Posts

Posted on

Keep on Blaising…

The last time we gave you all an update on Blaise, he had just reached the 6 month milestone on AT-007 (also known as govorestat), way back in July of 2022! Needless to say, a LOT has happened since then.

Blaise has continued on this investigational drug provided to him through Applied Therapeutics since that time, and appears to be doing quite well overall. While it is difficult to draw conclusions from this N of 1 trial, we continue to see no untoward effects from the drug.

We see that he continues to progress in all of his abilities, and over the years we have definitely seen improvements in receptive and expressive speech, as well as both his fine and gross motor skills. We recognize that this likely would’ve happened with or without being on a trial- because kids grow and develop cool new skills- especially in the early years of their lives 🙂

Check out Blaise riding his bike all by himself!

Here is one of Blaise building with magnatiles!

Building Magnatiles Part 1! See Part 2 on the channel!

Here are a few of his gross motor skills (standing and taking steps)

His therapist tells me he can do this for 30+ seconds…but I still haven’t seen it!!
He has made so much progress- check out the videos from end of October on the channel!

However, there are some more objective things that we think might not be happening without this medical intervention. For example, Blaise’s most recent labs resulted with everything within normal limits! This has never happened in his life! Most importantly, we know this medication is not harming him based on his lab work, and that is good enough for us to keep going. Also- one of the best things about this medication is that it is a strawberry flavored oral liquid given once daily. Blaise doesn’t put up a fuss taking it in the morning, and we do not have to worry about administration at school or keeping him up later to avoid a dose in the middle of the night.

Speaking of school, Blaise has been very fortunate to have been able to attend Sandhills Children’s Center for his pre-K (and pre-pre-K). This has been such a wonderful environment for Blaise. Classrooms are a mix of typically-developing children and children with disabilities of all different kinds and severities. This means that Blaise is able to interact with other children of all different abilities on a daily basis, and his teachers are all very experienced with children of all abilities. He loves school, and this year he takes the bus home (which might be the favorite part of his day. He is always beaming and exciting to tell us about his bus ride!). Additionally, he receives regular therapies (PT, OT, speech therapy) during the day at the center. This is so nice because trying to fit 6 therapies a week into our schedules after school would be a certified nightmare!!! We have been so pleased with his experience there, and will be sad when he has to leave… for KINDERGARTEN. It’s hard to believe that he will indeed be starting kindergarten this fall. (I’m not crying, you’re crying😭😭?!)

Selecting the right school for the boys has been a huge of a challenge for us (I think the sentiment has been ‘We plan, God laughs’). Navigating school systems that are dramatically different from what we grew up with, combined with the added complexity of ensuring that Blaise’s needs are met has been hard. In an ideal world, we would have access to a school that teaches our children in a manner consistent with our values, incorporates faith into the curriculum, and provides ample extra-curricular activities to explore interests and abilities outside of a classroom setting. As no such “perfect” school exists in our area (and possibly anywhere) it has been a long and winding road in order to identify a school that best meets these criteria, knowing that we will need to remedy any deficient areas outside of the school setting.

After a pretty exhaustive search, I took a little bit of a gamble and signed big brother up for a lottery for admission to a charter school in our area. The school seemed to have the best mix of qualities and capabilities, operating as a bit of a hybrid between public and private schooling. We felt like it would give V a chance to excel while also being able to meet Blaise’s needs. As luck had it, V was admitted to STARS (Sandhills Theatre Arts Renaissance School), and he has THRIVED this past year in Kindergarten. Watching him grow this last year has brought us so much joy. And of course the best part is that come Fall, Blaise gets to join his older brother. Finally only one school drop-off! They will both get to ride the bus to and from school each day, and we’re so excited that Blaise will have his big bro looking out for him at school (because after all, V is his favorite person!)

Posted on

Making a Home

After returning from Blaise’s intensive in Boston, much of our focus shifted to the “new” old house we had decided to take a chance on and make our own. Much has also been going on with regards to Blaise and his N of 1 trial as well as with Kara and her ever-expanding role in the rare disease community (more on all that later), but our day-to-day life was very much occupied with our massive house renovation. Does every house project turn out so much larger than planned?!

Let’s rewind a bit. After learning of our move to North Carolina in early 2019, Kara had had enough of moving and wanted a home where we could plant our roots, with no intention of moving any time soon. So we took a bit of a leap at the time and found ourselves a wonderful home in a great community that was a short commute to Carl’s workplace. All of this, of course, was before we learned of Blaise’s diagnosis. While the house was great, we couldn’t ignore the fact that the living arrangements were less than ideal for a child with a disability. Our children’s bedrooms were upstairs, which meant a lot of carrying Blaise up and down throughout the day. It didn’t help that those stairs were a bit steep, and even our typically developing son had slipped and fell down a few steps on more than one occasion. We knew this would become an issue at some point, so alas, we started looking at houses all over again.

Just before Thanksgiving 2021 we finally walked into a house that felt like we could really make our own. We made an offer, had it accepted, and immediately started making plans. The “new” house was built in the early 1980’s, and had one owner that entire time. It was single story living, but with an unfinished upstairs that we envisioned as a great guest space or future office. Best of all, it felt like a time capsule from the decade in which it was constructed. Colorful paint, different shades and textures in every room (and I mean EVERY room, including bathrooms), and even chocolate brown matching jacuzzi tub, toilet and bidet in the master bathroom. It needed a major facelift. We found a contractor we felt good about, and came up with an ambitious plan to basically gut the entire house, reconfigure the downstairs to create a more open main living space, and begin work on turning the upstairs into livable space. We intended to do some work ourselves to help contain the budget. And while the project was ongoing we had rented a 2 bedroom apartment to ensure we had plenty of “family time” throughout it all.

We initially planned on the project lasting around 9 months… It took closer to double that. Budget of course increased along with the timeline, which led to us performing more and more work ourselves to help with cost. What was envisioned as some hobby-ish DIY became essentially a second full-time job during the renovation, absorbing much of our evenings, weekends and vacation leave. There was plenty of frustration, exhaustion, sore limbs and blood, sweat and tears. And the apartment life even had our sociable older son wishing he could just have some alone time. But ultimately move-in day arrived and we set about finally turning this house of our dreams that we had agonized over for so long into a reality. And I must say, it turned out pretty darn great. Walking around the house on a day-to-day basis it’s hard not to take pride in so many little details that we dreamt and brought to life. I think there’s a bit of each of us built into the house, and Blaise is certainly no exception. A few such details include a below-counter microwave drawer, ovens with side-open doors that allow easy access, a curbless (aka walk-in) shower and wet room that can accommodate a wheelchair if needed, or the extra-tall baseboard to protect our walls from Blaise’s various walking devices. We couldn’t be happier with the end result and couldn’t be more proud of the work we put in to making it so.

Before…

After…

Along the Way…

Posted on

6 Months on Full Dose and Still Going Strong…

Well… I apologize for not sharing an official “Week 3” update from our NAPA trip! We were so very pleased with the results, and cannot believe the progress Blaise made in just three weeks, and continues to make at home.

When we came home from Boston- we immediately entered moving mode!!! And that has pretty much been what we have been doing until now! We are moving locally, and had to get out of our old house and move to an apartment while we wait for the renovation on our new home to be complete! I plan to share more about our house- but that is for another day!

Today, I want to talk about Blaise’s 6 month update. While Blaise is coming up on one year on the experimental aldose reductase inhibitor, AT-007, he has only been on full dose of the medication for 6 months. You can check previous posts if you want to learn more about this trial with a drug from Applied Therapeutics. Blaise has been making great progress , and has had several little “milestones” recently that I am very excited to share!

We have figured out recently that Blaise can count to 10, and is starting to use more two syllable words and multiple words to speak a sentence. For example- he saw his brother’s water bottle on the floor and told me “V wa-bah” ie- V’s water bottle! previously if he just saw a water bottle he simply said “wa”. He also could only drink out of a bottle or a straw, and I spied him actually drinking out of a plastic water bottle at V’s swimming lesson. Even though he has a little water coming out of the corner of his mouth, he actually manages to drink from the bottle without spilling it everywhere and swallow it! Woot woot!

Blaise has been doing AMAZING working on gross motor skills- including getting from the ground to standing, sitting to standing, opening doors, and doing much better in a gait trainer! While I don’t have a video, his PT mentioned that they were practicing sitting to standing and he stood on his own for 15 seconds!! This is a massive improvement from a year ago. He also can plant both feet from being seated on the ground and stand by himself- granted he only holds it reliably for a second or two. Often he gets distracted thinking standing and crashing is a game so we don’t hold for very long- but this is amazing. He also will stand up on his own and stand with his back against the wall. We are so happy with these improvements! Again- a HUGE improvement from the boy who barely could pull to stand.

He thinks this is a fun game and doesn’t like to stay standing- but we will take it!
Getting into the stander to brush his teeth!
Blaise now gets himself to standing and opens doors- we have to keep the front door locked because he tries to escape! No more getting him out of bed in the morning- he comes to me!

Blaise is also becoming more interested in walking in public places. This video of him pushing the grocery cart in his gait trainer. He was so proud of himself! Full disclosure- time #2 we did this he WAS NOT having it and did not make it far walking. Luckily Carl was there and could take him out to the car before a major meltdown! After that, the third time we went to the grocery store, I did not bring the gait trainer in. However- Blaise refused to sit in the cart. He looked at me and pointed to the ground and said “WA!” I said “You want to walk?” and he replied “YEAH!”. While it was THE SLOWEST trip EVER through the grocery store- it was definitely the most rewarding. Blaise walked pushing the cart with nothing but his AFOs and me providing the occasional catch and steering the cart. I would pick him up to grab things off of the shelves and he was so happy. Obviously- I have no video of this endeavor because my hands were full- but I will always remember it!

The cutest grocery shopper!

I also must share my excitement with how much progress he is making with walking (just in these past 6 months)! His usual gait trainer provides both trunk and seat support (he has what looks like a bike seat under him to make sure he doesn’t fall through). This week, his PT tried using a behind the body walker, with absolutely no support for trunk or seat. This is a GIANT milestone for him- and I know he will only improve from here. I wasn’t sure if Blaise would ever be strong enough to use a behind the body walker. This video makes a mama heart SO HAPPY, because if he is doing this at 3 years old- the sky is the limit!

I would also be remiss if I did not share how the “inside” of his body is working- which is super important!! To date, Blaise has received the medication, AT-007, which is an oral liquid once daily since August 2021. Not only have his labs indicated that the medication is safe for Blaise, we have seen positive trends in many of his labs, not to mention amazing weight gain! Of note- we believe Blaise had hand, foot, and mouth a few weeks ago. He had a fever for several days, and eventually developed rashes on his extremities. Blaise’s first ever hospitalization was in August 2020. He also have a fever for several days, required IV hydration, and we spent several days in the hospital. We later learned he had HHV6- a very common virus that usually kids are able to fight off, but it made him very, very ill. The fact that he was able to fight this off on his own without any additional intervention is a HUGE win, and I am so happy that in the future my first move after he has a confirmed fever doesn’t necessarily have to be to pack a hospital bag.

All in all- The last 6 months on full dose has been remarkable to watch. We are so proud of our Blaisey-Boo, so thankful for his geneticist Dr. Elizabeth Jalazo at UNC who has dedicated A LOT of her time to this trial, and of course, to Applied Therapeutics, for creating this medication and making this opportunity possible. We really hope Blaise’s experience paves the way for other kiddos to try this in the future!

Where did my baby go?!
Posted on

NAPA Week 2 (Part 2)

As I mentioned at the end of Part 1- Blaise REALLY took off at the end of Week 2 (Days 9 & 10). He had a rough few days in the middle of the week- but really turned it around at the end of the week.

Since Nana was here, I was able to get some more videos of DMI (and on Day 9 I had to be hiding around a corner to avoid meltdowns!)! These are just so fun to see as they are different every day, and the work is extremely challenging! Here are some awesome videos from day 9 in DMI. His therapist says he is getting stronger, is bending his knees more readily, and she is able to give him less support during many exercises (for example, supporting him at the ankles instead of knees or at knees instead of thighs. Basically- the lower on the body you provide support, the harder it is for him as he is supporting his own weight).

Day 9 Videos:

https://youtube.com/shorts/jUl-E43ZnzY

https://youtube.com/shorts/ERGHUbOnvSM

https://youtube.com/shorts/sT-UAy4YWV4

Probably the highlight of Day 9 was Blaise moving- and moving the best and longest I have ever seen- in a gait trainer! He was having a blast walking all over the gym chasing Nana. So much so that when the session was over he cried and shouted “MORE”! This brought me to tears, as Blaise has NEVER been happy to walk for extended periods of time. It is always a struggle just to get him to walk into school, and I think it is just because he is faster crawling so it is what he would prefer to do. But seeing this sparkle in his eyes gives me hope that he will be able to get around upright someday- and hopefully it is sooner rather than later!! Hope you enjoy this giggly boy in these videos!

https://youtube.com/shorts/TYDqIrj33jM

https://youtube.com/shorts/p-HMSMBXO08

Day 10 Videos: During week 1 , Blaise was totally beat come Friday, and his body was very tired. However- on Friday of week 2- Blaise was a ball of energy, and was in a particularly silly mood. He sang, he danced, and made everyone laugh, it was a great day to end the week! I will share a few of the videos here, but the rest are on the YouTube channel if you want to see more!

https://youtube.com/shorts/YUlo-43TiMA

https://youtube.com/shorts/RyPCm5M0tVs

https://youtube.com/shorts/lqsRHvRDI8k

https://youtube.com/shorts/S2HKeuEdGD8

Since Nana was with us for the weekend also, we did a little exploring in downtown Boston and went to the New England Aquarium!! Had to share the coolest photo we have from that day- Nana and Blaise looking at a sea turtle! On to week 3!

Posted on

NAPA Week 2 (Part 1)

Well we have finished week 2, I cannot believe we are about to head into our third and final week! Thanks to all for the prayers, thoughts, and good vibes you have sent our way- we definitely have felt them, especially when we needed them most!

I’d like to give you a quick run down of all of Blaise’s sessions each day and what is happening during them-

Session #1: Blaise starts the day with speech therapy- and speech therapy for him just looks a lot like playing and supplementing the play with word repetition and also using his “talker”. His “talker” is a device that has a program that Blaise can use to help communicate. His therapist here has gone above and beyond programming the device for us and utilizing it during his sessions. Blaise usually says the first syllable of a word- if that- so sometimes it is hard to know what he is saying and therefore he gets frustrated at times trying to communicate. With continued use and learning- Blaise will be able to use the talker to help communicate when his verbal language is lacking. It is also a nice tool because most times Blaise repeats the word after the talker says it- and that is amazing for his development!!!

Session#2: Blaise’s next session is called DMI- or Dynamic Movement Intervention. During these sessions Blaise is not wearing his AFOs (his leg braces) or any other supportive equipment. This is the hardest session for most of the kids-and Blaise is no exception- because the exercises change every. single. day. He never does the same exercise twice in this session- which is pretty remarkable given he has 15 days x 1 hour sessions. As they say- practice makes perfect- and you can imagine the frustration you might feel if you were told you needed to master a movement, but only got 3-5 repetitions in a row to do so. I was thrilled to get a few more videos during this session this week so you can see the amazing work these therapists do with him each day.

Sessions #3 & 4: Blaise’s final two sessions each day are in the NeuroSuit- which you have probably noticed as the cool outfit in some of the videos. The NeuroSuit frames the body and provides support and resistance simultaneously. This is supposed to help facilitate proper movement and provide additional weight bearing distributed strategically throughout the body. Now in these two sessions the therapists work together and find movements they will work on in these sessions. Each therapist sticks to the same exercises each day. This is great for Blaise because unlike the unique challenges DMI brings, during these sessions he can actually feel more confident and stronger as he improves in these movements each day. Not that he never throws a tantrum- but he seems more agreeable overall 🙂

Now about Week 2- Blaise started off Week 2 very strong- having the weekend to rest and recover did him a world of good! I was able to get a lot of videos of Day 6 and Day 7 because he was happy, cooperative, and looking very strong! I know in Week 1 I was not able to post a lot of pictures of DMI or Dynamic Movement Intervention. As I mentioned this is his hardest session, and usually I am not able to video during it as I am showing him videos or playing music to distract him. Here are some links to a few videos- but check out the channel for more!

https://youtube.com/shorts/dPFHVkDofaQ

https://youtube.com/shorts/Ku_0lEcUQGY

https://youtube.com/shorts/qISvEKHUcPs

https://youtube.com/shorts/pPhcsWH7lv0

However- Wednesday and the beginning of Thursday were very difficult. Blaise was quickly getting frustrated during exercises, Mama was running out of tricks to try and distract him, and he seemed to be turning to me as a “crutch”. What I mean by that is he would scream and cry my name and want to be held. And the instant I held him he stopped crying and smiled- but then the instant I put him back on the ground for an exercise, he was screaming and crying again. On Wednesday I had to leave the room for about 1.5 of his sessions because my presence was not really helpful. I certainly felt a little defeated that I couldn’t help make the sessions easier, and that I couldn’t be fully present to watch and learn from the therapists.

Luckily for us- we had Nana to the rescue!!! Nana had very graciously already planned to come to Boston to stay with us for a few days during this intensive- and it has made all of the difference in the world! On Wednesday evening we picked Nana up from the airport, and she was at the sessions on Thursday and Friday with us. When Blaise was starting the “crutch” behavior on Thursday, I left the room and Nana stayed with Blaise and the therapist. That change of pace definitely helped, because Blaise did amazing with her.

I think having Nana here really turned things around for Blaise for the end of Week 2. Because the second half of Thursday and all day Friday- Blaise made amazing strides. But you will have to wait and see that amazing progress in the Part 2 post (because I’ve apparently reached the YouTube upload limit for now- lol).

Posted on

Week 1 is Done!!

Hello all! Blaise has completed Week 1 of intensive therapy at NAPA Center. (If you have no idea what I am talking about, please see the post titled “I Think I’ll Go to Boston” to get caught up on what Blaise and I are up to!). Overall, I cannot believe what a trooper Blaise is. He is such a fighter, and has powered through frustration and exhaustion during these days. I mean this kid has a legit part time job – because he working in therapy 20 hours each week (times 3 weeks!)!

About Day 1- It was not super great. It was very different from what Blaise is used to and his frustration could be seen during these sessions. Also, to be fair, I was also still learning the ropes and how to properly distract him. So it was definitely a learning day. Here are a few videos of Day 1:

https://youtube.com/shorts/FC_NkxGA4eI

https://youtube.com/shorts/lDb9YOy_b30?feature=share

https://youtube.com/shorts/P-YanKsnwpY?feature=share

Day 2 was better- we both got into the swing of things and he was being such a ham. Blaise is the entertainment for many of the other kids working around him- so at least its therapy and a show 🙂

https://youtube.com/shorts/dUa3wvGutcI?feature=share

Blaise kept chugging along Days 3&4. If you want to see a few videos of these days- just head to my Youtube page to check it out. We use my phone to distract Blaise during many of the sessions, so there are not a lot of opportunities for me to take video because we are distracting him with encouraging videos from his brother or cousins, or dog videos from our family who has them!!

Day 5 Blaise’s body was TIRED. While he still did the therapies with little crying and stayed focus, he required more support from this therapists. For example, earlier in the week they could hold Blaise lower on his legs because he was supporting his weight, but on Friday they had to support him a little higher because he was pretty wobbly. But I am very proud of him for not giving up and finishing Friday STRONG!

https://youtube.com/shorts/wLMPU56kgEA?feature=share

Here we go into week 2!!!

Posted on

I Think I’ll Go to Boston…..

Well friends, Blaise and I leave today to go to Boston for three weeks! While a change of scenery will be nice, our trip to Boston is not exactly a vacation. Blaise is going to intensive therapy at a NAPA Center there- so basically Blaise is going to Boot Camp. It makes me laugh sometimes when strangers overhear me talking about taking my son to intensive therapy. I get some very judgmental looks, that I assume are only because they don’t understand what kind of therapy I am speaking of- nor do they know that my son is 3 years old- lol. But all joking aside, let me share with you a little bit more about this.

I first learned about NAPA Center (https://napacenter.org) at my very first CDG conference shortly after Blaise’s diagnosis. The woman who founded the first center in LA had a son who had a near drowning experience, and was left unable to walk or talk afterwards. The doctors told her that he would never walk or talk again- but she didn’t accept that for an answer. She took her son all over the world in search of different therapy techniques, and once she found one that changed her son’s life, she wanted to bring that opportunity to the USA. These centers have highly trained physical, occupational, and speech therapists who utilize novel equipment and techniques that provide big results in a relatively short period of time. Some estimate that the gains children can see over these three week periods can equate to the progress they would make over 6 months to a year of typical therapies. Even Blaise’s teachers and therapists at school mentioned to me that they have had students in the past that did these programs and came back a whole new kid.

Now obviously, I am trying not to get my hopes up too much, but I am really hoping for some big gains over the next three weeks. Blaise has been on full dose of AT-007 for about 4 months now, and he continues to improve. His speech has been great- he uses multiple words to make a simple sentence, is trying out new sounds, and even now calls V and Hennessy by name. *Quick side note- Hennessy- aka Henny- our Bergamasco Sheepdog joined our family last October and we could not be more in love with this sweet pup. Here is a picture of our floof*

Thank you for allowing me to provide you with our “pup-date”. Now back to our regularly scheduled programming….

Blaise has also been making gains in his stability! He recently received new AFOs and those have given him a little extra boost! For anyone unfamiliar- AFOs are braces that go up to just under his knee. Most notably he bends at his knees a lot more versus bending at his waist to pick things up. He also is working on standing and walking accuracy as well.

After receiving his schedule for NAPA Center- I learned that these sessions definitely live up to their name…because this schedule is “intense”. Blaise will receive 4 hours of therapy a day, Monday through Friday. They will use a strategy called DMI or Dynamic Movement Intervention (more on that here https://napacenter.org/?s=DMI) that he will have one hour a day, one hour of speech per day, and also two hours in the Neurosuit (https://napacenter.org/?s=neurosuit). To put it into perspective, currently Blaise receives 4 hours of therapy- PER WEEK. So he will be doing a week of work in one day- yikes!

I wanted to keep this post short and sweet and to let my Pinehurst people know where I am in the event you think I fell off of the face of the earth when you do not see me for awhile. But more importantly- Blaise and I have but I have a few requests from all of you readers out there! Here are our requests: 1. Please pray for Blaise’s strength, focus, and patience over the next three weeks (and maybe this mama’s too :)). This will be a lot of work for him, and I really pray he can get the most out of each of these sessions and not get too tired. 2. Pray for Blaise’s health over the next three weeks- we need him happy and healthy over these next three weeks so we have no missed sessions. 3. Pray for all of the other children, families, and therapists who will be at NAPA Center this week, and every week. That they also find patience, strength, health, and progress during their time at the center. I hope everyone experiences some kind of miracle and sees their child do something they were once told to never expect.

So now we head to Boston, and let’s cross our fingers that we see some big moves by our smiley, curly haired, sweet, Blaise!

Posted on

Started From the Bottom, Now We’re Here…Full Dose!

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 🙂

Posted on

One Month of TrailBlaising Down…

Waiting in the chair for morning EKG and labs. Blaise is becoming quite the avid reader!

As we reach the one month mark of Blaise’s trial, I have certainly learned a lot more about what to expect with being part of a drug trial. I thought I had an idea of what it would be like, but then it actually starts and I’ve learned so much that I hadn’t even considered before! My hope with these blog posts is to not only update everyone on Blaise’s progress with AT-007 (which is VERY important, don’t get me wrong) but also to explain some of my perspective as the parent of a child in a trial. I assume some people reading this blog will be in my shoes someday, if they are not already, and I think it is important to understand it is not all rainbows and butterflies. There are highs and lows, just like any other chapter in life. However, Carl and I believe this is the best thing we can do for Blaise at this point in time, so here is our experience!

So far in the trial, Blaise tolerated the 1 mg/kg dose very well. With the initial dose, (and every subsequent dose escalation, and a safety check 14-21 days after any dose escalation…), we spent a pretty long day at the hospital for blood draws to check pharmacokinetic levels. Some of you might be wondering….”Kara, what the heck are pharmacokinetic levels?!”. This simply means Blaise gets lab draws 4, 8, 12, and 24 hours after a dose is given so we can see what the drug levels in his body are, and see what his exposure to the drug is. On these “long” days, an IV is placed to result in less pokes throughout the day. Blaise is a pretty little guy, but man, he turns into the HULK when trying to draw blood. I am assuming other rare disease parents can relate! I have noticed during this trial so far that Blaise doesn’t mind the needle poke so much as he gets upset about being restrained during the process. I have quite the body contortion routine going on to try and keep him still. I will say there has been one time so far where my mama heart hurt watching him be so sad during a lab draw, and I questioned if this was the right thing. However, Blaise always recovers so quickly and is smiling as soon as you let him go. And I feel like I have to think about the long game, and the potential impact this can have not only on his life, but the lives of others. So we keep calm and carry on!

Back to the good news…Blaise’s labs looked good to dose escalate so we received the green light to move to 5 mg/kg!! Wahoo!!! Now we insert our first “TRUE LIFE: I’m In a Clinical Trial” episode. Blaise started school for the very first time the Monday after he started the trial. Good news is he absolutely LOVES school and went right to his teacher the first day and waved “bye” to me. Unfortunately, as you might expect when entering the petrie dish that is 10+ two year olds playing together, he brought home some kiddie crud. The night before we were supposed to go up to UNC for his dose escalation/increase, he had a fever and was pretty lethargic. *SIGH*. However, as Dr. Jalazo says- “Blaise is a kid, not a robot” and was so kind and understanding. Not only did she check in with us on how he was feeling, but luckily, she was able to reschedule our long dose escalation visit for the following week, so we were still on track!

I need to take a moment for a shout out….I cannot thank Dr. Elizabeth Jalazo enough. She is Blaise’s geneticist at UNC. I call her Superwoman very often (I am running out of Superwoman gifs), and she really is. She has a very unique background in that she did a genetics fellowship because she is a rare disease mama herself, and wanted to become a geneticist to make things better for rare patients. And boy is she! She lives both sides of this life, as the doctor and as a clinical trial mama. Her perspective cannot be beat and she is such a fighter for her patients. She has been such an advocate for Blaise over these past months and I am so blessed she is in our lives!

Okay- back to the trial. Blaise has been on 5 mg/kg dose for over a week now, and all of his follow up labs indicate that the drug at this higher dose still appears to be safe, which is the most important thing! Now we are halfway to what is believed to be the full dose of 10 mg/kg, which hopefully we will be able to increase to within the next month! More to come on that!

Can’t beat those curls and a smile to end this post!
Posted on

They See Me Rollin’

Hey there! Can’t wait for you to check out my progress!

It has been a little bit since we had an update on Blaise’s progress (see Grind, Climb, & Landing post for the last “progress note”). He has been working very hard in physical, occupational, and speech therapies. We have gone through several grinds to get to today, but here we are!!

For reference, Blaise is 2.5 years old now. He crawls on all fours as his primary mode of transportation and does not army crawl any more (it took some time to make this full transition). He is also much better with his balance and can catch himself or ease his fall rather than just totally face planting every time if he gets off balance. To date he has split his chin open three times in two places- but it could be more!! He also started to carry things with him when he crawls!

As of mid July, he has a gait trainer. We have been working on his walking independence. He isn’t the best at steering, but at least he isn’t crying the majority of the time when he is in it and seems to enjoy walking and saying hello to people who walk by. We have been to some creative places to get some walking in (Lowe’s Hardware, the grocery store, the splash pad, etc.) but Blaise seems to do his best with a change of scenery! Here is a little insight to his walking!

He can pull to stand, but cannot stand without assistance or something to lean on. We hope getting his legs stronger with walking in the gait trainer will help him work toward standing independently.

As far as speech goes, Blaise’s expressive language is not very strong. For example, Blaise cannot speak in sentences. If he does speak it is one word that is not pronounced very well and you would probably have to understand the context in which he was saying something to be able to understand him. You will probably understand that when watching the videos below. You know what he is saying because Carl or I is translating for you. Here are a few videos of some of his words (don’t mind V’s crying in the background in some of these videos. He was having a hard time not answering all the questions for Blaise instead of letting him respond, so V had to go to his room for a bit…lol):

Blaise says Mo, EEEEE, and signs “all done”
“Ma, Na, Da, and BOO!”

Blaise’s receptive language is much stronger than his expressive language. He can answer yes or no questions pretty well. This means when we whines or points at something, we usually have to play 20 questions to figure out what he needs, but once we guess the right think he will say “YEAH”. That has been very helpful. Here is some more demonstration of his receptive language:

His intense concentration and occasional misses with high fives and knuckles (knucks :)) leads us to hand/eye coordination and fine motor skills! Blaise still cannot feed himself using utensils, and quite honestly, needs fed for most meals. I do not know if the reason he doesn’t feed himself a full meal is because he is tired, lazy, or bored. But whatever the reason, he still requires significant help when eating to ensure he gets enough nutrition. Here is an attempt at using a fork:

While utensil use leaves a lot to be desired, other aspects of Blaise’s fine motor is doing really well. He is much better at stacking than he used to be!!

Last but not least, here are two videos “for fun” (they are a little longer so I won’t be offended if you skip these!!) showing Blaise get up on the couch and also crawling up the stairs. He isn’t the most steady, but really big improvements from where we have been! While we are so happy he is more mobile, I cannot say I am particularly pleased that he can climb up all of these places to potentially face plant. Yay for heightened mom watch…lol. But all joking aside, we are thrilled with his progress! He is doing things we were not sure if he would ever do. All of these videos were taken the weekend before his clinical trial started, so we hope to see some big moves once we get to a sustained full dose!

Thanks for checking in on Blaise’s progress, more to come!!

Proudly powered by WordPress