Dysautonomia Foundation, Inc.

 
Treatment & Medical Care

The Dysautonomia Foundation has established the world's only two FD Centers, in New York and Jerusalem, with the primary mission of  providing medical care that leads to improved quality of life and increased life expectancy for patients with FD. Advances in clinical management are critically dependent on research, so each of the Centers is also a focal point for FD clinical research. In 2007, The Dysautonomia Foundation endowed a second professorship and constructed a  new Dysautonomia Research Laboratory at the NYU Dysautonomia Center. The Laboratory is committed to better understanding the neurological and physiological deficits in FD and planning more effective treatment strategies through evidence-based medicine.

 
Dysautonomia Center at NYU
The Dysautonomia Center was established in 1969 at New York University Medical Center under the direction of Dr. Felicia Axelrod. Since the very beginning, the Center has had two main goals: 1) provide treatment for patients with familial dysautonomia (FD), 2) conduct clinical research into the disease. Since the start, the Center�s staff have supervised the treatment of FD patients on a regular basis with periodic evaluation visits and developed personalized medical care programs for each registered patient.

In 2007, Dr. Horacio Kaufmann joined the Center�s team. Dr. Kaufmann, a Professor of Neurology, heads the new Dysautonomia Research Laboratory. Other staff members include Lucy Norcliffe-Kaufmann, PhD, Nurse Practitioner Joesph Reyes, RN, MS, PNP, Senior Research Manager Jose Martinez, MS, and Director of Social Services, Philip Giarraffa, MPH. The Center also has a Fellowship program within NYU�s Department of Neurology that provides intensive training in autonomic disorders. The first graduate from the program was Alejandra Gonzalez-Duarte, M.D and the current Fellow is Ishan Adhikari, M.D

The Dysautonomia Center at NYU is the leading medical facility for FD in the United States. It is a unique resource facility for patients and parents as well as physicians from outside the Center that are involved in the care of patients with FD. Monday through Friday from 3 PM to 4PM are designated telephone consultation times for non-urgent issues. The Center�s medical team provides emergency consultations 24 hours a day.

A goal of the facility is to centralize the care of patients with regular clinical evaluations. Information collected during an office visit is stored, confidentially, within an electronic database that allows for the analysis of the incidence of particular medical problems and to determine the effectiveness of treatment interventions. This database constitutes the worlds only comprehensive patient registry for FD. 
 

          
 Felicia B. Axelrod, MD              Horacio Kaufmann, MD
 
                   
Lucy Norcliffe-Kaufmann, PhD   Joseph Reyes, RN, MS, PNP         Jose Martinez, MS       
 
                           
      Ishan Adhikari, MD                     Philip Giarraffa, MSW           Alejandra Gonzalez-Duarte, MD

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

Clinical information collected during an evaluation visit is shared between the NYU and Israeli FD Centers. This integrated care approach makes the most up-to-date medical information available at both sites and facilitates scientific research.

 
Comprehensive FD Evaluation
At the NYU Dysautonomia Center patients with FD undergo a detailed evaluation. 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 usually performed annually. A patient can be seen for interim visits if necessary.

What to expect at your evaluation visit: Most evaluation visits are structured so that patients have the opportunity to first meet with Dr. Axelrod to discuss their progress in the last year and any concerns they or their family may have. Patients will then have a complete physical examination during which a physician or nurse practitioner will listen to the lungs, take a sample of blood (to look for signs of infection and organ function) and take the patients height and weight. Patients visiting the Center of the first time will have diagnostic testing to look for the known FD gene mutations.

After this, most patients will then go into the clinical laboratory to have the necessary tests needed to determine their medical status. Blood pressure, heart rate and expired carbon dioxide levels will be measured laying flat (supine) and upright (either standing or on the tilt table). Patients will then have blood taken, which is analyzed at the Center, to determine the level of oxygen and carbon dioxide carried in the blood. Some patients may also be fitted with a portable monitor, which measures and records their blood pressure at regular intervals during the day and night. The information collected in the laboratory is used to assess the patient�s health status and forms the basis for the clinical decision-making.

The team then meets and presents the case to Dr. Kaufmann, who interprets the results of the various tests. The patient and their family will then meet with the entire team, who will provide their impression and discuss the recommendations. Patients will then be given a list of recommendations in writing with an individualized treatment plan. An in-depth report summarizing the patient�s current medical status together with the treatment plan will be sent to the referring physician and other health care providers as requested by the family.

How to prepare for your visit: It is often useful to bring a list of current medications with the name of the drug, the dosage and the time of day that the drug is taken. Bringing with you copies of any recent blood work, sleep study reports, X-rays, MRI scans or reports from other physicians is also helpful. You may also want to prepare a list of questions or issues that you would like to discuss with the Center�s team.

 
Treatment Approaches
Treatment of FD is preventative, symptomatic and supportive. FD does not express itself in a consistent manner from one patient to another. There is considerable variability in severity and type of symptoms displayed among patients, and even in the same patient at different ages.

Because the needs of each patient with FD are different and patients face different issues at key developmental stages, the Center uses a personalized medical approach and provides individualize treatment plans. The Center�s staff often works closely with other local health care providers in the medical management of patients with FD.

Some of the common problems faced by patients with FD and treatment options are:

Blood pressure. All patients with FD have times when their blood pressure is too high and times when their blood pressure is too low. The therapeutic goal at the Center is to lessen the highs and limit the lows. Each patient is given an individualized treatment plan, including practical tips and in some cases drug interventions. The management of blood pressure requires careful clinical assessment and periodic evaluations.

Respiration. Many patients with FD have problems with their lung function. Some patients suffer from frequent lung infections, commonly caused by the misdirection of food or fluid into the lungs. Asthma, sleep apnea and respiratory insufficiency (not breathing enough) also occur in some patients with FD. The Center�s staff monitors respiratory function as part of the clinical assessment during an evaluation visit. When necessary, a patient is given a treatment plan, which may include an regime of exercises to promote good lung function and in some cases medications to relieve symptoms or treat active infections.

Alacrima (dry eyes). Patients with FD don�t produce enough eye moisture, leaving the eyes dry and suspebtible to corneal abrasions. Artificial tears are commonly used as a preventative treatment.

Feeding difficulties. The majority of patients with FD have difficultly with feeding, which is usually noticed in early infancy. The Center has a number of practical guidelines to help parents feed their children in the safest possible way. The Center�s staff works closely with specialist feeding therapists who focus on helping children overcome feeding difficulties.

Speech difficulties. Some children with FD find it difficult to pronounce words correctly and often need speech therapy to help them over come speech difficulties.

Nausea and vomiting. Some patients with FD suffer from recurrent nausea and vomiting attacks that are severely disabling. The Center offers a number of different treatment options.

Injury. Because patients with FD are insensitive to pain and temperature, the Center provides practical guideline for each developmental stage to cope with these issues and prevent injuries.

Orthopedic problems. Some patients with FD have orthopedic issues, which may require different therapies. The Center�s staff are available to discuss treatment options and alternatives.

 
Parent Manual
A comprehensive manual describing interventional approaches used to manage the medical problems common in patients with FD is available on request from the Dysautonomia Foundation. Additional copies can be obtained for other health care providers upon the request of the family.