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Child optimistically cured of t1d, unique case with multiple conditions

Discussion in 'Research' started by RockReady, Dec 22, 2020.

  1. RockReady

    RockReady New Member

    Dec 19, 2020
    New England journal of medicine letter. Ifyou don't have access just go to sci-hub.se and copy the link.

    Interesting case where the boy was post honeymoon and recovered with Ruxolitinib 10mg 2x per day.
    Because he had multiple conditions the doctors did a whole genome sequencing. They run about 1000 dollars and I think it's rare to get insurance to cover it without a strong doctors order. Anyway they found he had a STAT1 gain-of-function, whatever that means, and prescribed Ruxolitinib.

    I don't think this will help the large majority of kids and adults with t1d. I just thought it would be interesting to share.

    I am also curious if anyone has experience ordering a whole genome sequencing. Seems like there are a lot of shady companies offering the service. Plus the data isn't much good anyway without a trained person to analyze it.

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