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, butteed, 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.