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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

    Joined:
    Dec 19, 2020
    Messages:
    4
    https://www.nejm.org/doi/full/10.1056/NEJMc2022226
    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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