This past week we gave Damian his 100th dose of his first-ever experimental treatment for ASMD and I could not be more grateful!!!
Besides celebrating with my baby (we had probably our best Disneyland day ever on Wednesday!), I thought it was also the perfect time to answer some questions I get a lot by explaining a bit about all three of the treatments that we've been fighting for since March 22, 2021 (diagnosis day).
How can you treat ASMD?
ASMD stands for Acid Sphingomyelinase Deficiency. The name describes the root of the problem: Acid Sphingomyelinase is an enzyme that exists in the cells of organs like the liver, spleen, lungs, and brain. That enzyme is supposed to break down a fatty substance called Sphingomyelin, which is also produced in those cells. But when someone is deficient in the enzyme, the Sphingomyelin builds up and physically fills up the cells, causing the cells to enlarge, enflame, and die.
Since the root of the problem with ASMD (historically known as Niemann-Pick Disease Types A & B) is the Sphingomyelin build-up, it makes sense that the way to treat ASMD is to either:
help the body produce more of the Acid Sphingomyelinase enzyme
break down the Sphingomyelin some other way
Right now, there are 3 treatments at varying stages of development and availability:
Depending on the severity of the disease with each person, some people with ASMD may need just one of the treatments. But those with more severe cases, like Damian, will need more.
Enzyme Replacement Therapy (ERT)
As of August 31, 2022, the first treatment for ASMD has been FDA-approved after having been tested in a clinical trial for a couple years. This is a BIG deal!
Here's how ERT works: the drug, which is a powder, is mixed with saline to become a liquid and then dripped directly into the blood stream through an IV every two weeks (for the rest of your life). The drug is designed to replace the defective (or non-existing) Acid Sphingomyelinase enzymes in the body with working ones. Ta-da! The logic is as simple as that - when the body gets working enzymes, it can now break down the Sphingomyelin and, over time, the cells will relax and shrink. In the patients who have used it so far, it has shrunk the liver and the spleen down to normal, it has improved lung function, it has reduced vomiting and other symptoms of ASMD, and more! I cannot WAIT for Damian to start reaping those benefits!! (Damian's enlarged liver currently takes up most of the space in his rib cage, leaving hardly any room for his stomach or lungs. That's what causes his frequent vomiting.)
Here's what ERT DOESN'T do: this particular drug does not affect what's going on in the brain. For good reason, the body naturally protects the brain with what is called the "Blood-Brain Barrier" and so not everything can get up in there. That's the case with ERT. So a child with a severe case of ASMD (like Damian) could get on ERT and get the benefits of a healthy abdomen and all of that, but the brain would still be deteriorating.
Most people with ASMD have the less severe version of the disease (Type B) and do not suffer brain damage at all, so ERT is basically the only drug they need. But babies and small children with ASMD, like Damian, whose brains are being affected (Type A or A/B), need something in addition to ERT. Something that will cross the blood-brain barrier. And they need to start it as soon as possible.
If you are wanting to start ERT, the drug is called "Xenpozyme (olipudase alfa)" and is owned by the pharmaceutical company Sanofi.
"Brain" 1.0 Treatment
The Wylder Nation Foundation (the nonprofit we are raising money for), has been working tirelessly for nearly a decade - bringing scientists, researchers, and doctors who are experts in this disease from around the world together to collaborate and finally solve how to treat the brain from Sphingomyelin build-up.
Their lab research recently found success with a particular small molecule. This molecule is a substance that inhibits "Fatty Acid Amide Hydrolase (FAAH)", which is the long name of another enzyme that exists in the brain's Endocannabinoid System (which is responsible for some of our brain's most critical functions: learning and memory, emotional processing, sleep, temperature control, pain control, inflammatory and immune responses, and eating). The FAAH enzyme is responsible for breaking down substances like Anandamide. If FAAH is purposefully prevented from doing its job, the Anandamide is able to build up a bit.
What the Wylder Nation Foundation's research team found was that, in a roundabout way (I'm trying to simplify the science here as much as possible!!), when the Anandamide builds up, it activates a brain receptor that in turn activates something called Neutral Sphingomyelinase - it's different from Acid Sphingomyelinase, but it will actually break down Sphingomyelin as well. So, the Brain 1.0 treatment is not inserting Acid Sphingomyelinase into the brain, but it IS breaking down the Sphingomyelin - and that is the goal, after all.
It turns out that this small molecule FAAH Inhibitor already existed in a drug form that was being tested in a pharmaceutical lab for treating people with PTSD. At the end of last year (October 2021), we reached out to that pharmaceutical company and asked if Damian could try it. They agreed, and Damian started taking the drug on April 22, 2022 (don't get me started on why it took that long - FDA laws, bureaucracy, and inefficient communication is what it comes down to).
We have seen GREAT results so far (I'm prepping for our 7-month report now, but check out our 3-month update if you haven't already!) and I couldn't be more grateful that we seem to have, at the very least, slowed down Damian's neurological decline dramatically. At this point, I'm positive we have bought ourselves more time. So taking dose #100 this past week is DEFINITELY something worth celebrating!!!
Could this "Brain 1.0" treatment that Damian is on now be enough to keep him alive? We don't know. Before the treatment began, Damian was on a constant and steep decline, and we started noticing benefits of the treatment after being on it for just about 2 weeks. But are the effects lasting? Are the effects strong enough? Are there some parts of Damian's brain still deteriorating at the same pace as before? Or is his brain still deteriorating, but at a little slower pace? I don't know and I'm not willing to just wait and find out. That's why I'm so anxious to get Brain 2.0 developed and started!!
If you are wanting to start this FAAH Inhibitor for your child with ASMD, the drug is currently only available through single-patient emergency access via an application to the FDA from your child's doctor. You will also need the consent of the pharmaceutical company that owns the drug. I highly recommend reaching out to the Wylder Nation Foundation to get this process started.
"Brain 2.0" Treatment
Currently, the Wylder Nation Foundation's research team is working on a second small molecule which they found to be far more effective in their lab studies at reducing the Sphingomyelin buildup than the small molecule Damian is consuming now. More specifically, they are currently running tests to work out the solubility of the molecule. Every test costs time and money.
But even when they have a satisfactory formula, more has to happen before a human being can take it: a pharmaceutical company has to be brought on to adapt the formula for logical human consumption (is it best swallowed? Is it infused into the blood? etc.) and then manufacture the final drug. All of that is easier said than done - pharmaceutical companies require data and analytics about those who have the disease to justify how certain decisions about the drug are made. That data is being collected right now by the Wylder Nation Foundation, about Damian and other children (every one of Damian's doctor appointments, ultrasounds, MRI's, sleep studies, etc. - ALL those results get sent automatically to a data collection company that the Wylder Nation Foundation enlisted), but soon a data analyst must be brought on to organize all of it for the pharmaceutical company. That analyst person or team is going to require compensation.
It's interesting to think about the actual steps that have to be taken to create a drug, isn't it? To me, it makes it feel so much less nebulous and SO much more doable. And the good news is that it is not only doable, but it is all currently in motion. All we have to do to get to the finish line more quickly is to (as Shark Tank's business mogul Kevin O'Leary says) "pour gas on the fire."
3 Ways to Help Expedite "Brain 2.0"
Help us fundraise! Every dollar donated to our campaign helps to pay for all the work I mentioned above - and so far, our campaign has made a huge and notable difference in the excitement surrounding the Brain 2.0 project. We are doing this!!! (Click here to see to our GoFundMe page)
Help us spread the word! This of course helps us fundraise because reaching new people means potentially getting more donations, BUT just as importantly, we want to get this disease into the sunlight and be recognized by people. Pharmaceutical companies are a LOT more likely to want to be involved with helping people with a disease they've heard of - especially if it's been getting publicity.
Additionally, I've received messages from mothers and relatives of babies with ASMD who had been searching for information online (I was there myself a year and a half ago!) and found my social media page simply because it was shared by someone else. The sad truth is that there are likely many babies being misdiagnosed or not getting diagnosed at all before it's too late. Sharing content about our campaign and this disease could bring some real answers and help to people looking for it... I know this because that has already happened many times.
Lastly, if you are part of the ASMD community, sign up for the ASMD Accelerate program! Whether it's Type A, Type A/B, or Type B, if you or your child (in heaven or currently fighting) has ASMD, please please please sign up for this. Remember earlier how I said the Wylder Nation Foundation is working with a data collection company to collect medical records for ASMD patients? That data is incredibly valuable to the research team and will be incredibly informative, persuasive, not to mention absolutely necessary for whatever pharmaceutical company signs on to be part of the Brain 2.0 project. Knowledge truly is power, and the more data that can be acquired from real people with ASMD experience now, the exponentially better-off we all are! (You can sign up here - feel free to email me if you have questions about it!)
What about Gene Replacement Therapy?
Those who have been with us since the very beginning may remember that we talked about Gene Replacement Therapy as a potential route for Damian. At this point in its development, that seems unlikely.
The logic of the treatment is this: the reason Damian is deficient in the Acid Sphingomyelinase enzyme is because he has a malfunctioning gene, right? So to 100% CURE the disease, you could remove that gene in his DNA and replace it with a working gene.
Simple to say, but super difficult and dangerous to do. It would require a pretty intense surgery to remove a gene and replace it with a new one - and then, what if there is a bad reaction? It's not like a medicine that you could just stop giving to the patient and then let it flush its way out of the body with time. A new gene is permanent. It's a flipped light switch that you can't turn off. There is no room for error.
All that being said, the development on this treatment is progressing and I am confident it will eventually become the sure way to cure ASMD for good, but it seems a bit out-of-reach timeline-wise for Damian, let alone anyone alive right now with infantile ASMD. There is still a lot of development to do and gratefully, there are much quicker options at this point.
WE ARE DOING THIS!!!
I am SO grateful for the Wylder Nation Foundation and EVERYONE involved in finding more immediate and safer treatments for babies fighting ASMD right now. We have come SO FAR. A year and a half ago, not a single child in the world was on a brain treatment, experimental or otherwise, for this disease. Since Damian started the Brain 1.0 treatment this year, more children have begun the process of doing the same, and I am ECSTATIC to say that Damian is no longer the only child on this drug.
Thank you so much for the hope you are giving my family and so many others. The change that YOU are initiating is absolutely game-changing for this community. We are so grateful.
Let's keep going!!!
Please remember I am not a doctor nor do I come from a medical background. If I make an error, it is an honest mistake and I will correct the post as soon as possible.