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.
Her improved balance and stability in a sitting position has been really impressive and I think it’s allowed her to better focus on some of our educational activities because she isn’t spending her energy focusing on balance as much.
She is cruising furniture much more stably and even sometimes turning around or lifting one leg in the air in a move she calls “ballerina.” Her walking in her walker is more controlled and I’m hopeful that we can eventually use this as her primary mode of transportation.
See her using her walker from our latest Mayo Clinic trip for the 3-month update on epalrestat:
Compared to pre-acetazolamide about 9 months ago:
Compared to pre-acetazolamide about 9 months ago:
We’re seeing improved clarity, increased quantity of words, and more thoughtful content in verbal communication. For example, Maggie was playing hide and seek with her older brother Dexter and he said, “Your turn!"
Normally, Maggie would have just parroted him and said “Lor tur!” - but she didn’t. Instead she said, “My tur! You go hide and I will find you!” We’re still working on final consonant deletion in speech therapy but her speech has really blossomed since starting epalrestat.
School personnel noted this as well. Maggie started epalrestat at the end of January so she was able to spend the first thirty days or so in class. The aide in her classroom shared that during an exercise.
They were practicing the phrase “We go to," selecting images like the park, the pool, and the zoo, and saying the sentence. Maggie opted to say, “We go to the zoo because I like to see the animals!”
The third example I’ll share is that while hanging out watching a movie I got up to refill my water. As I was walking to the kitchen I asked Dan if he’d like me to get him some water and he said yes. Maggie pipes up and says, “I want water as well!”
Maggie had taken acetazolamide for 6 months last year and we saw gains with that drug. We had to stop taking the acetazolamide to start epalrestat and I was worried about potential regression noted by Mercedes Serrano when patients stopped acetazolamide.
You can watch Mercedes Serrano update on acetazolamide at the 2020 Conference here: mededonthego.com/Pediatrics/Vid…
We not only didn’t see regression but saw some really big gains when starting on epalrestat.
We not only didn’t see regression but saw some really big gains when starting on epalrestat.
We notice only a slight improvement in the “pata, pata” test that you see in Mercedes Serano’s presentation. I don’t think in Maggie’s case it fully demonstrates the significant improvements we’ve seen in her speech overall.
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Probably one of the biggest gains in balance and control we’ve seen is no more face plants! Maggie’s primary mode of transportation around the house is 4-point crawling and about 5-6 times per day when she was tired or just not being careful enough she would face-plant.
It’s awful to see and she never gets hurt too badly because she’s pretty low to the ground but it’s just sad to see her cry in pain and frustration. Epalrestat has made it so she can crawl stable enough to no longer face plant!
It seems like something so minor but for her quality of life it’s a huge win. Imagine banging your nose 5-6 times/day!
In addition to all that real-world evidence, at Maggie’s 3-month visit the results of several lab tests confirmed that epalrestat is working.
In addition to all that real-world evidence, at Maggie’s 3-month visit the results of several lab tests confirmed that epalrestat is working.
A lab test that measures the glycosylation of a protein in the blood called transferrin showed a trend toward readings in the normal range. Another lab test that measures a biomarker in urine showed a strong positive result.
Finally, a scan of Maggie’s liver showed a healthy result that was actually better than the last time this test was administered when Maggie was 3 years old.
We’ve been extremely excited by the results we’ve seen.
We’ve been extremely excited by the results we’ve seen.
I honestly didn’t know what to expect when we first ventured down our PerlQuest with @eperlste and @PerlaraPBC. Part of me expected nothing and part of me thought we’d find a magic bullet to cure CDG. It ended up being somewhere in between.
Epalrestat isn’t a cure for #PMM2CDG but I believe that it is a potential treatment that can improve quality of life. I’m not giving up hope that someday we will cure CDG and I hope it’s in Maggie’s lifetime.
I know it will be hard to undo damage done and that her cerebellum is already significantly atrophied. I will still hope. As a rare disease parent hope is the fuel that drives us. Sometimes it’s the only thing we have. I’ve found that I have to balance hope with acceptance.
I have to accept there are some things we may not be able to do for Maggie, some things she’ll never get to experience that I so very much wanted for the little baby girl that grew in my womb.
She still has big hopes and dreams – she wants to be a doctor (like Dr. @emoravakozicz) and a ballerina. We hope that she will be able to do those things but also have acceptance that it may be a difficult path or may not happen at all.
