FD is discovered
Original report of FD by Dr. Conrad Riley and Dr. Richard Day.
1951: The Dysautonomia Foundation is established
A group of parents of children with FD form the early Dysautonomia
1959 - 1969: Important early discoveries about FD
Exploration, discovery, and awareness of the intricacies of FD:
- 1979: Understanding that FD is a disorder of the nervous system
Major breakthroughs in understanding the neuropathology of FD through
studies by Dr. Aguayo and Dr. Pearson. Through electron microscopic
studies it was appreciated that there was an actual decreased number of
very small (unmyelinated) nerve cells (neurons). These were the neurons
that made up portions of the autonomic and sensory systems. This led to
the hypothesis that FD was a disorder in which the nervous system had not
completed its development.
The Dysautonomia Treatment and Evaluation Center is established
Establishment of the Dysautonomia Treatment & Evaluation Center at NYU
Medical Center under the directorship of Dr. Felicia B. Axelrod. This
Center generates numerous papers and medical articles, maintains computer
records, and develops patient management programs.
1972: Valium is used in treatment
Establishment of Valium in the treatment of the dysautonomic crisis.
1978: An FD patient gives birth
Report of first FD patient to have a child. The delivery occurred at
1979: Gastrostomy and fundoplication are used in treatment
Appreciation that aspiration and gastroesophageal reflux could respond to
fundoplication with gastrostomy. Gastrostomy is a medical procedure
in which an artificial opening is made from the stomach to a hole in
the abdomen where a feeding tube is inserted. Fundoplication
a medical procedure in which the stomach wall (muscle) is wrapped
around the esophogeal sphincter. As the stomach contracts, during
normal digestion, the procedure helps the otherwise "leaky"
sphincter seal off the esophagus, thus preventing acid reflux.
1980: Israeli Treatment Center established
Global outreach with establishment of satellite Israeli Treatment
Center at Hadassah Hospital-Mt. Scopus, now under the direction of Dr.
1982: Survival statistics improve
Report indicating that survival statistics had markedly improved.
This was attributed to programs instituted by the Dysautonomia Treatment
and Evaluation Center.
The Dysautonomia Foundation endows a chair at NYU
The Carl Seaman Family Professorship in Pediatrics for Dysautonomia
Treatment and Research at the NY Treatment Center was endowed by the
Dysautonomia Foundation. Funding was completed in 1992.
1993: FD gene is located on Chromosome 9
Gene for FD located on Chromosome 9 with sufficient markers to launch
prenatal diagnosis and carrier testing for families with an affected FD
patient. This was a result of collaborative effort between Mass
General (Harvard-Laboratory of James Gusella) and the two clinical
1994: Dr. Max Hilz collaborates with Dysautonomia Treatment and
Dr. Max J. Hilz starts to collaborate with the Dysautonomia Center in
NY. He brings new technology in assessment of autonomic and sensory
function, allowing new study protocols to be launched to help elucidate
the complexity of FD.
1995: Clinical trials of midodrine
FD patients participate in clinical trials of midodrine (a new drug to
treat low blood pressure). This eventually helped in obtaining FDA
1996: Studies with Jewish Roman population
NYU Team goes to Rome to launch genetic studies on Jewish Roman population
and to assess children who cannot feel pain clinically, genetically, and
1997: Studies in Germany
NYU Team goes to Germany to provide update on Familial Dysautonomia and to
assess clinically and neurologically children with other disorders
resulting in an inability to feel pain.
1997 - 1999: Rigorous neurophysiological investigations
Neurophysiological investigations increase:
face stimulation to assess parasympathetic dysfunction using
of microcirculation by laser Doppler flowmeter
of sensory (temperature perception) levels with cardiac autonomic risk
Mapping of FD gene
Precise genetic mapping and haplotype analysis of the Familial
Dysautonomia gene on human chromosome 9q31 with narrowing of the region to
120,000 base pairs.
candidate region = < 0.5 cM between new markers 43B1GAGT and 157A3
major haplotype for DYS region on >98% of FD chromosomes
major founder mutation for FD among Ashkenazim
FD gene is discovered
FD gene/mutations discovered and carrier testing becomes available to the general
2002: NY recognizes FD as a
New York signs into law a bill that recognizes FD as a developmental