Handbook of Genetic Counseling/Galactosemia-2
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Preparation: Review medical history[edit | edit source]
Welcome client: Contracting[edit | edit source]
- 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 | edit source]
- 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 | edit source]
- The initial illness, changes since the diet adjustment
- Current diet, current questions about diet
Review family history[edit | edit source]
- Son was tested prenatally - a carrier
- What about daughter?
- No testing for either parent
Review the condition[edit | edit source]
- 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 | edit source]
- Read labels look for the bad stuff: casein, sodium caseinate, whey, curds, lactose, galactose, creamed, butted[check spelling], 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 | edit source]
- Effect of feeding restraints on other kids/family
- Guilt issues for mom about restricting the diet
- Difficulty maintaining the diet for child
Notes[edit | edit source]
The information in this outline was last updated in 2000.