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Hello

In days after our son was born, while we’re both relieved and glad everything was going OK we were pretty devastated when doctor called me to tell me I have to go and tell my wife they suspect our newborn suffers from tuberous sclerosis. Genetic testing later on confirmed he has TSC1 mutation. We’ve learned to live with this over the years and had our second child, completely confirmed he’s TSC free. Now our older son is getting serious about getting married and starting his own family, and given our family history of tuberous sclerosis my wife and I tried talking to him about genetic counseling he should do just to make sure he doesn’t carry the mutation, but since he never had any symptoms and his insurance at the moment doesn’t cover it, is it really necessary that he does go for genetic testing?

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Hello Guest... I would think that your son should explain the situation to his fiance about the possibility of his carrying the gene, so that if they plan to have children, this will already be out on the table.  Before they actually plan to have children, they should save up for the genetic testing and have it done beforehand.  I don't know if this helps you.  Is he willing to take the chance to have a child, even if it will be born with tuberous sclerosis?  It is ultimately up to him and his fiance, but I would make sure they make an educated decision.  I hope everything works out for everyone involved!

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