A Condition most people

have never heard of.

Do I have FD?

Many people who contact the Dysautonomia Foundation, Inc. are concerned about their risk of being affected by Familial Dysautonomia.

 

Diagnosing FD

Physicians use physical examinations, personal and family medical history, genetic testing, and laboratory test results in order to diagnose genetic disorders. Learn more about diagnosing genetic disorders here.

 

Most people with FD experience signs and symptoms from birth. Some features that may appear in FD-affected infants or young children are:

 

  • Inability to suck or swallow
  • Poor growth
  • Insensitivity to pain
  • Unstable body temperature and pain
  • Frequent lung infections
  • Delayed developmental milestones 

Since FD is a degenerative disorder, symptoms of FD usually become more severe as FD-affected individuals enter adulthood. 

 

Carrier Screening

We advocate genetic screening for all people to determine if you are a potential carrier of a genetic disorder. If you are concerned that you are a possible carrier of FD, we especially encourage genetic screening.

 

Because the FD gene is passed down in a recessive manner, most people carrying the FD gene do not know it.

All patients with FD have one or two copies of a single splicing mutation; over 99% of cases of FD in the Ashkenazi Jewish (AJ) population have two copies of this splicing mutation.

 

Additionally, researchers have recently diagnosed cases of FD in patients with no known Ashkenazi Jewish heritage.

For more information and to obtain genetic screening, please visit the Jewish Genetic Disease Consortium, as well as jscreen.org

 

Disclaimer: The FD Foundation does not offer medical advice.  We always recommend that you contact the Dysautonomia Center (link) or your personal physician.