Handbook of Genetic Counseling/Galactosemia-2

Galactosemia

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, butted, 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