Who knew there were such things as Halloween miracles???
For those of you who don't watch our weekly "Story Time with Damian" Instagram Live update, I'll start at the beginning (if you don't need the download, skip ahead to the header "The BIG News!!!" by CLICKING HERE).
Damian needs 2 treatments to survive this disease. One of them is already created but only available under what is called a "Compassionate Access" program, since it is a fairly new product and not yet FDA approved. So Damian has to get approval from the pharmaceutical company that owns it in order to have it sent to our hospital. That process has been started and the pharmaceutical company was supposed to have met to discuss whether or not they will approve it for Damian a couple weeks ago. Apparently when they finalize the decision they will record it in their computer system which our Children's Hospital (CHLA) has access to view, but our CHLA research study coordinator tells me she keeps refreshing the screen and an approval is not showing yet.
The purpose of this first drug - which is called "Olipudase Alfa" and is administered via Enzyme Replacement Therapy (ERT) - would be to break down the Sphingomyelin buildup everywhere in the body from the neck down. The Sphingomyelin buildup is caused in the first place because Damian is deficient in an enzyme (Acid Sphingomyelinase) that normally would break it down (hence the disease is called Acid Sphingomyelinase Deficiency or ASMD). As a result of finally being able to break down the Sphingomyelin and recycle it properly, the liver and spleen (which are very enlarged due to the buildup in the now-swollen cells) would be expected to shrink down to their normal size, likely making life a lot more comfortable and putting less pressure on the stomach.
What ERT wouldn't be expected to do is cross what is called the "Blood-Brain Barrier" (BBB). Like I said, ERT would only help from the neck down, since the body's natural makeup prevents just anything in the blood stream from getting up into the brain. It's really difficult to make a drug that would get up there past the BBB without directly inserting it into the brain (and apparently, for whatever reason, this Olipudase Alfa wouldn't do much good up there if they were to try that).
The life-threatening part of this disease is the fact that Sphingomyelin is building up in the brain too, causing degeneration like Alzheimer's. Damian's brain is deteriorating and causing it to stop sending signals the way it's supposed to. Brain signals are obviously responsible for telling all muscles to move, so Damian's muscle tone is getting weaker and weaker - and not just muscles that we think about top-of-mind, like to move arms and legs, but also the ones that allow us to chew and swallow and even breathe. As the brain deteriorates, Damian is also losing his memory slowly, and eventually it will get harder for him to see and hear as well. We desperately need a treatment for Damian's brain and it is that treatment that we are campaigning so hard for.
The Brain Drug
Because of the Wylder Nation Foundation's tireless efforts of over almost a decade to develop this brain drug that we need, there is hope that a treatment will be created in time to save Damian's life (as long as we can expedite the development by raising awareness and ultra-boost funding). There have been (and continue to be) a lot of studies done on rats/mice with ASMD and a few years ago, the first human trial ever occurred with this "small molecule drug". There are good theories on why it wasn't as effective as everyone hoped (the doses were totally minuscule and unfortunately the toddler was already very far along in his regression), but this study was successful in proving that the drug was safe (wouldn't do any harm), so there is a lot of optimism in trying the study again with higher doses.
What I had no idea about before all of this, was that drugs and even molecule structures themselves can be patented. These licenses can then be sold and traded around pharmaceutical companies. Crazy, right??
Well that's what happened to the drug that was used for that human trial. After the toddler passed away, the hospital creating the drug stopped making it (it was only being made for him), and the pharmaceutical company sold the key ingredient (the "small molecule") to another company.
The new company bought it under the presumption that it was an ingredient for making a PTSD treatment (which it currently is in the research pipeline for). Meanwhile, a lot of conversations have been happening with this pharmaceutical company to try and bring them up to speed with the history of this drug in its potential for treating ASMD and maybe even other rare diseases. However, I never reached out personally because I didn't want to risk messing up a productive conversation.
I am learning though, that productivity is driven most quickly by the people who care the most. And no one cares more than a mom. At no fault of their own, there's a difference in persuasive capacity between totally selfless, wonderful people who are passionate about helping others and people who can't sleep because their baby is dying. There just is.
And we are on a really tight schedule here.
The BIG News!!!
Undoubtedly, a miracle has happened this week. An honest-to-goodness miracle.
When the productive conversations mentioned earlier were no longer being productive, we decided to reach out directly. I had already been going through each board of director's bios and LinkedIn accounts, trying to find out if we had any connections - through family, through friends, through employers, through church. Ultimately, we were able to connect to the pharmaceutical company via Brock's dad's work and finally, finally were able to make a direct contact with none other than the pharmaceutical company's chief of staff!! And to our IMMENSE GRATITUDE, she was immediately wonderfully eager to help!!!
We crafted an email requesting that the pharmaceutical company simply send batches of the key ingredient they owned to CHLA so that Damian's doctors could mix up the recipe for the same drug that was made for the little boy a few years ago. And then Brock's dad sent the email. And we prayed.
Very late on Halloween night (only a week ago!) we got a response from the pharmaceutical company. I held my breath as I read the email, but oh my goodness you guys. They said YES!!!!
Although they stated there is a process for single-patient approvals for experimental drugs, they confirmed that they did have the ingredient we needed and that they have enough to support the study we wanted to pursue. Since that email, they have been in contact with us almost daily to provide any assistance in getting the formal application submitted and have proven to be anxious to help us get this going as fast as possible!
It's a miracle!!!
What We've Been Doing This Week
We've had NO time to celebrate! It's game time. I stayed up past 2am at the start of November, emailing doctors and the foundation. I planned to call CHLA at noon if I didn't hear back, but gratefully Damian's doctor responded first thing in the morning to confirm that they had begun the application process.
Lots of conversations have needed to happen and I can't tell you how much adrenaline I've had this week trying to push them along. The first step in all this is for CHLA to submit this application to the pharmaceutical company so that the pharmaceutical company can legally ship the key ingredient to CHLA. The application basically has to prove that CHLA knows what to do with the ingredient once it gets there (what the complete drug recipe is, how it's going to be made, the plan for doses, how they are going to administer it to Damian, etc.). As far as I understand it, once the pharmaceutical company gets that application, they have to then submit it for IRB/FDA approvals. I believe once they receive those approvals, they can start shipping it to CHLA.
Needless to say, I'm anxious for this application to get sent in!! I'm following up tomorrow with Damian's doctor to check on the status. The bulk of the work was already done when the same application had to be written for the young boy a few years ago. Updates have to be made (like, at the very least, updating the patient's name, the drug's name, etc.) but I can't imagine it needs to be much more than that, at least for right now. Obviously we are going to change the plan for the dosing amount, but the pharmaceutical company said things like that don't need to be perfect right now - they just want to get their paperwork process started in the interest of time and can make those important updates as conversations continue and they prepare for the IRB/FDA approvals.
I do not know how long it will take to get all the government approvals, but you can bet I will be doing everything possible to expedite the process. I am SO IMMENSELY GRATEFUL for the pharmaceutical company's chief of staff, our doctors, the foundation, and everyone else who has also been showing a real sense of urgency. Seriously. What a miracle!!!
So Do We Still Need to Campaign?
YES. Oh my goodness, yes.
This study we are pushing forward is, for now, likely to be funded by the first $500K that we have raised. In a very perfect situation, this drug would be a miracle pill and would be all that Damian needs to break down the Sphingomyelin in his brain and, in a truly miraculous recovery, allow him to heal the degenerated portions of the brain.
But likely not.
It is expected that this drug will help, yes. And for pity sakes, it's SOMETHING! But we don't know yet how effective it is going to be. There are already other small molecules being tested on rats that may prove to be an even more effective solution. And of course, there is a separate treatment method called Gene Replacement Therapy that is being studied right now which is expected to be available in a few years - this timeline could be shortened dramatically with an extra $3 million in funding, which is our campaign goal!
Our hope is that the small molecule study we're progressing now will work well enough to at least pause the brain deterioration until we can develop a better solution. So while getting Damian this first treatment, we simultaneously need to be continuing to raise awareness and funding for a true and total treatment of ASMD. Which brings me to MORE news!
Wait! There's MORE GREAT NEWS!?!
I told you this week was big!!!
Not only did an article I wrote get published this week in the Church of Jesus Christ of Latter-day Saints' Gospel Library (which you can read here), but I was also approached this week by a producer of... The Dr. Oz Show! (insert shocked emoji face)
Can you believe it!? I don't know how they found me, but they did and they said that they are doing a segment on Niemann-Pick Disease and would like to interview me, to represent Niemann-Pick type A/B (aka ASMD), as well as a mother who has a daughter with Niemann-Pick type C (which has some similarities to ASMD, but is a totally different disease). Funnily enough, I know the mother they are interviewing as we both are in Los Angeles and share the same genetics doctor!
Today I'm sending the Dr. Oz team a write-up for them to put on their website so people watching can visit the GoFundMe and read about our campaign, and then I am also putting together photos and videos that they will use in a video package during the episode. How exciting is this?!? What a HUGE help in exposure this will be!!!
I don't know when the episode will air, but they will be filming me (and Damian on my lap!) this upcoming Friday, November 12th, which also happens to be my birthday!
I Am PUMPED!
I'm trying really hard not to waste time wishing that we had gone and reached out to the pharmaceutical company ourselves back in March. We didn't know this would happen. I continue to have faith that God's plan is better than ours and since we were not inspired to reach out months ago, I have to trust that where we are standing now or where we will be in the future would not be drastically different if we had known more and made different choices earlier on. Changing the past is beyond our control. We just need to keep moving forward.
I am anxious to keep things moving as Damian continues to get weaker and slower. Again, I have no idea how long this FDA approval process is going to take, but I really really want to get treatment for Christmas. I can't think of a better present, can you??
Thank you all so much for your continued support of our family. Together, we are making such a difference. Someday, babies with this disease will be screened and diagnosed before they are even born, be able to get treatment before symptoms start showing, and these precious souls will be able to live a full and normal life. And because of all of your help in raising funding and spreading awareness of this disease through social media posts, Facebook fundraisers, community bake sales, fun runs, lemonade stands, garage sales, wearing t-shirts, and handing out flyers or taping them to your window, we are actively getting closer to treating this disease. We can absolutely #SaveDamian. And every baby with ASMD. Thank you thank you thank you thank you <3
Please note that I am not a doctor or trained medical professional. I do my absolute best to express accurate information. If I get something wrong, I will correct it as soon as I'm made aware of it.
I continue to be in awe of you and of the tiny miracles and big miracles you receive and mostly of the miracle that Damian is. He blesses all of our lives. Thank you for sharing his story with the world.