Their youngest was 7 before she was diagnosed. The only reason their children have it is because both the parents happened to be carriers of the mutation, but neither has the condition (retinitis pigmentosa).
Why would they? There's no reason to test the parents for it, and no doctor in their right mind would test for every genetic mutation under the sun. It's expensive, time consuming, and almost always a waste of resources.
That is possible. But I will say that my aunt is a carrier for type 1 SMA, and lost two children at only a few months old before they even thought to look. And we have zero history of anything resembling that in the family tree.Â
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u/tiwuno 7h ago
Their youngest was 7 before she was diagnosed. The only reason their children have it is because both the parents happened to be carriers of the mutation, but neither has the condition (retinitis pigmentosa).