Handbook of Genetic Counseling/Galactosemia-2

Galactosemia Preparation: Review medical history Welcome client: Contracting Review the medical history and family history Talk about the condition itself/ how child is doing with it Talk about nutritional issues What are your major concerns? Dietary guideline and restrictions. (make sure DR. Leslie understands Mom has gotten many different opinions from her old center and she wants straight answers that won't change. The multivitamin for the calcium Review medical history The initial illness, changes since the diet adjustment Current diet, current questions about diet Review family history Son was tested prenatally - a carrier What about daughter? No testing for either parent Review the condition Galactosemia is a condition where the sugars in the body can not be broken down. Specifically, the body can not break down galactose. Because Lactose is a larger molecule that contains galactose, it can not be broken down either. When the sugar can't be broken down, it creates a buildup of different substances that can be toxic to the body. Treatment, as you know is to eliminate lactose and galactose from the diet. Autosomal recessive Risks to your other children Risks to her children (definite carriers) Review the dietary restaints Read labels look for the bad stuff: casein, sodium caseinate, whey, curds, lactose, galactose, creamed, buttedsimilar to butted August 2022, breaded vegetables, dehydrated and canned soups. Commercial cakes, cookies, candies, and puddings. Read labels for the good stuff: lactate, lactic acid, lactalbumin, stearoyl-2-lactylate Supplementation with calcium and vitamin D: recommend a multivitamin Possible counseling issues Effect of feeding restraints on other kids/family Guilt issues for mom about restricting the diet Difficulty maintaining the diet for child Notes The information in this outline was last updated in 2000.