Not exactly how we envisioned Christmas panning out this weekend. But let's take it from the top:
We had our start date for Enzyme Replacement Therapy (ERT), the 2nd of the 3 treatments Damian needs to survive this disease. After all the drama, several months of angry mama bear calls and emails, and all the waiting over the weekends until I could start badgering people again on Monday - we FINALLY got a start date. Friday, December 23rd. Barely, just barely, we were able to start before Christmas! And in true Christmas miracle fashion, we actually did give Damian his first infusion successfully!
I have the whole day documented in our latest YouTube video!
Remind me... what is ERT supposed to do?
The "D" in ASMD (Damian's disease) stands for Deficiency - he is deficient in an enzyme called "Acid Sphingomyelinase" (ASM) that is supposed to break down a fatty substance that we ALL get produced in the cells of our liver, spleen, lungs, brain, etc.
Because he is deficient in the enzyme, Damian's cells are getting filled to the brim with that fatty substance and it is causing his liver and spleen to enlarge (they are currently more than 10x the size they should be) and it puts a lot of pressure on the other organs in his ribcage. That is why he throws up all the time; his stomach is constantly squished - and it's even worse when he's constipated, or if he's been upright for too long, or if he's sick or tired or otherwise extra weak.
ERT - Enzyme Replacement Therapy - is literally injecting that enzyme Damian is missing into his bloodstream.
Seems like a simple fix! By putting the missing enzyme into Damian's body, it's able to finally start breaking down the fatty substance that has built up so much.
However, when that fatty substance breaks up, it explodes into a few different chemicals and - in large quantities - they are extremely toxic. That is why we have to start off the drug very very small and work slowly towards Damian's ideal dose.
In the end, as the fatty substance breaks up at a safe rate, the liver and spleen will shrink, and enough patients from the clinical trial of this drug have shown that ERT can get the abdominal organs down to a normal size and working properly. ERT then solves the problem of ASMD (all but brain issues, which I explain here).
I'm hoping that as we continue these doses (he'll take a dose every two weeks for the rest of his life), we'll soon see benefits of his liver and spleen shrinking and working properly:
less (or NO) vomiting!!
ability to breathe deeply (his lungs are SO squished right now!)
ability to eat full-sized meals! (he is currently considered malnourished because his stomach can only hold tiny amounts at a time)
bigger growth spurts from proper nutrition
It's impossible to say for sure when Damian will really start benefitting from this, but the drug supposedly starts breaking down the fatty substance right away, so little by little things should be getting better and better.
I'm hoping the benefits will start to get slightly noticeable at about 3 months and by the time he's been doing ERT for a year, it should really be making a difference!
The Christmas Eve Scare
In a perfect world, Damian would have been in perfect health (besides the obvious) before starting any new drug. But unfortunately, Damian has been sick off and on for the past couple months. Our doctors and therapists have said they've seen increased numbers of sick kids this year, and it certainly seems to have taken its toll on Damian.
I actually wasn't sure if Damian was sick when we went in to do our infusion, because the only symptom he seemed to have was being tired. No fever. No congestion. He could have just been having a growth spurt.
But the night we came home from the infusion, Damian was throwing up more than usual, almost with projectile vomiting power, and was especially tired.
Now, that certainly could have been a side effect of the ERT drug. The reason we have to do blood draws before every infusion from here on out is to see how the drug is affecting Damian - if the drug is working too fast, there could be a serious toxicity issue like I said. If Damian's body is allergic to the drug, that could cause serious issues too. There are protocols to follow for every thing that could go wrong, and it was my responsibility to watch for issues at home.
Damian slept in our bed that night just in case - but just as he did all week, he slept very deeply and slept well into the morning.
I was almost done editing the YouTube video about our ERT infusion when I heard Damian wake up with a lot of hard coughing. Damian's coughing fits, for whatever reason, either lead to a cute little sneeze or a long series of vomiting, so I ran into the bedroom and sat him upright as he started to heave up... nothing. His poor tummy was completely empty and he looked absolutely awful. Like a shell of himself.
I cradled him on my lap and tried to feed him some baby food. He slowly ate 3 pea-sized squirts of the Zucchini-Spinach-Banana blend and fell asleep with his mouth gaping open and his eyes almost looking a little sunken in. He felt incredibly frail, like I was holding a skeleton. I then noticed he was starting to take really long pauses in-between breaths and I suddenly got really scared. I immediately called Brock, who was just driving home from working out and as soon as he walked in the door, we called our friend who happened to be an ER doctor at the hospital down the road. We did try to wake up Damian in the meantime once but as soon as he woke up he started heaving again and threw up the baby food I had just fed him, then instantly fell asleep again.
This kind of behavior isn't totally, completely out of the ordinary - when Damian is sick I am always on high alert for signs of dehydration, since he will often throw up absolutely everything he eats and become super weak. He didn't even have a fever this time. But he just felt so frail.
Our friend suggested we call Children's Hospital (since the hospital down the street would just re-transport us there anyway) and told us we'd likely need to take him to the ER, especially after we read off some of the results of his blood test from the day before. His liver enzymes were at an all-time high, and not just by a little bit. And this was Damian's blood before the ERT infusion began.
I called Children's Hospital and sure enough, they told us to bring him to the ER. While Brock and I took turns holding Damian and getting ready to go, Damian actually woke up and started trying to play with his hands, so we felt comfortable that the situation wasn't so dire that we couldn't make the drive to CHLA on our own.
Testing at the ER
At the ER, the doctors wanted to do their due diligence and collect as much information as they could to pass on to all the specialists that Damian regularly sees at CHLA. They had us do a CT scan of Damian's brain, an ultrasound of his abdomen, an X-ray of his chest, a blood test, and nasal swabs for a variety of viral infections. Damian slept through nearly all of the testing and eventually we had results: Damian had the flu.
We also found out Damian's liver enzymes had shot up even higher, his blood cell count (his platelets, white blood cells, and hemoglobin) were all really low, and to top it off, Damian's oxygen was dipping a little bit while we were there in the ER room and had to start receiving oxygen through a tube into his nostrils.
The ER doctor said there were enough questionable things happening that we needed to be officially admitted so Damian could be monitored and we could see whether all these numbers would get worse or get better over time.
And just like that, we were taken upstairs to an empty inpatient room and Damian and I spent the next few days at the hospital, getting blood drawn every morning, temperature and blood pressure taken every 4 hours, and monitors for oxygen, respiratory rate, and heart rate running nonstop. Additionally, Damian had a bag of saline constantly dripping into his IV port and every night he got a shot of Vitamin K (which was supposed to help encourage healthy blood levels).
Damian slept most of the time, but slowly starting to look more alert and like himself when he was awake. As we hoped, Damian's little body started to improve over time, and we were discharged just last night when we were all fairly confident that Damian could continue to recover from the flu at home, without the IV fluids to keep him hydrated. Damian's bilirubin levels were actually elevating every day that we were at the hospital (it was 2.9 mg/dL on the last day), but the CHLA liver doctors didn't think it was a reason to keep him in the hospital. When we draw Damian's blood again before his second dose of ERT, we'll see if that number comes back down.
Is Damian still potentially getting a feeding tube?
Yes, in fact I thought we were going to end up staying in the hospital for much longer so that Damian could get a feeding tube surgically placed (it's much quicker and easier to schedule surgeries immediately while you are an inpatient).
This is our 3rd time taking Damian to the ER within just a few months, and each time it was because he was sick with some viral infection, whether it was a cold, RSV, or the flu. Damian vomits absolutely everything when he is sick, and that is when he needs those nutrients the most. I can't help but think that if he'd gotten a feeding tube back in July when it was originally scheduled, we wouldn't have had to go to the ER any of these times.
We cancelled that feeding tube surgery because we were promised we would start ERT on August 1st, and if we had, we'd probably be just starting to see those benefits I talked about earlier by now and we could have even potentially not needed a feeding tube ever.
But, thanks to all the ERT drama, here we are. In the middle of flu season, with Damian's liver and spleen larger than ever, still trying to recover from the weight loss his being sick has caused. He has started ERT, but at this rate, I don't think his liver and spleen will shrink quick enough to warrant not going forward with a feeding tube.
I had brought it up multiple times while we were in the hospital, but when the doctors discussed it with the surgeons, they were told that performing a surgery on someone already in a weakened state and trying to get over a viral infection is just not safe. I can definitely appreciate that logic. So I'm sure we'll see over the next couple weeks what the general timing of the feeding tube surgery is going to be.
The Next ERT Infusion
It is pretty safe to say that all the issues that landed us in the hospital were caused by the flu. But because of the timing of it all, we can't be absolutely 100% sure that Damian's infusion didn't attribute to some of the problems.
So just to make sure we're being abundantly safe while we escalate his ERT doses, rather than have dose #2 be a larger dose, we're going to have it be the same amount as before. It's hard to believe that time is already just a week and a half away!
While this weekend certainly didn't go like I was hoping it would, I'm just glad Damian is ok. We got him the help he needed to fight the flu, he is in recovery, he is doing MUCH better today, and we have already secured our infusion schedule for ERT, so they can't take this treatment away from us now (unless Damian has a massive allergic reaction)! We're doing this!
Now all we need to do before the year is over is raise the rest of our first MILLION dollars (we're less than 1,400 donations away!!!) and... celebrate Christmas! Since we were in the hospital on Christmas Day and missed all the festivities, we decided to postpone our celebration until we got home and could fully enjoy all the traditions we love. So I've been listening to Christmas music the entire time writing this post to keep the holiday spirit alive. This may be the latest our family has ever celebrated Christmas (we haven't picked our day yet!) but I'm determined to make it our merriest yet!
MERRY CHRISTMAS, friends!
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