Treatment of familial dysautonomia
Your healthcare provider will first ask about your symptoms. They will also do a physical exam. Your provider will look for an absence of tears when you cry. For children younger than 6 months, they may use the Schirmer test: They place the end of filter paper in the far corner of your child’s lower eyelid. After five minutes, less than 10 ml of wetness means your child may have familial dysautonomia. Your provider will also look for: Decreased tendon reflexes: If you have FD, you won’t react when a provider taps your muscles. Reaction to a histamine injection: If you have FD, the injection won’t cause redness and swelling. Reaction to eye drops (methacholine): After about 20 minutes, you will have smaller pupils if you have FD. Smooth-looking tongue: If you have FD, you lack structures that house taste buds in the center of the back of your tongue (fungiform papillae). If your provider suspects FD, they may suggest genetic testing. This involves a blood test to check for the gene change (mutation) that causes familial dysautonomia.