It’s been a busy year since our last update. As Rowan approaches two years old, here’s the latest in his SLC13A5 Epilepsy journey.
Seizures
Rowan’s seizures have been all over the place for the past year, anywhere from one or two a month to a dozen in a single day. If they stay under ~2 minutes—and the large majority do—we just ride them out until he comes out of them. After that we’ll try administering a couple doses of rescue meds, and if he’s still in seizure at about 8 minutes, we’ll call emergency services. The hospital team in Fergus has grown very familiar with our family. Occasionally one of these longer seizures will necessitate a visit overnight at the hospital but luckily we’re usually being shuttled to Guelph for these stays rather than Hamilton, which makes the logistics of going back and forth between home and the hospital much easier.
Spread out over the last 23 months we’ll average about one of these 911 calls per month, though that suggests a kind of consistency that doesn’t hold at all when you actually start to track these more severe seizures. Still, we’re starting to get a better idea of certain triggers and patterns: as with our update last year, Rowan’s seizures continue to almost always occur between 5pm and 9pm. Often they seem to be triggered by overexcitement or being physically overstimulated, such as being tickled or being given a whole floor! to flail and roll around on. It doesn’t happen most times he’s put in those scenarios, and it’s too general of a trigger to try and really prevent it, but we keep an extra eye in those situations. Visual or auditory stimulation don’t seem to trigger anything, and are in fact some of his favourite things (see below).
Since February 2022, Rowan’s been taking five anti-seizure medications twice per day orally. We had a couple of false starts at weaning one of them that led to an uptick in seizures, so that’s on hold for now. There’s a medication called valproic acid that has been very successful in the SLC13A5 community. When Rowan turns two next month we’ll start him on that one, ramping it up as we try to ramp down another medication and hopefully get even more control over the seizure aspect of his disorder.
Physiotherapy
Rowan is continues to receive regular physiotherapy, at a clinic in Waterloo and through KidsAbility in Fergus. The last two or three months he’s been showing off what he’s learning to anyone and everyone who will watch. If you leave him alone for a second and peek back, chances are he’ll have flipped himself up onto his side or his tummy and be craning his neck to see if you’ve noticed his new trick. It’s amazing to watch his resourcefulness in moving his body. There’s lots of muscle groups that he can’t quite coordinate yet, but he’s a master at finding alternative ways to get what he wants. “If I shift my weight like this, and then lift my head like this it will tilt me to the side, and then I need to kind of… extend this leg… so that I won’t go back the same way when I… curl myself up like this, and then I just… stretch back out, and voila! Full roll!” It’s incredibly inspiring for me, honestly.
KidsAbility has set Rowan up with a stander so that he can properly align his legs and hips. He uses it about 15 minutes a day right now, and we’ll work our way up to an hour. He’s pretty apathetic about the whole thing… it’s not his favourite thing, but then he’s not one to complain even at the worst of times.
Feeding
Last July, Rowan had surgery to insert a G-tube, which is how he now receives all of his food and medication. As mentioned in a previous update, his low tone impacts the muscle systems involved with swallowing, which was leading to oral food getting into his upper airway and could cause respiratory issues. For the first four months with the tube we had to keep Rowan on prepackaged formula, which he was really not a fan of. He would vomit anywhere from 1-3 times a day, which was very uncomfortable for him and a nightmare for his parents in terms of trying to make any plans, not to mention from a laundry perspective. In late 2022 we talked his nutrition team into letting us try to blend our own food at home, and immediately the vomiting decreased drastically. We’ve had even better luck in the two months by removing gluten and dairy from his diet and, at the risk of jinxing it, the daily vomiting is hopefully a thing of the past. He will also be receiving some food allergy testing soon to hopefully help us confirm if he has an intolerance/allergy.
As things start to improve, we’re hopeful we can start working with the McMaster feeding and swallowing team to improve his swallowing muscles so that he’ll be able to enjoy food orally as he gets older.
Respiration
A sleep study for Rowan at SickKids last July showed that Rowan was dealing with severe sleep apnea, having apneic episodes upwards of 20 times per hour. At the time he had enlarged adenoids, as well as an NG-tube device which partially blocked one nostril. Not really a fair fight for this kid, when it comes to getting oxygen during sleep. Last September he went in for surgery to remove his adenoids and tonsils to try to help his apnea, and we saw some improvement but only for a couple of weeks. In February an ENT examination discovered that his adenoids had grown back to about 70% of their original size, which is also the exact moment that Amber and I learned that it’s possible for adenoids to grow back post-surgery.
Two weeks ago we returned to SickKids for another sleep study. With smaller adenoids and no NG tube we were optimistic that his sleep apnea may have improved a bit. Sadly that was not the case. Rowan’s apneic episodes were now up to 33 times an hour, much more concerning. So we’re on an urgent waiting list to go back to McMaster have the adenoids removed again. Hopefully they get the message this time.
TESS Research Foundation
One final update that’s Rowan’s health adjacent. If you’ve read these updates, followed Amber’s social media (or my social media, such as it is) or chatted with us in person the last 18 months, you’ll know we’ve been enthusiastically appreciative of the work done by the TESS Research Foundation in creating a community of SLC13A5 families and in supporting research into new treatments and cures for the disorder. Both Amber and I have been actively volunteering with the organization for about the last year, and Amber actually joined their Board of Directors as Vice Chair last September. As of today, May 1, she is stepping back from that role… in order to join their team full-time as the new TESS Research Foundation Operations Manager. Working from our home in Fergus, she’ll be helping to run communications and fundraising campaigns, providing administrative support, maintaining and improving the TESS Foundation’s online presence, and generally getting shit done for this worthwhile cause. I’m incredibly proud of her and excited for the work that she’s going to be able to do not just for Rowan, but for all families impacted by this disorder. We’re thrilled to get to meet the whole TESS team when the three of us head to the San Francisco Bay Area later this week to attend the second annual TESS Derby Day Fundraiser (a trip planned before this new role was even finalized).
To learn more about the TESS Research Foundation and the work they’re doing for kids like Rowan and families like ours, visit tessresearch.org
Lightning Round
- Also through KidsAbility we now have use of communication board. Rowan can use it to request that we sing a song, blow bubbles, and other fun activities
- Rowan’s vision improved, and with the change in prescription came some new red glasses to replace the blue ones we had previously
- We’ve been expanding Rowan’s care team and training more people on how to take care of him, administer meds, notice seizure activity, etc.
