2024 Catch Up

When I started this blog I had the best of intentions to catch up to real time quickly and then write posts on a weekly basis to keep things up to date. That was optimistic. My goal for this post is to do a quick catch up - where we are with diagnoses and prognosis for Beckett. There will be other posts to fill in the gaps on more specific details and also how things are going on a more mental health/emotional side of things. But, there will be smattering of that in this post too, because the lines blur as I start typing.

Here we are, March 2024. Beckett has previously been diagnosed with Currarino’s Syndrome (CS), and Cerebral Palsy (CP). Also previously unmentioned, he has GERD, which isn’t super uncommon in babies. 

When we were told about Beckett’s genetic test results of CS, the geneticist ordered tests for both Keith and me to determine which side of the family it was passed down from. There was some indication that Keith might have it, since an old x-ray on file at the ACH showed that he has a deformed sacrum - having no functional impact on Keith, but a sign of CS. The test would determine if other extended family members should get tested to see if they could potentially pass down the mutation to future children. We received our results in January, and despite our suspicions, neither Keith nor I have the mutation that causes CS. Beckett appears to have a spontaneous mutation, which is not unheard of, but definitely not considered common. CS is not well studied so the frequency of occurrence is not known, though my quick Google search says it may be somewhere around 1 in 100,000. 

In January we also went for a nephrology appointment to see how Beckett’s kidneys were (oh yeah, those things! - I haven’t mentioned them in a while). Last time we saw nephrology was in August, and Beckett still had mild hydronephrosis of his right kidney and ureter - nothing overly concerning, but something warranting follow ups. He had another ultrasound in November and the January appointment was to review the results. There appeared to be very mild hydronephrosis remaining, and something called “extra renal pelvis” on his right kidney (feel free to Google - basically it’s a variation of normal)… the main thing that we were told was that his kidneys looked to be very healthy. Yay! We have another ultrasound booked for July, and if everything looks the same or better, it sounds like we can cross “nephrology” off the list of specialists that Beckett sees. As nice as his nephrologist is, I’d be happy to say goodbye to her. 

In February Beckett went to the Neuromotor clinic at the ACH. There he saw a physiotherapist and a Developmental Pediatrician. They were very kind professionals who listened to us and observed Beckett thoughtfully. The Pediatrician offered a prognosis for Beckett based on what we had told him, and what he observed. Based on Beckett’s gross and fine motor skills, he is likely to be considered a level 3 or 4 on the Gross Motor Function Classification System (GMFCS). I won’t go into the details of what each level means, but basically it means that the doc considers it unlikely that Beckett will walk independently. This was a hard pill to swallow for me. I wasn’t expecting level 4 to be on the cards - in fact I still personally feel like level 3 is worst case for Beckett based on what I see every day, but I am not the expert, and maybe I'm just in denial. Time will tell, and the best thing we can do is continue to bring Beckett to physio regularly, and celebrate the progress that we see. 

With this prognosis, Keith and I have decided that it will be best for Beckett’s physical and emotional well being to move out of our three story townhouse and find a bungalow somewhere in the city. Ultimately this will be better for all of us, as I think there would be a heavy toll on us if we always had to carry Beckett up and down all the many flights of stairs in our house. We want him to be able to get around his house in whatever way he is able (rolling, scooting, or walking), with the minimum amount of challenges and barriers possible. So, in the next few months we will be getting our place ready to sell, and moving. We love where we live, but we’re excited about the idea of having a house with a yard and easier accessibility for Beckett.

Beckett has continued to eat puréed and mushy foods well. He has continued to struggle with any textures or solids, and he gags and sometimes throws up when they reach the back of his mouth. We’ve been referred to the Early Childhood Rehabilitation through AHS to get the feeding support of an Occupational Therapist, and are hoping to get more recommendations on how to improve his feeding skills.

Some fantastic news is that Beckett is now super interactive, smiling at his familiar faces, giggling at seemingly nothing, and watching Albus the dog like he’s the most amazingly confusing creature. I can’t get enough of his smiles and giggles. In the last few weeks he’s become interested in toys, reaching and grabbing (more like slapping) them. It’s been very uplifting progress. While he is still behind on his gross motor skills - not able to sit independently, and not weight bearing on his arms - it’s promising to see him start to do things that he previously wasn’t doing “on time”. We’re all on Beckett time here, and progress of any kind is what counts (easy to say, sometimes hard for me to remember). In our house, we celebrate the "inch stones" - hitting a new milestone is great, but the smaller steps to get there are also worth celebrating. 

My next post will be about Little Bee in physio. He's been going to physio since the end of October and just completed his first week-long intensive session at the end of February. I'm excited to write about it and let you all know how he did!