Dysautonomia Foundation, Inc.
A non-profit organization supporting medical research 
and treatment for people with Familial Dysautonomia

 
Treatment

 
Dysautonomia Treatment and Evaluation Center at NYU
The Dysautonomia Treatment and Evaluation Center was established in 1969 at New York University Medical Center under the direction of Dr. Felicia B. Axelrod. The purpose of the Center is to provide treatment to individuals with the genetic disorder Familial Dysautonomia (FD), as well as to conduct research. Dr. Axelrod supervises the treatment and evaluation of all the dysautonomia patients on a regular basis and develops individualized care programs. In 2007, Dr. Horacio Kaufmann joined the Center as Co-Director. Dr. Kaufmann, a Professor of Neurology, Pediatrics and Medicine, is the Director of the new Dysautonomia Research Lab. The other staff members are Gabrielle Gold-von Simson, MD, Assistant Professor of Pediatrics and Staff Physician; Dena Berlin, RN, PNP Clinical Nurse Associate, Pediatric Nurse Practioner and Office Manager; and, Philip Giarraffa, Director of Social Services. The Center at NYU is the only such facility for FD in the United States. It has an international reputation and is a global resource for patients and physicians. Clinical observations and laboratory data are continually recorded at the Dysautonomia Treatment and Evaluation Center. Centralization of patient data aids in periodic reviews and analysis to determine incidence of particular problems, effectiveness of therapy and long term sequela of FD as well as of treatment programs.

 
Dysautonomia Center in Israel
The Dysautonomia Center in Israel, at Hadassah Hospital-Mt. Scopus in Jerusalem, was established in the fall of 1980 and is under the direction of Dr. Channa Maayan. The Israeli Center was established as a collaborative center and is modeled after the New York facility.

Information regarding evaluations is shared with the NYU FD Center in order to provide current integrated care and assistance to all Israeli FD Patients, and to provide their physicians with the most up-to-date medical information available.

 
Evaluation
At the FD Center patients receive a comprehensive examination by Dr. Axelrod. As part of the initial evaluation, diagnostic tests may be repeated if confirmation of diagnosis is indicated.

• Evaluations focus on the major concerns of the patients and their families and assess the current status of the patient. The final impressions and recommendations form the basis of an individualized treatment plan. This plan generates an in-depth report, which is sent to the referring physician and other health care providers as requested by the family.
   

• For children less than one year, evaluations are performed quarterly. For children from one year to 5 years, examinations are biannual. For patients from 5 years through adulthood, evaluations are performed annually. A patient can be seen for interim visits if necessary.
   

• There are designated telephone consultation times (3 to 4 PM, Monday through Friday), but Dr. Axelrod or her staff are always available for emergency consultation on a 24-hour basis.

 
Treatment Approaches
Treatment of FD is preventative, symptomatic and supportive. Although penetrance of the disease is complete, FD does not express itself in a consistent manner. There is considerable variability in severity and type of symptoms displayed among patients, and even in the same patient at different ages. Thus it is recommended that patients avail themselves of the specialized resources and individualized treatment plans at the FD Center. Some of the more commonly needed treatments are as follows:

• Artificial tears

• Special feeding techniques

• Special therapies (feeding, occupational, physical, speech)

• Special drug management of autonomic manifestations

• Respiratory care

• Protecting the child from injury (coping with decreased taste, temperature and pain perception)

• Treatment of orthopedic problems (tibial torsion and spinal curvature)

• Compensating for labile blood pressures

 
Parent Manual
The Parent Manual is a publication developed by Dr. Axelrod at the FD Center to help parents understand and cope with FD. It is a comprehensive care manual organized chronologically as well as by various body systems. Copies of the manual are provided to the patient at time of diagnosis. Supplemental copies can be distributed to other health care providers upon the request of the family.

 (c) 2006 Dysautonomia Foundation, Inc.

 Dysautonomia Foundation, Inc.
 315 West 39th Street, Suite 701
New York, NY 10018
Phone: 212-279-1066
Email: info@familialdysautonomia.org

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