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…

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 🙂

The Noni Chronicles

Many of you might not know that we have had the distinct honor and pleasure of having Carl’s 96 year old grandmother, who we call Noni, had been living with us since Labor Day. She recently left to head back to Columbus, and it certainly is strange not having her here. Since this blog is also to chronicle family memories, I thought it would be a perfect opportunity to remember this precious time we were able to spend with her.

She really became part of our family unit- so much so that V always included Noni when talking about his family and always wanted her to come everywhere with us. I realize how blessed and lucky we are to have our children’s great grandma spend so much time with them. Noni is the most remarkable (and only) 96 year old I have had the pleasure of knowing. She is sharp as a tack, and remembers more dates and details than I can. She also LOVES V and Blaise, and played with them indoors and outdoors, played ball with them with her cane, read them books, and the list goes on. I shared some photos below of all of their frequent activities.

We loved going on walks with Noni. Often V would be zooming around on his balance bike while Noni held Blaise as we pushed her along in the wheelchair. In fact, one time we had a cousin dance party on our walk. Our neighbors might think we are crazy- but that is probably nothing new.

Blaise always got to ride with Noni on our walks and loved every minute of it!

Noni spent a lot of time with a child in her lap- either playing with toys, reading books, or refereeing whatever games were going on at the time.

We had the best time at the NC Zoo with Noni. Checking out all of the animals, the boys swapping rides with Noni in the wheelchair, and of course- staying socially distant (lol)!

Noni also was here for the duration of October- which turned out to be the month of birthdays! We celebrated my niece, Dottie’s, very first birthday, Noni’s 96th birthday, and V’s third birthday. More pictures below of all of the fun we had!

We cannot wait to see Noni again at Thanksgiving for some more fun and adventures!

Street Parking

Having a sweet home gym has been a dream of ours for as long as we can remember. Throughout the years we accumulated a fair bit of workout equipment, but always longed for the day that we could have a truly dedicated workout space. When we finally moved into our own house (no more apartments or rentals!), making our gym a reality was a top priority. Our garage was a prime candidate for creating such a space. As a visual, here’s what we were starting with.

Not being too keen on working out on a concrete floor, we installed some rubber floor mats before our garage became too cluttered. We had used various flooring options previously; foam tiles, stalls mats, etc. Those options didn’t sound like a good fit for our space, so we gravitated towards rubber rolls. They arrived on a pallet, and were surprisingly easy to install once you maneuvered the rolls into position.

Next came an update to the walls. The existing cinder block was a little more spartan than we wanted the space to feel. We’d seen some people do neat things with old rusted tin, so we found a local site selling their used tin cheap. A quick family road trip later, and we had another project.

The tin needed to be cut to size to fit the height of the cinder block, which was easier in theory than it was in practice, as the garage floor slopes down towards the drive requiring each piece from the back of the garage to the front to be cut at a different height and at a slight angle. We also didn’t want the rust from the tin coming off when our kids inevitably ran into them with their bikes or kicked them with a soccer ball, so we scrubbed down each piece and then sprayed a clear coat on each before installing them. The cinder block also stuck out a few inches from the wall, so we decided to install a wood ledge overtop to hide the cinder block, as well as cover any sharp edges from the cut tin.

The final update to our garage was to increase the height of our garage doors to take advantage of the 14-foot ceilings. This was one project we didn’t want to attempt ourselves, but we were very pleased with the outcome. Here’s a before and after.

The only thing missing now was the centerpiece of our gym: the power rack. After a fair amount of research, we settled on Sorinex for making the power rack of our dreams. They make incredible equipment, have some very creative attachments for their line of racks and rigs, and being located in Lexington, SC they are fairly local to us. I got connected with Shedrick, and hence began a several month-long process of exchanging ideas and checking quotes for various setups. We seriously exchanged dozens of emails and phone calls before we settled on the final build.

Then the toughest part… waiting for it to arrive. As it so happened, our family was quite busy between the time we placed the order for the Sorinex rack to the time it arrived. The day of arrival was still highly anticipated. As luck would have it, Kara happened to catch the attention of a worker from a nearby construction site, who kindly unloaded the pallets for us using his forklift. I have no idea how we would have done it otherwise. This thing was MASSIVE. It took hours just to unpack and unload it all.

The end product exceeded our expectations.

We really couldn’t be happier with how it turned out. Shedrick and the Sorinex team did an amazing job taking our vision and turning it into a reality. Every step of the way their commitment to their product and their customer service was top notch. There were a couple relatively minor discrepancies between what we had ordered and what arrived with the shipment, and without fail all issues were resolved quickly and without any hesitation, further reinforcing our decision to go with Sorinex. Our garage gym has quickly become a space for our entire family to enjoy each other’s company. While Mom and Dad work out, V and Blaise see what mischief they can get into, or try to emulate their parents. This is undoubtedly the start of many fond family memories… and hopefully some sweet gains to go with it. ðŸ˜‰

Celebrating America!

Well, it has been awhile since there was an update on the blog, whoops! We have been a bit side tracked since we FINALLY have the opportunity to see family again, enjoy pool time, and other fun summer activities, which has been a huge blessing after all of the time at home. I will be posting a big update on Blaise soon, as he has made some great progress since our last post (I know the anticipation is killing you :P) But now for a fun, picture filled update: most recently we went to the beach with family for the 4th of July holiday, and it was so much fun!

V and cousin Mikey building a sandcastle on the beach!
Blaise putting toys in the bucket (thanks PT/OT) and splashing in the water! Spoiler Alert: Blaise can sit up on his own!! Making huge progress!

We were able to have “socially distanced” (who is SO READY to stop using those words….lol) beach time every day and enjoy some time in the sun! After nap time, we had played in the pool on the deck or went on a walk to feed the ducks and turtles.

Discussing the “daddy turtle” that they saw
The littles holding hands on their walk…so precious

And of course, what is more precious than our sweet, smiley boy in Chief’s patriotic Pirates hat on the 4th of July 🙂

That’s all for now! Hope you all had an amazing July 4th holiday!

RECAP: CDG Awareness Day 2020

Well, I am always blown away by the support and love that we receive from all of our friends and family on a regular basis. But you all made Blaise’s first CDG Day so very special! Thank you for the texts, posts, and pictures on his day! It was so great to see everyone in their green!

Family from Pittsburgh and Atlanta representing in their green!
Blaise’s little friends from Richmond, Raleigh, and Columbus win the award for the cutest party animals!
Even mom’s “pharmily” from Gainesville joined in the celebration for CDG!
The Traetows looking so fly! And my goddaughter, Olivia, made certain that Archie was wearing green, too!

And of course we had to get pictures from all of Blaise’s grandparents, aunts, uncles, and cousins! V wasn’t too thrilled about our 15th try at a family photo with everyone looking!

Just because CDG Awareness Day has come and gone this year, that doesn’t mean that we aren’t still working toward making this formally recognized by the WHO! So….if you forgot to sign this petition the last time (or made a new friend who might want to sign), PLEASE do so now! http://chng.it/pwPt2gd9hd We are now on our way toward 10,000 signatures (and have ~700 left to go)!!! Thanks in advance for your support!

We were lucky enough to celebrate this day with our family at the beach! It was nice to get out of the house for the first time in awhile. We had a great time seeing the ocean, playing in the sand, riding bikes, feeding ducks, and spending time with cousins who we had not seen since February! In fact, V said it best when coming inside for bed that night. He had just gone on a bike ride with Nana, and as they walked inside he looked up and said “Nana, today was a good day.” And that it was.

Switching Gears….

So a driving force behind the creation of this blog was to bring awareness regarding what CDG is and our journey. This also has been a fantastic platform to share with friends and family what has been going on with Blaise without sending endless texts or making lots of phone calls! However, I do think it would be remiss if I did not share a little bit about Blaise’s big brother, V!

Since day one, V has been the best big brother to Blaise. He used to go up to Blaise in the swing and lay his head near Blaise or place his hand on his chest. When cousins or other young kids gather around Blaise, V is always the first one there pushing through the pack to check on his little “Blaisey Boo”.

When Blaise wakes up from a nap and V realizes it before I have a chance to get Blaise out, I usually walk into the room and find this….

All of the “brudder” snuggles

I could go on and on about the sweet things that V does for his “brudder”. But…before we get too hasty….let’s not paint this angelic picture of V happening 100% of the time. He still has his fair share of 2 year old moments. He can definitely be a stubborn little turd (no idea who that came from…whoops) but he is getting awfully smart, and talking constantly. He surprises me daily with some of his new tricks. Yesterday when I went to the fridge to give him more water he told me “No Mom, I have plenty.” Seriously? Plenty? Who is this kid?

He helped Carl and I last weekend with yardwork. Put on his hat (like Mama and Dada), grabbed a rake, and actually did a great job raking the pine needles into a pile! The finished product was taller than he was!

V being “SO STRONG” and showing off his muscles

Definitely the “coolest” most recent accomplishment from V was when I walked into the play room last week, and saw a 48 piece puzzle finished on the ground. Mind you, we had cleaned up that puzzle the day before and put it away. So he got this puzzle out, and completely, independently, assembled it! He even started putting toy animals on top of the matching animals on the puzzle (see below with the gorilla and rhino).

But the most remarkable part to me, is that V finished the puzzle, and went on to the next thing to play with. He didn’t draw attention to his accomplishment, he didn’t really view it as a big deal. I think that is a charming character trait of this sweet boy. However- you know I made a HUGE deal out of this! Here he is looking so proud with his puzzle:

Puzzle Box: Ages 4+
V: Hold my sippy cup

So there is a little update on our “V man”. One thing I know for certain is that Blaise hit the sibling jackpot when he got V as a big brother. Regardless of any diagnosis- one thing has not changed- I CANNOT WAIT to see the two of them grow up together. I am sure they will still get into plenty of trouble. Blaise seems to think V is hilarious, and V regularly uses Blaise’s giggles as permission to continue whatever ridiculous thing that he is doing. I guess boys will be boys!

Clearly V is planning mischief and Blaise is in full support!

The 4-1-1

So for those of you who have stumbled upon this blog by accident, I figure I should give you the 4-1-1 on my family!

I am Kara, mom to Carl “V” (he is the fifth) and Blaise. V is a typically developing kiddo, and Blaise has been diagnosed with CDG, which makes him a kid with different needs. I am wife to Carl (yes, the fourth) and we have known each other since high school- in fact- he was the first guy I ever dated, but we took a ~8 year hiatus before reconnecting after college!

I started this blog as a way to share our story with the world, and I hope that it might one day help someone who might be going through the struggles of a child with a new diagnosis, who might be navigating the CDG waters as well, who might just have a stubborn two year old who is driving them absolutely bonkers. But before we get too focused on my lofty goals, for now, this is a nice way to share our story with those who want to know, on their own time. If you have questions- please feel free to reach out anytime or just comment below 🙂