Dysautonomia Foundation, Inc.

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History and Statistics

The following page contains a timeline of milestones in our understanding of Familial Dysautonomia and the Dysautonomia Foundation's accomplishments.  This page also provides significant statistics regarding FD.

This Page Includes:
History
Statistics

  

History

1949: 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 Foundation.

1959 - 1969: Important early discoveries about FD
Exploration, discovery, and awareness of the intricacies of FD:

  • Clinical diagnostic tests described

    • Histamine test

    • Classic tongue findings

  • Physiologic investigations

    • Plasma and urine catecholamine abnormalities

    • -Observations regarding insensitivity (lack of compensatory mechanisms) to low oxygen and high carbon dioxide environment

1969 - 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.

1970: 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 NYU.

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. Channa Maayan.

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.

1987: 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 centers.

1994: Dr. Max Hilz collaborates with Dysautonomia Treatment and Evaluation Center
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 approval.

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 neurologically.

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:

  • Cold face stimulation to assess parasympathetic dysfunction using transcranial Doppler

  • Assessment of microcirculation by laser Doppler flowmeter

  • Correlation of sensory (temperature perception) levels with cardiac autonomic risk

1999: 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.

  • DYS candidate region = < 0.5 cM between new markers 43B1GAGT and 157A3

  • One major haplotype for DYS region on >98% of FD chromosomes

  • One major founder mutation for FD among Ashkenazim

2001: FD gene is discovered
FD gene/mutations discovered and carrier testing becomes available to the general public.

2002: NY recognizes FD as a developmental disability
New York signs into law a bill that recognizes FD as a developmental disability.

 

 

Statistics (as of January 2004):

595 patients have been registered with the Dysautonomia Center worldwide since 1970

  • one-third reside in the greater New York City area

  • one-third reside in Israel

  • the rest are in other parts of the USA, as well as Canada, South America (Argentina, Brazil, Uruguay, and Paraguay), Europe (England, France, Germany), South Africa and Australia

Over 340 patient files are still active

Treatment Results

  • Increased survival and better quality of life

  • Decreased hospitalizations per patient

  • Improved growth and weight gain

  • Less severe spinal curvatures

  • Less pneumonia

  • More education opportunities

  • 28 have married

  • 5 have had children of their ownall of whom were unaffected.

113 healthy babies born to affected families since prenatal testing became available in December 1993.

If you are interested in additional information about scientific and medical research into FD, please view our Research Page.

 

 


 


 
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