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Holly Carmichael Profile picture
Holly Carmichael
@CarmichaelHolly
Wife, Mom, Boss, #DisabilityRights & #raredisease Advocate, CEO @gtindependence, co-founder @epalrestat, here to change the world.
Jun 17, 2020 • 14 tweets • 6 min read
There are two ways that #PMM2CDG patients, and really any CDG patient for that matter, can help drive research. One is to enroll in available natural history studies and the second is to collect fibroblast samples for research testing. There are three #PMM2CDG natural history studies to my knowledge. Maggie is a patient in each of them and I would recommend them for different reasons.
Jun 17, 2020 • 24 tweets • 7 min read
#nof1 trial update: I’m mom to Maggie, age 6, #PMM2CDG. I’m not a doctor or scientist, and anything in this post should not be taken as medical advice.

140 days ago Maggie started taking 5mg of epalrestat 3x daily. @DanoCar9 and I are so excited to share our experience so far Most importantly, we haven’t seen any negative side effects and the drug appears to be safe. What we have seen are some HUGE improvements in Maggie’s speech, muscle tone, and balance!!

Here’s video of a recent bike trip – we’re still working on steering.