Well, it has been a little bit!! Sorry about that folks. We did updated videos in October (which was when Blaise started on what we thought at the time was full dose) and in my mind I made a post, but obviously I did not! **Side note** If you want to subscribe to my YouTube channel you will be able to see all of Blaise’s progress videos, even if I haven’t added them to a blog post. Also, I do not always include EVERY video in the blog post, so there are “bonus features” if you go to the channel! That link is: https://www.youtube.com/channel/UC9tpuaRNexTZKk7n02hj7qg
So let me catch you up on where we have been trial wise for Blaise! So the drug (AT-007) that Blaise is on is currently in a clinical trial for children with Galactosemia. When Blaise started his single patient trial, there was not a lot of information from that trial regarding dosing in children as young as him. During the course of Blaise’s dose escalation, we learned that Blaise would likely need a dose higher than we thought (gotta love kids making everything complicated). So while we thought we were going to be on full dose in October, we actually just got to full dose in the beginning of January 2022!
At this point Blaise has been on full dose for one month. He has tolerated every dose escalation very well, and this one is no different! Additionally, based on his progress, just in the past 4 weeks, I am cautiously optimistic that it might actually be helping! Throughout the trial, Blaise’s liver enzymes (AST/ALT) have been trending down from baseline. If you recall, many patients with PMM2-CDG present with higher than normal liver enzymes. For reference, when Blaise started this trial, his liver enzymes were regularly between 3-4x normal. That was really where his baseline was. While liver enzymes can fluctuate with illness and other factors, they have been trending in a positive direction, and now generally sit between normal – 2x normal. This is a HUGE improvement! Also, he has two coagulation factors that have been abnormal his entire life, and those have also trended in a positive direction since the start of this trial and are now just shy of normal range! These coagulation factors can also fluctuate with illness and other factors, however, the gradual improvement has been amazing to see.
And possibly even more important (and more interesting) than lab improvements, are his strides in movement and speech! I will not re-post the “before” videos, but if you want a direct comparison, just check my YouTube channel (link above)
In past videos, I ask Blaise to repeat words to me. I would ask him to say Mama, Dada, and Nana, because those are the names he could reliably say. Not only has he expanded his vocabulary with more grandparents, and even great-grandparents, but I can ask him “Who is this?” and he can respond appropriately. You will see this trend in several of the videos, that he is able to understand the questions you are asking him, and he can react appropriately and accurately. Also, you will notice he reliably can say the first syllable of each name, not necessarily the entire word as I say it. Two outliers are Chief- which he says “da-eeeee” and he has the most trouble with Mimi. He has not yet mastered the sound “me”- but hopefully that comes soon!
His receptive language (what he understands) continues to be far stronger than his expressive language (what he can communicate to you), but even his spoken words have really taken off. In this video I can show him a picture and he can tell me what it is, rather than me asking him to repeat what I am saying. He just started saying his first two syllable word in the past two weeks (carrot). You notice he really pauses on apple. He thinks very hard and tries to form his lips for the “p” sound. You can see him working/thinking hard to make that sound. Again, hopefully in the next update he can say “apple” with ease!
Drumroll for Blaise’s receptive language!!! His most favorite activity these days is flashcards. I am very certain that if I let him do flashcards all day, he would. Once we get to the end, he always yells “more!!”. His attention span on activities he enjoys has improved dramatically, and his desire to learn is amazing to see. In this video you can hear me ask Blaise to grab a card with a particular picture on it. He is able to understand my question, identify the object, and grab the card with ease! Getting some fine motor skills in during this exercise 🙂
Speaking of fine motor skills, let’s talk about his ability to utilize utensils! In August when the trial started, Blaise could not independently and meaningfully use utensils. He could hold a fork and use to feed himself if I put food on the end. But he could not use a spoon and properly clear it with his mouth independently. In this video, you will see that Blaise initially brings the spoon to his mouth sideways (like in the October video which you can see here https://youtu.be/VqSLMyfcQek) and then corrects and puts in mouth correctly. (You can also watch part 2 of this video on the channel and see how he does an even better job!) He then uses lips on spoon and his hand to properly clear food from it. We were so excited for him to get food onto a utensil by himself in October 2021, and now are over the moon that he can clear the spoon with his mouth all by himself (for first time ever in January 2022!). Now we just have to work on not spilling the contents of the spoon on our shirt 🙂
Last but not least, here is Blaise climbing up the stairs. As compared to August, he is much improved. He is able to move faster and has more stability with fewer slips/mom interventions. He only stops to tell big brother to get out of his way! I plan to get some new gait trainer videos, but it has been really cold and snowing in NC so we haven’t been able to get outside for them! He continues getting stronger in his gait trainer, and continues to work on stamina and steering!
Thanks for reading about Blaise’s progress in this trial. We are so excited to watch him continue to grow and hope this will be something others can benefit from as well! For now, I will end this post with a sweet Blaise smile, because that is what y’all are here for anyway….don’t mind the banana face 🙂
