It's been a while since I wrote very specifically about Damian's health. Exactly this time last year, we were in the hospital so Damian could have a surgery done to place a G-Tube port in his stomach (watch that vlog here).
It's been a rollercoaster since then. The month following the G-tube surgery I saw Damian's mental state plummet, then recover quickly after I switched him to a strictly vegan and low-to-no oils or fats diet (more on that here).
We then had a lot of back-to-back fundraisers that were incredibly successful and fun - but haven't left me much time to tell you how Damian has been doing at home. So let me catch you up.
The start of Damian's new symptoms
Around September 2023, I started noticing some things happening again that had really worried me when they were happening back in April. Damian's eyes would roll upwards every so often (when he was tired) and he would sometimes suddenly tense up his whole body and look really concerned when I laid him on his back. I mentioned at the end of my going vegan post that Damian seemed to still be regressing, but just more slowly. Well, by September all those neurological symptoms I'd seen before were slowly coming back more and more frequently.
Photos from September 2023
I called the neurology clinic at Children's Hospital because I was concerned he may be developing seizures. They said that a pretty telling way to check if someone is having a seizure is to tap them on the forehead between the eyes or on their nose. If they "snap out of it" right away, they weren't seizing. If their eyes remain fixed and a sharp tap doesn't get any reaction, they might be seizing.
We got an appointment to come in to the hospital's epilepsy center and I showed them a video I captured of Damian's eye rolling. I learned that that behavior was called "up-gazing" and rather than it being a seizure, it was just Damian's eyes being tired and taking a break. When any healthy person falls asleep, their eyes do the same thing (under their eyelids). But with Damian's low muscle tone, his eyes get tired quickly, just like all the other muscles in his body, and they're simply weak enough now that his eyes will roll up when he's too tired to focus them.
Ok, I thought, that was a bit of a relief.
Damian's Sleep Study
Still, there were other things I was concerned about. When Damian slept, he seemed to take really slow breaths and even long breaks in between breaths at times. Damian's pulmonologist (lung doctor) got us an appointment for a sleep study the week of Thanksgiving so they could make sure Damian was getting enough oxygen while he slept. Along with the sensors around his mouth and nose to detect carbon dioxide and monitors on his chest to detect breathing patterns, they also put a bunch of electrodes on his head. If any seizure activity were to occur, the electrodes would pick it up (the electrode monitoring is called an EEG, short for electroencephalogram).
We didn't get the results of that sleep study until the beginning of this year, and the pulmonologist said the results were nothing to worry about. Yes, his breathing was very slow and shallow, but he was exhaling an appropriate amount of carbon dioxide, so that meant he was getting enough oxygen. As for the EEG, it didn't pick up any seizures. The only thing marked as unusual was Damian just seemed to be restless throughout the night. They said it seemed like he had restless leg syndrome.
For someone who cannot stand and move about throughout the day, it made sense to me. Damian does seem to sleep more soundly at night if we put him in his standing frame for awhile right beforehand so he can push some weight through his legs. Otherwise he does kick a lot in bed.
Damian's seizures started
I actually don't know when Damian had his first seizure. Of course, there was the febrile seizure he had just before he was diagnosed with ASMD in 2021, but a febrile seizure is one that is simply triggered by an extremely high temperature (he had a viral infection at the time) and is any body's normal protective response in that situation. What he has recently started developing is different.
When Damian's up-gazing began becoming more frequent, I would regularly tap his forehead or blow on his face to get him to refocus his eyes or else fall asleep (I often say to him now "it's ok to take a nap, but you need to close your eyes first").
I think it was around December that I noticed that sometimes tapping on his forehead didn't do anything to snap him out of it. The up-gazing "episodes" started to last a little longer (like 5-10 seconds). It was also about that time that Damian seemed to start showing sensitivity to light (I am still not sure if it's related to seizures, but it started happening around the same time).
In January he started making odd noises before his eyes would start to roll up. It sounded almost like a slow laugh or maybe a loud and slightly-shrill exhale. At the same time, he'd also tighten up his arms and sometimes stiffly raise them a bit. He was typically wide-eyed while this was happening, but then after he'd stopped making the sound, his eyes would then start to slowly go up, and they would stay put for a bit. Finally, his whole body would relax and he'd either behave normally afterwards or he'd seem really tired. The whole thing would last up to a minute.
If it wasn't a seizure, I didn't know what it was, but it clearly wasn't normal.
I was able to capture one of these "episodes" on video and send it to Damian's neurologist. She made an appointment for Damian to come in and do an EEG test for 40 minutes with the hope that he would have one of these episodes during that time. He was having about 3 a day, so I was skeptical he would conveniently have one within a scheduled window of time.
Damian's EEG
The EEG happened on February 13th and like I said, I scoffed at the assumption that we could capture one of these episodes during such a short timeframe. Even more silly -to me- was that they said Damian needed to be asleep for the last 10 minutes, as if I could get him to sleep on command (wouldn't that be nice!!).
Of course Damian did not have an episode during this test. Of course Damian did not sleep for the last 10 minutes (though I felt pretty accomplished that I was able to get him to sleep for about 2 minutes!). And of course Damian had an episode shortly after we left, during our drive home from the hospital!
Damian's Swallow Study
We were actually back the next day at Children's Hospital for a barium swallow study. This had been scheduled back in September so that we could check-in on Damian's eating skills. Since the time he got his G-Tube surgery, we were still trying to mostly feed Damian by mouth and use the feeding tube to supplement, but by September I was noticing Damian's stamina was just getting weaker and he wouldn't eat as much before I started hearing a gurgle in his throat (which is a sign that there is residual food not being fully swallowed and to stop feeding him).
Unlike the EEG, where results weren't officially available to me for about a week, the occupational therapist running the study was able to talk to me in real time as well as after the study with her analysis. She said it seemed like Damian's swallowing muscles showed a lack of coordination. Instead of swallowing one time, he'd swallow most of the food in his mouth, but then have to swallow again the food he didn't get down the first time. The second swallow, however, was uncoordinated, and sometimes resulted in an aspiration (food going down towards the lungs instead of the stomach). We tried a variety of thicknesses of foods (from thick puree to water) and the consistency didn't make a difference. He aspirated on every type of food.
Because of this, the therapist said she had to recommend that the feeding tube be Damian's main, or only, source of nutrition from now on. If we had to feed him orally, he really needs to be "up for it."
Still, she reminded me that pneumonia (infection of the lungs) is most often caused by bacteria in the mouth seeping into the lungs via saliva or phlegm (especially if the person is sick), rather than being caused by food going down the wrong tube, so keeping Damian's mouth clean and being good about brushing his teeth will do a lot to keep him safe.
Damian's Brain MRI
Phew! If all of that wasn't enough, we were back at Children's Hospital a few days later for a brain MRI. Those who were watching my stories on Instagram that day may remember how anxious I was - and maybe knowing how busy our month already had been up to that point explains a lot of that.
Most of all, though, I just don't like Damian getting sedated. It may completely be inside my head or otherwise not be related to the anesthesia at all, but I've just felt like he never seems to fully get his energy back. By the way, in case you were curious why sedation is even necessary, MRI's are obviously not invasive, but they take about an hour and require the patient to lie completely still. Gratefully, Damian is not capable of staying still for that long, even if he's wrapped up tight.
I was really grateful for the anesthesiologist taking the time beforehand to listen to me and that she was willing to change her plan for sedation. Hearing about how naturally weak Damian already was, she opted to use less of a sedative and rely mostly on a separate chemical to keep him asleep. As a result, Damian's recovery time was the quickest I've ever seen!
The Results
So that brings us to the results, which I finally got at the end of February.
While Damian didn't have any of the episodes I saw at home during the EEG, it turned out that it didn't really matter. Damian did have a seizure during the test. He had one but it just didn't have much of an outward physical expression. The EEG also picked up a lot of abnormal brain activity in that quick 40 minutes.
As for the brain MRI, I had been really hoping we would get the same news we'd gotten from his previous brain MRI (which was that they couldn't see any changes from his first MRI). Unfortunately, they saw some changes this time.
Damian's brain overall has uniformly lost some volume. As it's designed to do in this situation, the fourth ventricle in the brain (which is basically tasked with cushioning the brain) has enlarged to fill the newly-emptied space. The technician described the amount of enlargement of this ventricle as being "mild to moderate."
Additionally, they saw that there was an increase of white matter lesions - which basically means that the neurons aren't being fully insulated (you can think of it like an old, worn-down water hose that is leaking water through holes that are opening up along the hose). A "leaky neuron" will not work properly and is responsible for declining mobility, cognitive function, mood, and of course everything else that the brain controls.
All of this, including the seizure activity (which ranges now at 3-10 seizures a day), is expected of a young child who has un-treated ASMD.
So... Now What?
As you can imagine, a lot of bad news dumped on me all at once doesn't feel great. I've been sitting on this news for a few weeks trying to figure out how best to share it. I'm kind of drawing a blank on another way to talk about this, so I'm just going to be honest:
This is really really hard.
Really hard.
The timing of our journey with where Science was at in 2021 was such that it seemed we were making steady, consistent progress. To chart it out...
2021
Received diagnosis
Started campaign
Raised a lot of funds
Fought hard against bureaucracies to access "Brain 1.0"
2022
Finally completed all the steps & started "Brain 1.0"
Began seeing progress with Damian's neurological health
Continued to raise funds
Fought hard to start enzyme replacement therapy (ERT/infusions)
Finally started ERT
2023
Began seeing benefits of ERT
Produced some of our biggest fundraisers yet
I guess it's because Damian hasn't been able to start an additional treatment since 2022, or because we're not fully funded yet, that I feel anxious to reach another milestone. In the meantime, although Damian is far better off than he would have been without these treatments he's on, and although his regression has really slowed down, he is still declining, so I'm not satisfied. And now to hear that there is physical proof that his brain has in fact started deteriorating... I have no words for how it feels to hear that.
If I am being honest, this month I've often felt scared, and a few times this month I have felt devastated. This is really really hard.
But.
For a long time I've been able to distinguish between my rational and irrational thoughts, thank goodness. Sometimes I let the irrational thoughts take control, even when I know they are irrational. My couple days of feeling debilitating devastation this month have been irrational.
The facts are these:
1 - Damian is still happy and calm, as always. He is not as expressive as he was a year ago, but he's not suffering. He has "off" days when it comes to his brain function, but he'll also sometimes surprise us with a burst of energy, coordination, and strength. Music seems to focus him and he still loves being read to. It's clear and obvious to me that he is intentionally fighting this disease and wants to be here. He gets excited to see me and Brock. Sometimes he tries to roll over onto his stomach. And nothing motivates him to reach out and touch something like a piano does. He is still very sensitive to my feelings and focuses hard on me when I'm sad - as if to say "Stay in the game, Mom. I'm still here and I'm still fighting and you're going to keep fighting with me."
2 - God does not allow us to go through times that we don't have the ability to get through. This experience is not going to destroy me if I don't let it.
3 - Our lives have purpose. I know there are many hard times that are not by divine design, but I have repeatedly felt God clearly tell me on the more devastating days to keep going. There is a light at the end of the tunnel and we have more work to get done. This isn't how it ends. Keep fighting.
4 - The treatment is in active development. Yes, it's taking longer to raise the money needed for these studies than I would like, and yes, that's making this process take longer than it would otherwise be taking. But we are making progress and others, not just Damian, are benefitting from it.
**Just to clarify, I don't feel shame for feeling sad or crying or anything like that on hard days. I'm not a regularly emotional person so it's often a relief to get those feelings out when they come. It just feels irritatingly unproductive to sit and dwell in sadness when I want to know at the end of the day that I have done and am doing absolutely everything I possibly can for my son.
This year has been a lot so far, and the increased frequency of hospital visits and tests has made the organizing of another crazy big fundraiser, which I was planning on doing this month, feel impossible. I think as we are entering this new chapter of Damian's care I need to adapt how we are fundraising a little bit so we're working smarter, not just harder. But we will keep working. Damian still clearly has a lot of fight in him. There's a reason for that.
We're not done yet.
<3
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