Standard Ashkenazi Panel
All three are fatal metabolic dysfunctions that result from the body’s inability to break down certain substances. Eventually, these substances accumulate in the cells, causing progressive damage. The diseases manifest in various neurological symptoms that, after a few months, arrest the proper development of the child. Sick children rarely reach the age of five. Their lives are short, devastating, suffering-filled years for both child and family. There are no known cures or treatments. The genes for these diseases are very prevalent. The Tay Sachs genetic mutiaton alone is present in one of every 25 Jews of Ashkenazi descent and one of every 100 Jews of North African descent.
Cystic Fibrosis manifests itself in serious respiratory ailments as well as other health problems of varying severity. The lives of CF patients are filled with ongoing suffering and frequent, lengthy hospitalizations. Many times, CF patients require lung transplants to survive.
FD mainly affects the central nervous system, which is responsible for many of the body’s systems, such as blood-pressure stabilization, motor function, sensory nervous system and the ability to swallow and perspire, among other functions. Patients affected by FD are typically recognized by “tearless crying”. FD patients often experience low sensitivity to pain which puts them in danger of fractures, wounds and burns. As the disease progresses, the digestive, respiratory skeletal, and circulatory systems are often affected as well. Familial Dysautonomia is incurable. Dor Yeshorim was actually a part of the successful effort to identify the genetic mutations that cause the disease and the establishment of genetic tests to detect it.
Fanconi Anemia manifests itself in severe anemia, congenital defects in the extremities and a tendency towards cancer and leukemia. In some patients the disease causes mental retardation and dwarfism. The treatment entails frequent blood transfusions and patients’ lives are filled with anguish. The only possible way to cure the disease is by transplantation of bone marrow or umbilical cord blood stem cells.
Patients with this disease lack the ability to break down glycogen (sugar). This results in complicated diabetes and severe digestive disturbances. Glycogen Storage frequently leads to liver tumors and can be fatal.
Bloom Syndrome is typified by dwarfism, a tendency towards malignant tumors, chromosomal instability, hyper-sensitivity to sunlight and more. Many Bloom Syndrome patients suffer from mental retardation as well. The disease is more common among Jews of Ashkenazi descent than the general population.
Mucolipidosis is a severe degenerative disease of the brain that hampers neurological and motor development and causes blindness. The symptoms appear before age one. Some patients reach adulthood, but never develop beyond the level of a 12-18 month old.