Takeaways from our 1st NNPDF Conference!

I honestly cannot believe we are already in the last half of July!!!! It's all going by so fast!!

We did our massive 4th of July Parade project and then just a few days later we were driving to Utah for the highly anticipated NNPDF Conference in Salt Lake City.

Thanks to those of you who followed along on our trip in my Instagram stories! I promised I would give everyone the download of everything I learned about the development of the treatment we are campaigning for... and I'm ECSTATIC to say that a lot of progress has been made!!

So without further ado:

Our 1st NNPDF Conference

For context: "NNPDF" stands for the National Niemann-Pick Disease Foundation, which is a non-profit that advocates for people who are fighting all forms of Niemann-Pick Disease.

Niemann-Pick Disease can be divided into two categories: "Niemann-Pick Types A & B" and "Niemann-Pick Type C."

Within the past 15 years or so, it became clear that the two categories are actually two distinctly different diseases, so "Niemann-Pick Types A & B" were re-named as "Acid Sphingomyelinase Deficiency" (ASMD). However, the NNPDF is still committed to fighting and advocating for treatment for both diseases (ASMD and Niemann-Pick Type C).

The NNPDF conference is for patients and their families, doctors, researchers, and pharmaceutical company representatives to all get together under one roof and share perspectives and progress on developing treatments. They've held these conferences annually for 32 years - I've attended virtually for the last couple conferences, but this year was the first one I've been able to attend in person!

As you can imagine, it was great to finally talk with people I've known for years but have never met in person! The 3-day conference included keynote speakers from people who are bringing new technologies to the industry, break-out sessions for us caregivers to share struggles and wins and provide support to each other, presentations about everything from current research projects to navigating the special education system, and fun activities and meals to bond over (ending in a dinner, dance, and awards ceremony on the closing night).

The Wylder Nation Foundation

As you probably know, all the funds we raise in our campaign go to the Wylder Nation Foundation (WNF), which is the only organization laser-focused on developing the treatment we need to save Damian's life. All of the research presented at the conference in relation to addressing the neurological aspect of ASMD came from the WNF's team. In fact, one of the NNPDF board members prefaced one of their presentations by saying, "If [a brain treatment] is going to get done, it is going to be from the work the Wylder Nation Foundation is doing."

I'll be honest, because I talk so frequently with the WNF, I already knew the gist of everything that was formally presented at the conference, but still - I thought this post would be a great time to share the key points of where we're at with the treatment development!

"Brain Treatment 2.0" Updates

• The WNF has been collecting medical records from 22 ASMD patients for about 2 years now (Damian's included!) and they have begun compiling and analyzing the data (which includes over 400 X-Rays, MRI scans, and other images, over 8,200 clinical documents, and more than 48,000 blood labs). The first round of data analysis is expected to be completed by the end of August!

• They are getting closer to discovering their Holy Grail in ASMD treatment development: a "biomarker" (a measurable bodily substance) that can tell us specifically how the brain is doing in relation to ASMD. This is crucial to identify in order to regularly test how effective a treatment is in a living patient (currently in mice studies, they have to take samples from the brain to find out how their study went). They just discovered that "m/z 805" is something in plasma that can be measured in a simple blood draw that may indicate brain health in relation to ASMD. This would be HUGE if they can confirm it!
  

• Studies on the experimental "Brain 1.0" treatment (which Damian is currently taking) continue to push forward

• Other drugs are being studied that affect the same area of the brain that the "Brain 1.0" drug affects - to see if taking these drugs could be an additional help

  • These other drugs are already on the market for other uses, which means if their studies show that they are helpful -and not harmful- in cases of ASMD, we could potentially start trying it right away!!

• The drug that Damian takes by infusion at the hospital every other week is really effective in treating ASMD everywhere but the brain simply because the brain's natural barrier does not allow the drug inside. However, they discovered that if the same drug is infused via the lungs, some of it could reach the brain. The technology required to test this (and adapt the drug for lung intake) is very new and advanced, but there is a small biotech company that is interested in putting a lot of resources into testing this! Fingers crossed they actually go forward with it!
  

How are these big steps forward?

We are steadily approaching a massive tipping point in developing a sure brain treatment for ASMD. That point is where the small and dedicated research team that has been studying this disease for decades finally has enough information to convince a pharmaceutical company that a treatment can be designed and a successful trial can be conducted for ASMD.

Before a pharmaceutical company will come on board, they want to know (1) enough info about what the disease is, (2) how the disease progresses in a typical patient, and (3) what can be measured and tracked while someone is taking a treatment to prove that the treatment is working.

As you can see, the bulletpoints of progress shared at the conference last weekend addressed each of those things and we are zeroing in on the answers! Ultimately, we need a pharmaceutical company to come on board and manufacture the final treatment so that it can be taken by humans (not mice). Once we satisfy their 3 expectations, there is a lot of buzzing optimism that a pharmaceutical company would then commit their resources and man-power and take us to the finish line.

THANK YOU!!!

I noticed in talking with those who had been going to this conference for several years that many were excited that so much of the conversation this year was about the need for brain treatment for people with ASMD. The reason that it was talked about so much, though, was because there was a lot more progress to report! Earlier this year, the Wylder Nation Foundation told me that because of the recent surge in funding and attention (hello, that's because of YOU), they have been able to work faster than ever. Instead of doing one study at a time, they have been able to do multiple studies simultaneously.

Because they've been able to make such progress, they are becoming more and more "attractive" to pharmaceutical companies large and small that are wanting to prove their new technologies and create effective treatments.

We are closing in on our target. We are so close.

Shortly after Damian was first diagnosed, I met with the doctor with the most experience with ASMD patients over a Zoom call. I remember asking her bleakly if treatment for my son was something like 20 years away or longer from being a reality. "No, no," she said, "it's more like 5."

That conversation is what first made me realize that simply fundraising could make all the difference (for Damian) at this point. AND LOOK WHAT WE'RE DOING!!!

The Bottom Line

I know this is a lot of info if you are like me and did not get a degree in pharmaceutical drug design, but hopefully some of this made sense!

The bottom line: the $3 million dollars we are raising is actively helping us make a REAL treatment that will not only help Damian but will fundamentally change this rare disease community forever. We are getting closer and closer to that every day.

It's going to be a PARTY when we get there!!! And you will all be invited!!!

<3

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Please note: I am not a medical professional. Any errors contained in this article are entirely accidental and will be corrected as soon as I'm made aware of them.