We've now met a biochemical geneticist with expertise in metabolics. He has informed us that Cyrus is their first patient with this disorder (not surprising), but that we're going to reach out to researchers in Europe who have encountered this before and other experts in this specific nucleotide biosynthesis pathway (because the brain is so complex that we have to specialize that much!). Cyrus is also being put on a patient database so that doctors that are researching this can find us.
And Kyle and I are being referred for genetic testing because apparently there's a very slight chance that we aren't both carriers. There's a possibility that he copied the gene twice from one parent. (I'm not holding my breath).
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