Tuesday, December 20, 2011

More About Genetic Testing and Eastern European Jewish Ancestry

I got a lot of comments about last week's blog and a lot of questions about why I didn't cover specific Jewish genetic disorders. So, here goes and if any of you want more on anything, the best way to let me know is to contact me via my website @ barbara@readybirth.com. If I don't have the information that you need, I will research it for you.

One out of every Eastern Eurpean Jew is a carrier for a Jewish genetic disease. Big numbers. These disorders are all autosomal recessive which means that both parents must have the gene as part of their own genetic make-up. Not the disease, the gene. If one parent is a carrier of the gene and the other isn't, there is no way your infant will have the disease, but he could be a carrier. If both parents are carriers of the gene they may have a child with the disease, produce a carrier child or have a child without the gene. But the important thing to remember is that it takes two parents with the gene to produce a child with the disease.

The diseases include disorders that can cause early childhood demise, chronic debility and premature death in adulthood. There is no cure for these disorders. They include: Bloom Syndrome which causes death around thirty years of age after a miserable childhood characterized by short stature, sun-sensitive facial lesions, lowered immune system and increased incidence of leukemia.

Canavan's which is a neurologic disorder that is progressive andleads to degeneration of the brain and nervous system. Early in life there is loss of developmental skills, poor muscle tone, feeding difficulties and seizures. Death usually occurs within the first two decades.

Cysytic Fibrosis is a chronic disorder which affects the respiratory, and digestive and reproductive systems. Life expectancy is about forty years after a childhood of recurrent respiratory infections and impaired digestion and thus nutrition.

Familial Dysautonomia affects the autonomic and sensory nervous systems. Death often occurs in childhood but may be delayed until early adulthood. There is impaired pain perception, vomiting and lack of tears, unstable blood pressure and body temperature and growth retardation.

Fanconi's Anemia causes bone marrow failure, a predisposition to leukemia and other cancers. Children may be short in stature, have kidney, heart and limb abnormalities, learning disabilities and mental retardation.

Gaucher Disease is the most prevalent of all the Jewish disorders. Spleen and liver enlargement, anemia, bruising, fatigue, increased bleeding, bone pain and fractures are all part of the variable symptom complex. Age at onset and severity of the disease are highly variable also.

Glycogen Storage Disease is a metabolic disorder that requires a lifetime of management with a very strict diet. It can cause low blood sugar, enlarged liver, anemia, bleeding and growth failure.

Maple Syrup Urine Disease is due to a malfunction of amino acid metabolism, characterized by urine that smells like maple syrup. Again, it must be treated with strict dietary restrictions. It can cause irritability, lethargy, seizure and coma.

Mucolipidosis is anothe rdisorder of the brain and nervous system. It is usually detected in the first year of life and is quite variable as to severity and lifespan. There may be eye and vision problems, mental and physical retardation.

Niemann-Pick Disease is a neurodegenerative disorder that causes death between two and four years of age. Failure to thrive is seen very early in childhood accompanied by mental and physical retardation.

Tay-Sachs has an average lifespan of six years. Sypmtoms usually occur by six to eight months of age and deterioration is rapid: blindness, deafness, seizures, mental retardation.

Bad stuff. Carrier testing is done with a blood sample. All childbearing Jews of Eastern European ancestry should be tested for carrier status. Best done pre-pregnancy. There is prenatal testing for a pregnancy where both parents are carriers of a disease. Request a blood test for carrier status if you are of Jewish Eastern European ancestry. Simple to do, way before you even are engaged. Get it, if you are having unprotected sex ( another blog ) that could result in a pregnancy. If you are positive have your partner tested. If you both are positive, request genetic counseling. No excuses. End of story.