Diagnosing Familial Dysautonomia

Because Familial Dysautonomia (FD) is an orphan disease, diagnosing FD at birth rarely occurs.  Instead, a baby born with FD is often medically labeled with “failure to thrive,” “congenital benign hypotonia,” “colicy,” and “failure to suck.” As the baby develops and FD symptoms emerge, a definitive diagnosis is available from a simple genetic blood test. … Continue reading Diagnosing Familial Dysautonomia