My baby sister was diagnosed with Familial dysautonomia few days ago. We were all shocked with the news from her doctor. Even though he told us some things about her condition I would like to know more.
I am sorry to hear that about your baby sister. Receiving a news like that is always shocking, especially when our loved ones are involved. Familial dysautonomia or FD is a group of disorders known as hereditary sensory and autonomic neuropathies. The most distinctive sign of this disorder is absence of overflow tears with emotional crying. However, this can be normal for a child until 7 months of age. Other signs of the disorder can be present from birth. These include a high prevalence of breech presentation, weak or absent suck and poor tone. Familial dysautonomia should be suspected when an individual lacks overflow tears with emotional crying. I should also mention that problems can vary considerably among patients and with different ages. Although the Familial dysautonomia gene has been identified, there is still no definitive treatment. So far treatment remains preventative, symptomatic and supportive.