Handbook of Genetic Counseling/Galactosemia-2

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Galactosemia

Preparation: Review medical history[edit]

Welcome client: Contracting[edit]

  • 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?[edit]

  • 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[edit]

  • The initial illness, changes since the diet adjustment
  • Current diet, current questions about diet

Review family history[edit]

  • Son was tested prenatally - a carrier
  • What about daughter?
  • No testing for either parent

Review the condition[edit]

  • 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[edit]

  • 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[edit]

  • Effect of feeding restraints on other kids/family
  • Guilt issues for mom about restricting the diet
  • Difficulty maintaining the diet for child

Notes[edit]

The information in this outline was last updated in 2000.