1. K Ferd K Ferd United States says:

    Sadly, this paper just set the boys and men living with Rett-causing mutations and their caregivers back years. Please do more research on Rett-causing mutations in HUMAN males. It's a shame that the very valid point of using female mice in Rett research was made at the expense of discounting the need for studying males with Rett. Phrases like "their condition is different" and "they (females) are more relevant" about mice strongly support the continuous problem of viewing boys and men with Rett-causing mutations as unworthy of inclusion in Rett research studies. Why is that? Could you look at my son, a teenager diagnosed with CLASSIC RETT SYNDROME, and tell me he is not relevant? If he were your boy, it would be RELEVANT. I have known many families over the years whose boys and young men have passed away due to their Rett symptoms; nearly all lived well beyond the age of infancy. Were their boys relevant enough to consider for Rett research, just as all our girls and women with Rett syndrome?
    Additionally, this paper failed to acknowledge that males can be diagnosed with mosaic Rett mutations despite numerous journal articles supporting this fact. Regardless of classic or atypical Rett diagnosis, every male with a Rett-causing mutation is equally relevant to his female counterparts. Could these authors not have written it as "female mice need to be studied as well" without making the bold implication that males with Rett syndrome have an entirely different syndrome? How many families of males with diagnosed Rett-causing mutations were interviewed before making these statements anyway? This concern might seem small to you, but words like this GREATLY affect boys like my son every single day. Why make a child with Rett syndrome's life even harder?

The opinions expressed here are the views of the writer and do not necessarily reflect the views and opinions of News Medical.
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