Tuesday, October 10, 2006
What is Familial Dysautonomia
Familial Dysautonomia (FD) is a rare autosomal recessive (a type of genetic inheritance, in which there are two copies of a gene), disease that affects the body's nervous system. FD has only been documented in people of Ashkenazi (Eastern European) Jewish descent. This means that it is classified as one of the Jewish genetic diseases. Hereditary Sensory and Autonomic Neuropathies (HSAN) is a type of disease that results in the progressive loss of functions of the peripheral sensory nerves. FD is classified as Type III HSAN. If you are of Ashkenazi Jewish descent you should consider being blood tested, because one out of thirty people of this origin are at risk of being a carrier. You should also be tested if your partner is a carrier.
If your child has active symptoms of FD, this means that both you and your partner are carriers if FD. This is true because for the gene to be active there must be two copies of the gene (one gene comes from each parent). There is a 25% chance that a child will receive the active genes, if both parents are carriers. If you are a carrier of FD, but only have one gene of it, you will not show active symptoms of the disease. The human body contains forty-six chromosomes. FD has been proven to affect the IKBKAP Gene that is located in Chromosome 9. IKBKAP is short for Inhibitor of Kappa light polypeptide gene enhancer in B-cells, Kinase complex-Associated Protein. The IKBKAP Gene is a gene present in humans that provides instructional information to the body to make IKAP Protein. IKAP Protein is found in many cells all through the body, especially in brain cells.
There are many symptoms that are associated with FD. The most common symptom is a lack of tear production. When an emotional crying episode occurs, no tears will come out of the tear ducts as a result of FD. Symptoms in infants can include: breech birth (when the baby is born feet first), a weak or inability to suck (this leads to feeding problems, because the baby will not suck a bottle or breastfeed correctly), and poor tones in the child's voice. The sucking issue can cause other problems such as fluids going down the wrong tubes, causing lung infections. Normal stress in people with FD can cause: vomiting, an increased heart rate, high blood pressure, sweating, and uncontrollable negative personality changes. Other symptoms of FD include: delayed speech or walking, breath-holding episodes, poor growth rates, red blotchy (puffy) skin and hands, and reduced pain and temperature responses.
Unfortunately, there is no known cure for FD. Although there are many precautionary measures that can be taken. Such measures include: the use of artificial tears, physical and occupational therapy, respiratory system care, protecting children from injury (because of lowered pain and temperature responses), treatment of orthopedic problems (bone and spinal curving), and treatment of hypertension (high blood pressure). If you or anyone you know is thought to have FD, please consult with a medical professional immediately.
If your child has active symptoms of FD, this means that both you and your partner are carriers if FD. This is true because for the gene to be active there must be two copies of the gene (one gene comes from each parent). There is a 25% chance that a child will receive the active genes, if both parents are carriers. If you are a carrier of FD, but only have one gene of it, you will not show active symptoms of the disease. The human body contains forty-six chromosomes. FD has been proven to affect the IKBKAP Gene that is located in Chromosome 9. IKBKAP is short for Inhibitor of Kappa light polypeptide gene enhancer in B-cells, Kinase complex-Associated Protein. The IKBKAP Gene is a gene present in humans that provides instructional information to the body to make IKAP Protein. IKAP Protein is found in many cells all through the body, especially in brain cells.
There are many symptoms that are associated with FD. The most common symptom is a lack of tear production. When an emotional crying episode occurs, no tears will come out of the tear ducts as a result of FD. Symptoms in infants can include: breech birth (when the baby is born feet first), a weak or inability to suck (this leads to feeding problems, because the baby will not suck a bottle or breastfeed correctly), and poor tones in the child's voice. The sucking issue can cause other problems such as fluids going down the wrong tubes, causing lung infections. Normal stress in people with FD can cause: vomiting, an increased heart rate, high blood pressure, sweating, and uncontrollable negative personality changes. Other symptoms of FD include: delayed speech or walking, breath-holding episodes, poor growth rates, red blotchy (puffy) skin and hands, and reduced pain and temperature responses.
Unfortunately, there is no known cure for FD. Although there are many precautionary measures that can be taken. Such measures include: the use of artificial tears, physical and occupational therapy, respiratory system care, protecting children from injury (because of lowered pain and temperature responses), treatment of orthopedic problems (bone and spinal curving), and treatment of hypertension (high blood pressure). If you or anyone you know is thought to have FD, please consult with a medical professional immediately.
