HEALTH Battlin Dysautonomia clouds the future of these Jewish families. ADRIEN CHANDLER R Special to The Jewish News Rachel Reich, age 5 1/2 and afflicted with dysuatonmia, sits on her father's lap. 48 FRIDAY, NOVEMBER 16, 1990 achel Reich is no stranger to hos- pitals. She's been on the inside ma- ny times in her five years, leapfrogging from one medical crisis to another. Her parents, Keith and Sandi Reich, former Detroiters now living in Chicago, describe their daughter as a sweet, happy, well-adjusted little girl — full of love and energy — a real trouper. But they always have to be on guard; Rachel is a walking time bomb. At any moment, she can become deathly ill. Her blood pressure can drop precipitous- ly. Her lungs can fill with fluid. She can have an attack of uncontrolled retching and vomiting. Her autonomic nervous system — the body's regulator of temperature, breathing, heart rate and digestion — functions erratically. Excite- ment, agitation or a good cry can trigger a dangerous reaction. And even if Rachel wanted to shed a tear or two, she can't. She has none. Rachel suffers from a ge- netic disease called familial dysautonomia — a rare and often underdiagnosed neuro- logical condition associated with Jews of Ashkenazi des- cent. The disease occurs when the neurological development of a fetus short-circuits, possibly due to a problem with a nerve growth chemical. of disease a "It's developmental arrest," says Dr. Ralph Cash, a Detroit area pediatrician who sits on the medical advisory board of the national FD Foundation. "The development of the autonomic nervous sytem is abnormal and slows down or ceases sometime late in pregnancy." And as with any "short cir- cuit," things can go haywire at anytime. "It's like the en- tire nervous system suddenly forgets how to behave," says Dr. Felicia Axelrod, director of the Dysautonomia Treatment and Evaluation Center at the New York University Medical Center. Dr. Axelrod manages some 400 dysautonomia cases around the world. The characteristics of dysautonomia are varied. Cases can range from mild to severe, but share common symptoms: no overflow tears, a lack of response to pain and temperature (a child could be seriously injured or burned and _not know it), absence of taste buds, unstable blood pressure and body temperature, uncontrollable vomiting attacks, repeated pneumonia, impaired swal- lowing, poor muscle tone and skeletal defects, often leading to curvature of the spine. One early indicator is if a full term infant has trouble sucking. Since dysautonomic chil- dren don't swallow properly, any liquid they consume is often misdirected and aspirated — taken into the lungs — causing the chronic pneumonia. "What shortens the lives of dysautonomia victims is the lung damage:" says Dr. Alex- rod. "The major cause of death is aspiration pneumonia." The disease used to have a high mortality rate. Fifty per- cent of all children with dysautonomia would die by