I CANNOT TELL YOU HOW EXCITED I AM!!!!! I COULD SCREAM!!!! IN FACT, I WILL!!!!
You all know how long we have been trying to get this treatment approved!! The FDA received the original application for this treatment in February and the standard response time for an emergency use application for patients with critical need is just a few DAYS.
For reasons I don't need to get into here, the FDA responded exactly a month later, and rather than sending us an approval, they put our case on a "full clinical hold," which in the regulatory world is DOOM.
I am so so so grateful for the immediate action taken by members of Damian's team to put together every bit of information the FDA claimed they needed to change their assessment. Even still, I had to make a handful of unorthodox phone calls myself so I could ensure that everyone involved knew that Damian was REAL and he was TRULY in need of URGENT and expedited attention.
And here is yet another experience in my life where I was reminded that "businesses" or "corporations" themselves are not alive, do not have feelings, and cannot think for themselves. But PEOPLE are, do, and can. So if the "system" isn't working - do whatever it takes to bypass the system and talk to people. Because people are good. If running this campaign has taught me anything, it's taught me that people are good.
That doesn't negate the excruciating frustration I've felt for the past couple months while we wondered what state Damian would be in by the time the drug was finally approved, but YESTERDAY, 171 days after we were first told we could have access to this drug ---------- it finally happened.
What happened next
When you have spent the last few months frantically trying to get potentially life-saving treatment for your baby, you do not waste a SECOND to schedule the first dose when it finally becomes available!!!
I called Damian's Medical Genetics doctor (who is sponsoring this "experimental study" and therefore responsible for it) at 8:00:00 AM right as he walked into the office. I began by asking if he'd checked his emails (he hadn't - he had just walked in!) and we hung up after agreeing that Friday would be the start date.
Why Friday? The initial protocol for the study said the preferred start date would be a Tuesday because a dose would be taken every 3 days and we didn't want a dose day to fall on a weekend until we all felt confident Damian could safely take it from home. But Friday would have been "Dose #2," so it's not that big of a deal to miss out on that 1 more time in the hospital before we do it on our own.
And guys.... TOMORROW IS FRIDAY!!!!!
BIG DAY TOMORROW! We are scheduled to go in to Children's Hospital first thing in the morning and will:
get an EKG (echocardiogram)
fill out paperwork
get the required blood taken (through Damian's new IV port that was put in back in February in anticipation for this study)
and then finally, FINALLY give Damian his first dose!!!
then Damian will be monitored for a little while to make sure he doesn't have any adverse reactions before we go home and PRAY IT WORKS!!!!
The drug is an oral medicine in a powder form that has been incapsulated into 3mg doses. The idea is that we'll break open a capsule, sprinkle the powder onto a spoonful of yogurt or something, and then feed it to Damian! Simple as that.
How/When Will We Know it Works?
The short answer is... we don't.
The last time this drug was tested on a little boy with ASMD, the dose amount was much much smaller. That study showed every sign that the drug was safe, which is a major relief, but since Damian is taking a much higher dose, we really just don't know what's going to happen or how soon we could see a difference (if at all).
The doctor will be monitoring a lot of different things during this study, which is why Damian got an IV port. There will be weekly blood draws to test a bunch of different things; Quarterly MRI's will be done to take pictures of his brain and liver to see if and how the buildup of Sphingomyelin (the uncontrolled substance responsible for this mess) is being affected by the drug; and more.
In the meantime, I will be taking notes (and of course lots of video!) from home and doing my own "studies". Here's what I'm hoping for as a result of starting this drug aimed at impacting the brain:
Increased muscle tone
Who knew the brain was in charge of your muscles? Not me. (I can already hear my body-building husband Brock saying "I knew" in my head). Damian's neurological regression is what is responsible for the weakening muscles, the loss of muscle control, and the worsening imbalance I've seen develop over the past 12 months. But the miraculous thing about muscles is that they can ALWAYS grow. Whatever age you are, you can build muscle. So even if this drug doesn't allow the brain to make a complete recovery, if it can just STOP the regression where it's at - I am confident we can make improvement here.
In January of 2021, I noticed Damian started tiring really easily. I always say THAT month was the start of his regression. All of his development began reversing at that point as he lost skill after skill. Damian tires out far more easily now, and he usually sleeps 8-10 hours every night and an additional 4-5 hours during the day. I'm hoping that in tandem with building muscle, we'll see his stamina increase as well.
Keep in mind though that this drug is NOT expected to affect his ever-growing liver which has really squished his lungs. If you've ever been 9 months pregnant and felt so tired in part because of how hard it was to breathe, that's Damian's situation. Still, I imagine that we'll see some improvement in Damian's overall stamina, and it should only get better when we are able to add another drug therapy to his schedule (Enzyme Replacement Therapy) which will shrink his liver down to normal size.
It is almost jarring to spend time babbling nonsense with Damian nowadays and then remember that Damian used to TALK only MONTHS ago. He called for "Daddy" when he knew he was home or would yell it at my phone because he heard his voice so often from it. He would actually point to things and ask "What's that?" and then wait for my response. He'd say "where'd it go??" after pushing a toy off his highchair tray and would even shrug with his palms up and flash the most mischievous smile afterwards. He would read books to himself - and if they were his favorites, he would recite the correct sounds on the correct pages with the same cadence that I read them. I could ask him where my nose, eyes, and mouth were and he would point to them accurately.
I can't tell you how badly I want to see his cognition improve.
Again, we DON'T KNOW how well this drug is going to work or IF it's going to do anything at all. But we sure have hope that something will happen. And something even BETTER is going to happen once we're able to finish the new drug we're raising money for right now through our campaign.
My little Damian is a fighter and I can tell you, during big growth spurts, Damian comes back. Not in a major way, but every once in awhile he'll do things that catch me off guard - like pull himself an inch forward while lying on the ground, or start to say "Daddy" but then seemingly forget how halfway through, or appear as though he's trying to wave or clap, or suddenly have a moment of control and seamlessly grab the thing he's looking at. Those moments (and they are truly just quick moments) seem to say to me that Damian can heal if his body is given the help it needs. He is still in there.
Tomorrow is a really really really big day.