Treating Familial Dysautonomia

Since the discovery of the FD gene mutation in 2000, three revolutionary treatments have helped many children and adults with FD. The benchmark of these three treatments is that they treat the underlying cause of the disease, rather than treat the individual symptoms.

The first comprehensive treatment occurred in 2003 when Dr. Berish Rubin and Dr. Sylvia Anderson at the Laboratory for Familial Dysautonomia Research at Fordham University discovered that a form of vitamin E called tocotrienols helped raise a lacking protein level. Those taking tocotrienols reported more stability in autonomic function, including increased energy and stamina. Some even reported the ability to spill overflow tears, a complete reversal of a telltale FD symptom. Additional research concluded that those taking tocotrienol improved their cardiac function and lowered their number of autonomic crisis.

That same year, Drs. Rubin and Anderson discovered the second overall treatment, EGCG, a component of green tea, which further helped raise a lacking protein level. Again, those taking EGCG reported additional autonomic stability.

Then, in 2005, the same laboratory discovered that a special diet, free of tyramine, helped those with FD reduce their number of autonomic crises.   

Prior to these systemic treatments, the medical community relied on a variety of individual treatments for individual symptoms. In addition to the tocotrienols, EGCG, and tyramine-free diet, those with FD may still benefit from individual symptom treatments depending on the number and severity of symptoms. Typically, those with FD receive treatment options from a cadre of health care specialists including speech, occupational, physical and respiratory therapists, pulmonologists, cardiologists, urologists, orthopedic surgeons, ophthalmologists, and psychologists.