Soon after KJ Muldoon was born in the summer of 2024, he was diagnosed with a rare genetic disorder that is fatal for about half the infants who are born with it.

Until now, the only effective long-term treatment for the rare metabolic disease known as severe Carbamoyl Phosphate Synthetase 1 deficiency, or CPS1, had been a liver transplant.

Instead, doctors at the Children’s Hospital of Philadelphia told KJ’s family they could try something never done before. They would use a technology known as CRISPR, a personalized gene-editing therapy, to find the one uniquely mutated gene out of 20,000 in his little body, and fix it.

He became the first known patient in the world to be treated using CRISPR personalized just for him, according to a news release from Penn Medicine. His case was published Thursday in the New England Journal of Medicine.

  • Oka@sopuli.xyz
    link
    fedilink
    English
    arrow-up
    8
    arrow-down
    13
    ·
    6 days ago

    Hey, your new baby has a high chance of dying, I’d say a coin flip, but i know how hard this might be for you. Luckily, for just $1,999,999* (rounded down) we can go in there and fix it for you. No pressure, but your kid is gonna die. Seriously, no pressure, but its highly recommended so you dont kill your child.

    • JAWNEHBOY@reddthat.com
      link
      fedilink
      English
      arrow-up
      16
      ·
      6 days ago

      I mean the alternative was a liver transplant, and I have no idea how an infant liver transplant would even work. The only way doctors and researchers were ethically going to be able to treat someone with CRISPR is exactly this kind of situation

      • medgremlin@midwest.social
        link
        fedilink
        English
        arrow-up
        1
        ·
        5 days ago

        Organ transplants for infants typically come from other infants. The ones that have organs to spare are the ones that are functionally dead for other reasons. I used to work at a children’s hospital in the ER and I’ve seen multiple infants end up brain dead from trauma and someone had to ask the family if they would donate their child’s organs to save other children.

    • unexposedhazard@discuss.tchncs.de
      link
      fedilink
      English
      arrow-up
      12
      arrow-down
      1
      ·
      6 days ago

      There are valid reasons to not use certain procedures, but price is not one of them. If we stopped researching medical science just because treatments are expensive at first, we would never have made it this far. It just takes time (and regulating the greedy companies) to make stuff cheaper.

      • ☂️-@lemmy.ml
        link
        fedilink
        English
        arrow-up
        1
        ·
        edit-2
        5 days ago

        regulating the greedy companies

        and how is that going for us?

        if current reality is any indication, price will be inflated on purpose to pad executive pockets and thats cruel as fuck.

    • Omega@discuss.online
      link
      fedilink
      English
      arrow-up
      2
      ·
      5 days ago

      I’m sure this is just a way of coping with the awful system in USA, but tone indicators help others understand