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Counselling the family

Last reviewed dd mmm yyyy. Last edited dd mmm yyyy

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Counselling should be carried out in a relaxed atmosphere some time removed from the shock of diagnosis or bereavement.

Advice should encompass the clinical presentations of the disease, treatment, natural history, prognosis, complications, and a clear explanation of the genetics. The risk to the individual of developing symptoms, the risk to future offspring, and the way in which the disease is transmitted, must all be explained in simple language.

Cautiously, one must probe the understanding of the couple about the problem: have they any misconceptions which need rectifying, or any misplaced guilt?

Finally, the reproductive options of the couple must be discussed in an unbiased manner. If required, contraceptive measures should be arranged, and the possibility of in vitro fertilisation or adoption investigated.

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