Gina, a 14-year-old Jewish girl, had familial dysautonomia when she passed away. She was described as a having a ‘positive and upbeat attitude’ and enjoyed spending time with her older brother and his friends. Familial dysautonomia is a Jewish genetic disease, which is a group of rare diseases that have a much higher prevalence in those of Jewish ancestry. This group of diseases are recessive and autosomal. As many as a fourth of Ashkenazi Jewish people are estimated to carry a gene for one Jewish genetic disease.
About Familial Dysautonomia
Familial dysautonomia falls under the umbrella term dysautonomia, which causes problems with the automatic nervous system (ANS). The ANS is responsible for involuntary actions of the smooth and cardiac muscle and glandular tissue. These actions include heart rate, digestion, kidney function, etc. Because dysautonomia affects these processes, people with this disease experience unstable blood pressure, fainting, abnormal heart rate, lightheadedness, and malnutrition. Familial dysautonomia also affects the sensory nervous system, meaning the sense of taste, touch, etc. This disease presents itself at birth, as infants will not cry, have poor muscle tone and growth, have trouble feeding, lung infections, and cannot regulate their body temperature. As they age, more symptoms may present, such as wetting the bed or scoliosis. About one in three people with familial dysautonomia also have a learning disability. While this disease is extremely rare in the general population, within the Ashkenazi Jewish population it is present in 1 out of every 3,700 people. It is caused by a mutation in the ELP1 gene, which results in a lack of the ELP1 protein. This disease is recessive, meaning that both parents must be carriers in order for their child to have it. There is no cure or treatment for the disease itself, but there are medications and treatments for various symptoms. Surgery for example can correct scoliosis and medication can help regulate blood pressure.
About Jewish Genetic Diseases
Jewish genetic diseases are extremely prevalent among Ashkenazi Jews, which is a group of people who originated in Eastern Europe. A few of these diseases include Bloom syndrome, Gaucher disease, Tay-Sachs disease, and Niemann-Pick disease. Many of these diseases are severe and life-threatening, and it is because of this severity that Rabbi Sarah Freidson urges Jewish couples to get tested to ensure that they are not carriers of any of these diseases. She tells all couples that she marries the story of Gina, and uses her memory to push couples towards genetic testing.
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