Since the discovery of the Familial Dysautonomia (FD) gene mutation in 2000, several revolutionary treatments have helped many children and adults with FD.
The benchmark of these new 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 (IKAP.) 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, also referred to as hypertensive crisis.
That same year, Drs. Rubin and Anderson discovered the second treatment, EGCG, a component of green tea, which further helped to raise a lacking protein level. Again, those taking EGCG reported additional autonomic stability.
In 2005, Drs. Rubin and Anderson discovered the third treatment; they learned that a special diet, free of tyramine, helped those with FD significantly reduce their number of hypertensive crises.
In 2009, Drs. Rubin and Anderson discovered the fourth and fifth treatment. Vitamin A and beta-carotene help raise IKAP protein levels, futher improving autonomic function and reducing the number of hypertensive crises.
In 2010, Drs. Rubin and Anderson discovered the sixth treatment; a protein-limiting diet dramatically reduces the number of hyertensive crises.
In 2011, Drs. Rubin and Anderson discovered the seventh, and perhaps the most significant breakthrough; they raised the lacking protein, IKAP, to 100%. Genistein, (a molecule present in soy) greatly increases the production of IKAP protein and, when delivered with EGCG, produces normal levels of this protein, resulting in dramatic health improvement for those with FD.
In 2013, Drs. Rubin and Anderson discovered the eighth treatment breakthrough; olive leaf extract restricts the growth of tyramine-producing bacteria, thus reduces the number of hypertensive crises in individuals with FD.
In 2016, Drs. Rubin and Anderson discovered the ninth treatment breakthrough; a specific probiotic that replaces tyramine-containing bacteria in the gut, helping to reduce morning nausea and vomiting.
Prior to these systemic treatments, the medical community could only rely on a variety of individual treatments for individual symptoms. For example, to combat low blood pressure, patients may be prescribed Florinef. To combat high blood pressure, patients may be prescribed Clonidine. Today, patients with FD have many more treatment options. Typically, patients taking many medications to treat each individual symptom do not experience the benefit of the tocotrienols, EGCG, tyramine-free diet, Vitamin A, beta-carotene, protein-limiting diet and genistein. Those patients taking few or no medications experience the optimal benefit of the tocotrienols, EGCG, tyramine-free diet, Vitamin A, beta-carotene, protein-limiting diet and genistein.
Those with FD are cared for by a cadre of health care specialists including speech, occupational, physical and respiratory therapists, pulmonologists, cardiologists, gastroenterologists, urologists, orthopedic surgeons, ophthalmologists, and psychologists.