The Hadassah Medical Center is home to one of the world’s two familial dysautonomia (FD) centers, bringing treatment and longer life to patients with this incurable genetic disease, which causes almost every major bodily system to malfunction.
Located at Hadassah Hospital-Mount Scopus, the Center is headed by Prof. Channa Maayan, a specialist in children’s lung diseases, and funded by the Dysautonomia Foundation in the United States and private donations.
One out of every 30 Jews of Ashkenazi origin (including those with only one Ashkenazi parent) carries the defective gene, which causes FD. For those of Polish origin, the rate is one in 18. In the past, FD used to kill children by the age of five. Today, thanks to better understanding of the disease, identification of the defective gene that causes it, and innovative therapies, the mortality rate is only two percent and patients have a better quality of life. Nevertheless, FD remains a debilitating disease, which affects the development and survival of certain nerve cells, specifically those of the sensory and autonomic nervous system. It also causes severe gastrointestinal, cardiac, pulmonary, orthopedic, renal, and ophthalmological problems.
While severity of symptoms vary, children often lack the most basic reflexes. Because they can’t control their blood pressure and heart rates, these fluctuate dangerously. Because they can’t swallow properly, food often ends up in their trachea or lungs and they are prone to aspiration pneumonia. The children are usually short, and have red, puffy hands, crooked teeth, and an asymmetrical face. Some rub their nose so much that part of it wears down. They get bone fractures without realizing it due to osteoporosis and have an unstable gait. Among the treatments they frequently need are spinal fusion, ventilation, and physiotherapy.
Those suffering with FD experience a syndrome called “autonomic crisis,” during which as their blood pressure and heart rate dramatically fluctuate, they have a complete shutdown of their digestive system and dramatic personality changes. They are unable to participate in any normal activity for hours or days afterward, and may require hospitalization, sedation, and hydration until the crisis abates.
Despite all these hardships, most have warm personalities and above-average IQs. “God gave them an extra soul,” comments Prof. Maayan.
Editor’s note: The information for the above article was excerpted from “Avoiding a Life of Struggle and Suffering,” by Judy Siegel-Itzkovich, which appeared in the January 4, 2009 issue of The Jerusalem Post. Click here to read the full story.