A little backstory: Damian's liver and spleen are about 10x the normal size due to his disease (ASMD) and have been squishing Damian's stomach, which makes it impossible for him to eat as much as he should. Damian's GI doctor (Gastroenterologist, basically a liver/spleen/digestive system doctor) classifies Damian as malnourished and has been wanting Damian to get a feeding tube for nearly a year. We actually had the surgery scheduled for the beginning of last July, but we ended up canceling it because we were planning to start Enzyme Replacement Therapy in August and the doctor and I were hoping that ERT would shrink Damian's liver and spleen enough to fix the squished stomach problem and allow Damian to gain weight more and more over time.
I won't rehash the drama that ensued in August, but long story short, we didn't start ERT until Christmas. It's now been 3 months since we began ERT (can you believe it??) and while we haven't even given Damian a "full dose" yet (he has to start out in little miniature-sized doses to get his body used to the drug), I really feel like I'm already starting to see some improvements! I just scheduled an ultrasound this week for the beginning of April, so we'll know for sure in a couple weeks if my suspicion is correct that his liver is already starting to relax and shrink!
Damian's GI doctor and I had agreed back in December that we really couldn't wait any more. We agreed to proceed with the steps of getting a feeding tube, in the event that ERT doesn't miraculously shrink his liver and spleen quickly enough by the time a surgery can be scheduled. The doctor wanted Damian to get a feeding evaluation and another swallow study done just to get another specialist's opinion. We had those, finally, this week. Don't ask me why it takes MONTHS for these things to get scheduled - I'd usually Mama-Bear-my-way into getting seen sooner but... I think I just wanted to give ERT a chance to make a difference before doing another surgery (Damian's first was the IV port placement).
Damian's Feeding Evaluation
For the feeding evaluation, we went to the Children's Hospital's therapy clinic into a little room with two occupational therapists and they asked me a bunch of questions about Damian's diet and what I notice or think is an issue with Damian's feeding behavior. They then watched as I fed Damian a variety of the foods he eats every day: oatmeal, yogurt, and little bits of a peanut butter & jelly sandwich. They also watched him as he drank from his bottle.
Side note: Everywhere I go I get comments about Damian's bottle, which was actually recommended by another occupational therapist we'd seen in the past. I can't recommend it enough and have linked it here - it's basically a bottle with a flexible straw that allows babies/toddlers to drink with their head in a normal, chin-down position rather than head back. And because Damian doesn't have to waste energy holding a bottle up, he has the stamina to drink a LOT more. When we first got this bottle, he immediately started drinking FOUR TIMES his normal amount at each feeding. Just wanted to mention this in case anyone could use this!
Damian did so good (emotionally) at the evaluation! When he realized he was going to be fed instead of poked or prodded at this hospital appointment, he was happy as a clam and wasted no time before batting his eyelashes and flirting with the two therapists smiling back at him.
I knew one thing in particular would concern the therapists. It's honestly concerned me a little too since this has only just started happening consistently within the last month or so: Damian has lately been struggling getting everything all the way down his throat and every time he eats or drinks now, there is a lingering gurgling sound, as if he just needs to cough or clear his throat. I've tried to cough or go "ah-HEM" in front of Damian, but he won't copy me. The gurgle stays until Damian eventually dry swallows on his own.
The therapists knew we were there as part of an ongoing discussion about Damian getting a feeding tube and the therapists asked how I felt about getting one. I told them honestly that I am a little intimidated by the maintenance that it requires, and I certainly don't want Damian to undergo a surgery if we could do without one while Damian's liver and spleen shrink and "fix the underlying problem." But of course, I told them, if it was going to really help Damian get the nutrition that he needs in the meantime or if we were to find out that eating normally wasn't safe for Damian, then I am 100% all for it as soon as possible.
Throughout the evaluation, the therapists expressed concern about the gurgling sound. It seemed obvious to them that that sound meant there was food going down the wrong way, potentially into his lungs. They said they would really learn a lot from a swallow study, which we did a couple hours later.
Damian's Swallow Study
Damian has done two swallow studies before, so we were pro's this go-around. Despite the unfortunate circumstances that required us to do this, I actually find this study fascinating - and it's so useful. It reminds me of an episode of The Magic School Bus where Ms. Frizzle's class has access to this magic X-ray-like machine and they can see in real-time what Ralphie's bones and muscles are doing as he moved.
This study was basically the same idea: Damian sat in a chair while an X-Ray machine was directed at his mouth and throat. A technician/therapist would turn on the machine (and therefore, the radiation) for a few seconds at a time while I fed Damian an assortment of foods and his bottle, just like I did during the feeding evaluation, and we could see exactly what was happening on a video screen right next to us. Normally, food and drink wouldn't show up in an X-Ray, but we coated it all or mixed it with Barium, which does show up really well. Luckily Damian doesn't mind the taste at all (I tried a little bit, and the kind they had had a bit of a bubblegum flavor) and he was super cooperative the entire time. Someone Damian's age is only allowed 3 minutes of exposure to radiation, so we had to go pretty quick. The therapist directing the study stood next to me and pointed out different things she was noticing on the video screen.
I wasn't able to get photos of the screen during the test (I was a little pre-occupied), but here's a simplified illustration of what the normal swallow process is and what the therapist and I were seeing on the screen when Damian swallowed:
When you swallow (#2), your epiglottis (a little flap in your throat) bends down instantly and covers the tube that leads to your lungs, which forces the food/drink to go down to the stomach. The therapist pointed out that unless you are in the act of swallowing, the epiglottis stays pointed up, leaving your airways open.
When Damian was eating, his food began seeping down into his throat even before he finally swallowed (#1). When he did swallow, the rest of the food shot down like normal - well, most of it. The little bit that you see remaining at the top of his throat in #3 is what seems to be causing the gurgling sound. When he breathes in and out , air brushes by the food/drink remnants and causes it to make that gurgle.
After our 3 minutes were up, Damian and I went into a waiting room while the therapist running the study played the recorded X-ray video again with the therapists that Damian and I had done the feeding evaluation with earlier. After about 10 minutes, they all brought us out into the hallway to talk.
The good news out of this study was that they didn't see any food go down into his airway towards his lungs (aka "aspirations," which could very quickly make him sick and lead to pneumonia). However, the muscles that are required to swallow safely are obviously incredibly weak. Food shouldn't just be sliding down his throat like that before swallowing. It would be all too easy for it to go down the wrong way. The therapists noted that it got worse as time went on and confirmed that the way I usually feed him is correct: I feed him the tough stuff first (whatever requires the most energy) and then finish with a bottle (which is less work). They also suggested that after every bite, I should put a clean spoon in his mouth to encourage him to swallow again before giving him more food.
They told me that once I hear that gurgling sound though, I should stop feeding him because it's a clue that his muscles are too tired.
"But he usually makes that gurgling sound right from the beginning, even after just one bite or sip..." I said.
"Well then you really need to get a feeding tube," they said, "and only feed him 'for fun' when he's really got a lot of energy. You're really running the risk of him getting sick when he's eating while tired."
And that was that.
As of that day, the therapists we saw are in the process of getting Damian in their regular therapy schedule - they are recommending feeding therapy once a week at their clinic and have categorized him as a "high risk" priority patient so he can get put at the top of their waiting list. Hopefully we'll be able to start the therapies soon.
In the meantime, they said they would take the rest of the week to really study the swallow study video again, frame by frame, and send an in-depth report to Damian's GI doctor, who will then have a conversation with the surgeon about the best type of feeding tube for Damian and how soon a surgery can be scheduled.
The conversation after the swallow study did not go at all how I wanted it to go.
I recognized the gurgling was a bit of a new thing, but I was expecting to need a feeding tube because Damian's stomach was too squished, not because he wasn't swallowing safely. It was humbling proof that while we are seeing unprecedented progress as a result of the Brain 1.0 drug and Damian is astronomically better off now than he would have been without it... there are clearly some muscles in Damian's body that are still growing weaker. We need that stronger brain treatment.
But I'm also really hopeful that as the ERT treatment continues, we'll see a lot of really monumental benefits. Muscles need food and exercise to grow, and as we un-squish his stomach (and his lungs!) I'm sure we'll be far better-abled to do what we need to do to get stronger. Damian's liver enzymes are still looking really improved with every ERT infusion (he had dose #7 this week!) and his tummy is honestly just starting to look normal! I'm really looking forward to the ultrasound in April and see what kind of progress we're making!
Thank you all so much for your prayers and well wishes and for staying tuned! I'll keep you updated as we go through all of this!
Please note that I am not a doctor or a medically-trained professional. If I make any errors it is an honest mistake and I will correct the post as soon as I am made aware of it.