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Treatment Update: Brain 2.0 & MORE

Updated: Sep 13, 2023

Phew, what a busy (and exciting) summer it's been!

With so many fundraising events going on, from the 4th of July parade to the Taylor Swift Eras Tour, I haven't even had a chance to tell you about all the other stuff that has been happening on the medical side! And there's a lot Damian and I have been working on "behind-the-scenes," with just some of the big ones being:

  • Continuing ERT (Enzyme Replacement Therapy)

  • Continuing Damian's new "vegan+" diet

  • Getting new mobility equipment

  • Attending (virtually) the annual NNPDF conference to hear directly from the scientists about how development for "Brain 2.0" is going!

They're each worth talking about, so let's go through them one by one!


Note: this article contains links to Amazon - I get a commission off of every purchase made after people click a link then make any Amazon purchase in the same sitting. All profit is donated to our campaign! Thank you for your help!


How ERT (Enzyme Replacement Therapy) is going

It is AMAZING how far we've come and how much benefit we've gotten out of this treatment. Quick reminder: Damian needs 2 areas of his body treated: (1) his brain, and (2) everywhere else. ERT treats "everywhere else" and the drug was FDA-approved almost a year ago - the very FIRST FDA-approved treatment for this disease!!

Since we began ERT just before Christmas, we've seen Damian's tummy go from really distended (pot-bellied) and firm to the touch, to small and soft and squishy. Damian's liver was the biggest problem in his abdomen - being super enlarged, it was pressing hard into Damian's stomach and made him vomit constantly from all the pressure. Frequent (multiple times a day) and heavy vomiting has been something we've dealt with since Damian was born.

Y'all. I can't believe I'm saying this: Damian doesn't throw up anymore. It has been over a month now since he has thrown up. THIS IS UNCHARTERED TERRITORY FOR US!!! I don't have to pack 3 sets of clothes in the diaper bag anymore. I don't have to tuck bath towels around Damian when he's in his car seat anymore. I don't have to be nearly as delicate when I'm holding him. It's just not an issue anymore. THIS IS A BIG DEAL!!!

I'm often asked when Damian will get an ultrasound so they can measure the size of his liver - ultimately, we can see and feel his tummy by hand and know his liver is not as swollen (you could easily feel the outline of his liver with your hand before, and now you can't). But the more telling signs are the results of the blood tests that he gets done at nearly every infusion. While his liver enzymes (AST & ALT) aren't at a normal level yet, they keep trending lower and I am *really* looking forward to the day when we test them and they finally show as normal for the very first time ever (which is expected to happen eventually with this drug). We'll have to have a big party when that happens!!

How Damian's Vegan+ Diet is Going

I call it "Vegan+" because it's not just animal products that we have cut out of Damian's diet. We've also cut out pretty much all fats, even avocados, as well as things like soy, wheat flour, and other items that are relatively higher in sphingolipids. In normal-behaving bodies, those things are obviously really good, but Damian's body just collects those molecules and can't break them down - it's the reason for all the issues we're dealing with. I've since reached out to a handful of scientists who specialized in molecular nutrition, including the kind-of grandfather of the research into this specific disease, and while they said food is not the only way bodies accumulate Sphingomyelin (the sphingolipid Damian can't break down), they were happy to hear the difference I've seen in Damian since our switch and encouraged us to keep him on this diet.

The handy thing about the frequent blood tests Damian does is that we can monitor a lot of other aspects of Damian's health and even though we changed his diet dramatically, there haven't been negative side effects that we have seen and he doesn't seem to be "missing out" on key nutrients - I think that is mostly due to the vegan protein powder we mix in with his fruit and veggie purees.

This isn't a treatment, clearly. But wow has it made a difference.

** Please remember I am not a doctor - I don't recommend copying anything I do without doing your own research and consulting your own medical team **

New Mobility Equipment is in the Works

We're currently waiting on the arrival of the following pieces of equipment:

  • an adaptable wheelchair

  • a gait trainer

According to the mobility equipment provider, we may finally get these items in time for Christmas. Don't hold your breath though - I'm not (we've been working on these for over a year now).

In the meantime, we are certainly appreciating "Valentina," our second-hand wheelchair that we keep in the house, and our Special Tomato stroller that we take out of the house (the new wheelchair we are in the process of getting is supposedly able to fit in our car so we can take it places and will provide a lot more support to Damian than our current stroller does).

And while we don't have a gait trainer that would help Damian practice walking at home (we use one often at physical therapy!), we JUST got an indoor swing that allows Damian's feet to touch the ground. Damian loves swings and I was hoping this would encourage him to move his legs and kick against the floor to push himself. We've only had it for a week, but he ALREADY DOES IT!! Damian's therapists and I are all hopeful this will be really good for him!

Other new items we've gotten for Damian recently:

  • cervical collar - we often put this on Damian when he's playing with a toy or practicing standing and it's amazing how much it helps his posture! Since Damian's head is proportionally super heavy, this really has helped him not spend all his energy on controlling his head and be able to focus on the other parts of his body that we are trying to exercise. HUGE thank you to the people who sent us this suggestion!!

  • elbow braces/splints - Damian really dislikes these but his little arms are often so stiff from always keeping them bent and close to his chest and the splints are so good for him. They have been helping to give him support while stretching his arms out, and they have encouraged him to play with toys I put on his tray table!

We've also finally been able to get Damian a new set of AFO's (Ankle-Foot Orthotics)!! Damian got his first set of custom AFO's over a year ago, and it's been crazy to watch my little baby grow out of them! Can you believe how much Damian has grown??

When we got his first set last year...

And finally, the news you've all been waiting for!!!

Updates on the Development of "Brain 2.0"

Last month, the NNPDF (the National Niemann-Pick Disease Foundation) held their annual conference in Florida, and I attended virtually. Of all the sessions that were held, I of course was most anticipating the presentations by the scientists and researchers who are actively trying to solve the last part of the ASMD puzzle: the brain treatment.

My view during the conference

I'll try to explain my three big takeaways as simply as I can (though please feel free to ask me questions!):

Takeaway 1:

The Wylder Nation Foundation team (the ones who developed the Brain 1.0 treatment that Damian is on now) has been conducting studies on a different but very similar molecule that seemed to be even more effective at treating the brain than the Brain 1.0 molecule. They recently completed a study in Spain to see how the treatment worked on mice with ASMD.

What they found was that the treatment was very effective in vitro (aka in a Petri dish) but not very effective when given to the mice. A few tests that finished up earlier this summer confirmed a solubility issue (there was something about giving it directly to the mice that didn't allow the drug to work like it did in the Petri dish) and they ultimately had to make a choice: keep trying to crack the solubility issue (which may or may not work out) or switch gears. They chose to switch gears. Because the Brain 1.0 molecule was similar, and DID work very well on the mice (and seems to have made a difference with Damian!) they decided to return to it and try to make a true "2.0" version of that same treatment. They created a plan for a set of studies intended to determine how to optimize the drug and have already begun the first study, which is likely to finish this November. I'm hoping we'll have some good news then about next steps!!

Even though I, of course, had been hoping for the other molecule they were testing earlier this year to be completely successful, if they can instead make the Brain 1.0 molecule work a lot better - that would actually be the more ideal path forward, since it should take a lot less time on our (mine and Damian's) end to start trying it out as there is already a pharmaceutical company on board with creating it.

Takeaway 2:

In addition to the studies being done to develop "Brain 2.0," the team has been researching alternate ways of helping break down the Sphingomyelin buildup in the brain. Diet is, coincidentally, one of the things they have been researching, and I was very excited to hear that their early studies are showing "ellagic acid" as something that actually helps break down Sphingomyelin in the brain. Maybe not in an earth-shattering way, but it did help. (You can see their study report here)

I'd never heard of ellagic acid, but you can bet that I looked it up right away after hearing the name during the presentation: it's apparently found in a bunch of different fruits and vegetables, but is especially high in some fruits I've never heard of - like yellow raspberries, rose hip, and cloudberries. I found some photos of these online in case you are curious - have you heard of these before??

Apparently some of these berries are very rare and expensive. But thankfully, ellagic acid is ALSO found in normal raspberries, pomegranates, blackberries, and strawberries!

I actually found ellagic acid supplements on Amazon in capsule form derived from pomegranates (YAY, something I DON'T need a doctor to do for me!) and needless to say, we've been starting to mix it in with Damian's food. I haven't seen a change yet, but we did only just start it, so I'll keep you updated.

Takeaway 3:

Without getting too science-y here, a huge part of creating a drug is determining how we know the drug is effective. With Damian's ERT, for example, we learn a lot about the health of Damian's liver through blood tests, ultrasounds, etc.

However, the tests that they are running while developing Brain 2.0 are not ones that can be done on a living patient (at least, not without a lot of risk). Unfortunately, brain health is a LOT more complicated to test than liver health. This goes for all neurodegenerative diseases.

While I take my own reports of Damian's health very seriously and write lots of observations down and record a lot of video - the word of a biased mom who went to art school isn't enough to convince a pharmaceutical company or the FDA that a drug works or not. There has to be some kind of measurable, objective "biomarker."

A really exciting and recent development in the research was the possibility of finally discovering such a biomarker. There are a few different biological compounds showing potential that are being tested right now to see if they could be biomarkers, and there is a lot of excitement surrounding this effort for a lot of reasons. Having a verified biomarker that could be easily attained from a patient's body and tested regularly would allow us to prove scientifically that a drug is working. And that proof is absolutely vital to getting more people involved in the treatment development (mainly pharmaceutical companies) and would lead to much faster progress as far as development goes. The idea that we could potentially track Damian's brain health from a simple blood draw from his IV port - that would be a BIG DEAL.

I'm sure that was WAY too much information, so if you're just skimming through this post, at least read this:


The funds we've raised so far have been funding the studies happening right now to develop "Brain 2.0" as well as studies to find specific biomarkers that are crucial to getting treatment to the finish line - and while medical research is never simple nor does it always go exactly as expected, I am so grateful that those who are involved in this research are highly invested, innovative, and driven to design solutions for this rare disease community as quickly as possible. I talk often with the folks at the Wylder Nation Foundation of course, not just once a year at this conference, so I get to hear regular updates from them about how the current studies are going. I am confident and so grateful that we are in good hands. As they say on Shark Tank (my favorite show), this team just needs "fuel on the fire." And our crazy fundraisers and social media antics are doing just that!!!

THANK YOU for your help. There is a lot going on behind the Taylor Swift tie-dyed bed sheets and the caterpillar parade floats. And there is a LOT of good that is coming from you stringing beads on string and sharing Instagram reels and Facebook posts. Thank you so so much. Thank you thank you thank you.


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