top of page

We met the developers of Damian's treatment!


Had to snap a photo with the founder of the Wylder Nation Foundation, Steven Laffoon!

If you follow my Instagram stories, you'll know we have spent a bunch of time in San Diego this month. A week ago some friends of ours got married on the most beautiful sunny day (sandwiched between days of torrential downpours!)


Just a couple days later, we came down again to attend one day of the 20th annual World Symposium: a week-long conference for researchers, scientists, and doctors to present and discuss research and development of treatments specifically for lysosomal diseases (diseases caused by malfunctioning lysosomes).


According to WebMD.com, there are more than 50 lysosomal diseases, and ASMD (Damian's disease) is one of them. While of course each disease is unique, the fact that a malfunctioning lysosome is the main issue with all of them means that some methods of treatment or at least the logic behind treatments can potentially be copied and pasted, which makes this conference a really great idea.


The Conference

I was impressed by how many people were at the conference - I heard there were about 3,000 attendees in person. And I was amazed at how many different accents and languages I heard - this symposium was for researchers, scientists, and doctors from all over the world and I heard a lot of people speaking in what I think were German, Japanese, and Australian accents (among others!).


Each day the schedule was chock-full of speakers presenting their research on different diseases and technologies. I actually wasn't able to attend any of the presentations because you had to be 18 or older to go in (and while Damian's new haircut makes him look older, the stroller and Mickey Mouse blanket we tuck in around him is a bit of a giveaway!)


I already knew this would be the case, and that was ok - all the presentations were recorded and will be available to watch online sometime this upcoming week.


The whole reason why we went was to meet people. And we did just that!



Damian's Meet-and-Greet


I wish I'd been able to get a picture of Damian meeting people during the conference– I guess you'll just have to take my word for it!


Among the 3,000 attendees were the researchers and doctors affiliated with the Wylder Nation Foundation, the nonprofit that all of our campaign donations go to. While we've met the founder, Steven Laffoon, multiple times (and we check-in with each other regularly over the phone), I had never met any of the research team - the actual people developing the treatment for Damian and all babies fighting ASMD. We also got to meet and visit with the researchers who helped develop the drug that Damian takes now by infusion every other week.


I was so happy that they seemed just as excited to meet us as we were to meet them! They asked a lot of questions about Damian and our experience with the infusions and the experimental brain medication he is taking (what I call "Brain 1.0"). With the experience I typically have with Damian's normal care team, it was so refreshing to talk to people who were eager to listen and listening to learn, not to mention they did so with an expert understanding of the disease. It gave me a lot of hope to hear people talk about what's being worked on and their determination to get to the next step.



Meanwhile, Damian couldn't have been more charming! He always knows when people are talking about him and gets excited and energetic every time, so he was a happy camper! We were sitting in a lounge to meet with people and when two ladies joined us to meet Damian, he got especially giggly and flirtatious- smiles and batting eyelashes galore! Classic Damian, putting on a show for the ladies!


Our trip to the NYC Children's Hospital in 2021. Can you believe how little Damian was??

We even got to meet with the doctor we saw in New York shortly after Damian was diagnosed. We hadn't seen her since that visit in 2021 and she was really excited to see Damian and so happy to see how smushy and soft his belly has become since starting the infusions (which is designed to help shrink his enlarged liver and spleen down to normal size).


There was one exhibit hall I was able to go in (only because Brock came with us so he was able to stay outside with Damian, yay!). Inside were a handful of booths advertising different bio-labs, pharmaceutical companies, and disease advocacy associations - all surrounded by a "poster gallery": about a hundred large posters summarizing studies recently completed about various lysosomal diseases, pinned up so people could meander through, ask questions, and network with the people who conducted the studies (those who did the studies were often standing next to their poster).



I was excited to see a few posters about ASMD, even though most were studies about the infusion drug that we are already taking. Don't get me wrong, those studies are really important, but as you can imagine, I want as much attention on the next thing, what I call "Brain 2.0," as possible.


I even saw a poster about a study that I participated in! The study summarized a survey of patients and their caretakers to see what life is like living with and fighting ASMD. I think it was last summer that I was interviewed and completed a simple diary exercise.


Seeing the results on the poster (as well as the reaction we got from everyone we met) was a reminder to me that many of these researchers don't actually have personal experience with the disease they are studying, and many of them had probably not even met someone fighting it.


At one poster (about ASMD and the infusion drugs' effects on the lungs), a man standing nearby introduced himself as someone who helped with the study. I told him that I was a mom of an ASMD-patient and that we'd been on the drug for a year - he was immediately captivated by everything I had to say about our experience. Another person walked up and listened in as I talked - she was another developer of the infusion drug. They both were so overjoyed to hear of the success we've had so far with it, the lady almost got emotional. She said hearing me talk about what a life-enhancer it's been for us made all her hard work worth it (I can imagine how much work went into it and goodness knows I am beyond grateful!).


I think meeting Damian was a morale boost for everyone there, and a good reminder that behind every Petri dish and lab mouse is a real-life human patient who is anxious to get help.


And Damian couldn't have done a better job representing his fellow baby warriors during this full day. Even though he refused to take a nap (at first), he was as cheerful and sweet as he could be to all his PhD-wielding admirers. You couldn't help but immediately fall in love with Damian, but that was no surprise to me :)


It wasn't until it was about time to go that Damian finally gave in to sleep while in his favorite snuggle position, hanging onto me like a baby koala.


My take-aways

My mind is always non-stop focused on "what is going to get us the lifesaving treatment fastest??" With that in mind, there were a few key items I took away from the conversations I had with the Wylder Nation Foundation and other researchers of ASMD at the World Symposium:


1. The faster money is raised, the faster treatment will be developed.

Ok, I guess I logically already knew this, but hearing these scientists talk with each other about their next steps and how bureaucracy and resources (money) were holding them back from getting there faster just reinforced the obvious.


There are a lot of wheels in motion right now:

  • patient data is being analyzed

  • Damian's current experimental brain medication is being tested for optimization

  • other small molecules are being tested as a potential additional brain treatment

  • improved testing specimens are being developed and will hopefully be ready in a few months

  • efforts are being made to bring pharmaceutical companies on board for their vast resources

  • and more


It all costs money. The good news is that these tasks are already in process, simultaneously - it's just a matter of pouring gasoline on the fire. The other good news: the money we've raised so far is already getting put to work and pushing all these efforts forward!! THANK YOU!!!!


2. More data from ASMD patients is needed, ASAP.

Ultimately, a pharmaceutical company has to come on board in order for a treatment to get manufactured and approved for human use. On our end, we're ready for them to join the team now. But pharmaceutical companies need to be able to design clear parameters of a clinical trial, and they can't do that unless they have a sufficient amount of data about the disease from patients who currently have (or passed away from) ASMD, so until we have that database, they are going to be hesitant to jump in and start the process.


The Wylder Nation Foundation has created a digital system through a company called PicnicHealth which is able to collect and organize medical records. The more patients' records are collected, the quicker it will be to find trends and identify what things should be measured in a clinical trial to test the efficacy of a drug. I signed Damian up for it right away. There are several other patients also signed up, but we need a lot more.


So please, if you are reading this and are a caretaker of a child with ASMD type A, A/B, or B, please please please enroll here today!!!



Damian's medical records are collected automatically from all of his appointments, therapies, and even surgeries and imaging (X-rays, CT scans, etc.) and I can view them all in one spot in this portal.

3. Recording and reporting about our life experience is valuable.

The last big takeaway I'll share is the one that was the most unexpected. Honestly, one of the main reasons I wanted to go all the way down to San Diego for this conference was because I thought that meeting Damian might invigorate the researchers and scientists and doctors and give them a little renewed sense of urgency. I know they're all working very hard, but a little extra push is always helpful, right?


I didn't expect all the excitement that we got from them though. It hit me while seeing so many studies featured in the poster gallery, not just on ASMD but on other diseases too, that so much effort was being made just to learn about the patient experience and what their life was like. Rare disease patients are just that: rare - and not always at your beck and call for questions.


It made me realize that my own monitoring of Damian - videos, photos, blog posts, written diaries and notes on my phone, are actually really valuable in helping medical professionals get a better understanding of the disease and coming up with new ideas on how to treat it.



And so, with that, I feel like I've got my marching orders. Time to get some (more) work done!


<3

341 views0 comments

Recent Posts

See All

Comments


bottom of page