Year: 2024

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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!)

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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…

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