of the FD gene.
FD
is transmitted by a recessive gene.
For a child
to be affected, he or she must inherit two copies of the FD gene (one from
each parent).
All parents
of children with FD are carriers of the recessive gene that transmits the
disease
A parent or
carrier has no symptoms or warning signs of being a carrier of the FD gene
If two
carriers have a child, there is a 25% chance with each pregnancy that the
recessive genes will pair and result in a child being affected with FD.
FD is not contagious. You cannot get FD by contact.
Two
mutations in this gene can cause FD. General
population screening is available. Testing
of individuals without a family history is available.
How is testing performed? Genetic
testing is performed on a small sample of blood from the interested individual. The reliability of the test is greater than 99%.
Who
Should be Tested
Any
individual with Ashkenazi Jewish (Eastern European) origin has a 1 in 30
risk of being a carrier and should consider screening
Any
individual who has a family history of FD has an increased risk of being a
carrier and should consider a screening test
If your
partner is a carrier, then you should be tested
For
Information about Genetic Testing call
FD
Genetic Counselor Elsa Reich, MS
Tel:
212-263-5746 Fax: 212-267-7590
Email:
elsa.reich@med.nyu.edu
The
Dysautonomia Treatment and Evaluation Center at New York University Medical
Center was established in 1970. Dr.
Felicia B. Axelrod, Director of the Center, is the world’s leading authority
on the disease.
At the
Center:
Patients
receive individualized treatment programs and expert medical care which has
improved the quality of their lives and has enabled many more children to reach
adulthood.
Information
on the disease is computerized, reviewed and analyzed, enabling the Center to
serve as a resource facility for parents, physicians and other health care
professionals throughout the world.
Because
there are many patients in Israel, a Treatment Center was established at the
Hadassah Hospital in Jerusalem.
Visit the
Treatment and Evaluation Center’s Website at:
HTTP://www.med.nyu.edu/fd/fdcenter.html
About
the Dysautonomia Foundation
The
Dysautonomia Foundation Inc. is a non-profit organization founded in 1951 by the
parents of afflicted children. The
organization is headquartered in New York City with fourteen chapters located
throughout the United States, Canada, Great Britain and Israel.
The
Foundation supports medical research and clinical care in FD by:
Maintaining
the Dysautonomia Treatment and Evaluation Center at New York University
Medical Center.
Maintaining
the Israeli Center at Hadassah Hospital in Jerusalem.
Funding
research studies into FD by eminent scientists around the world.
Funding
research to find the function of the FD gene.
The
Foundation also provides a continual flow of information to members, patients,
professionals and all those persons who request medical, educational or
promotional material concerning FD.
Visit the
Foundation on our website www.familialdysautonomia.org
Boston
Chapter . Boston . Massachusetts
Chicago/Illinois
Chapter . Buffalo Grove . Illinois
Dysautonomia
Society of Great Britain
Bernie
Hattenbach Chapter . Norwalk . Connecticut
Israeli
Chapter . Haifa . Israel
Long Island
Chapter . North Woodmere . New York
Maryland
Chapter . Randallstown . Maryland
Michigan
Chapter . Southfield . Michigan
Montreal
Chapter . Montreal . Canada
Southern
California Chapter . Tarzana . California
South
Florida Chapter . Sunrise . Florida
Toronto
Chapter . Toronto . Canada
Helen Volein
Chapter . Northern New Jersey
Worcester County Chapter . Worcester . Massachusetts
A tax
deductible contribution to the Dysautonomia Foundation will help in the
following ways:
Further
research to discover the function of the FD Gene known as IKBKAP
Provide
grants for eminent scientists & researchers to study FD towards
treatment and a cure
Maintain the
valuable clinical care and research at the Dysautonomia Centers at New York
University Medical Center and Hadassah Hospital in Israel
Dysautonomia
Foundation Inc.
633 Third Avenue 12th Floor
New York, NY 10017-6706
Tel 212-949-6644 Fax 212-682-7625