Discover and read the best of Twitter Threads about #pmm2cdg
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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.
1) @NIH – this is a week-long bear of a trip but they go through every system top to bottom. I am happy to send anyone the schedule from when Maggie attended in 2017. I learned a lot about Maggie on this trip, for example – I didn’t realize that she had some minor hearing loss.
#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
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.
Here’s video of a recent bike trip – we’re still working on steering.
Maggie can sit more controlled, not as wobbly like before. See videos below, first of Maggie getting ready for Kindergarten practicing her letter names and sounds, then of her just recently where we practiced sight words in almost the same sitting position.
