Reply to Genetic Testing- do it or not do it?

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[quote=Anonymous][quote=Anonymous]OP, I'm a mom whose child has a rare genetic disorder that affects language and has many other physical manifestations.

I think there is a step missing here between on the one hand "just doing therapies" (which is a heck of a lot as you know!) and getting genetic testing.  That step is a visit with a great neurogeneticist, who will examine your child and talk to you about what you observe and his developmental pediatrician's report and his functioning.  Then that neurogeneticist can tell you whether he/she recommends genetic testing and what type.  There are many, many kinds of genetic testing.

I personally love our neurogeneticist at Kennedy Krieger but there are some great ones at CNMC as well.

Neurogeneticists are trained to see subtle physical features of genetic issues in your child's face, lips, hands, his profile, his feet, his voice, his bowel movements.  He may know which tests to order just by seeing your child.  Or not recommend anything at all, or wait five years.

I think you should consider this because adding data to your child's current profile always is helpful.  And I can tell you that even if it doesn't change your child's current therapies to know that your child has a genetic disorder (it doesn't for my child) gene therapies are being developed right now at an astounding rate.  Your child could potentially benefit in the next few years even if he can't now.[/quote]

Thanks very much for this insight PP.[/quote]

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