When Raphael was diagnosed with STXBP1, the doctor looked into our eyes and simply said “There is no cure.”
With just 600 diagnosed cases worldwide and barely any research available, the news felt devastating and frustrating. Ella and I refused to accept this grim prognosis – instead, we took action.
We had zero knowledge of biology and drug development, but luckily, we had other strengths that proved invaluable. Ella is a neurologist, and I’m a tech entrepreneur with a passion for problem-solving and innovation. Our daily lives revolve around challenges, innovation, and tackling complex problems – so we were already off to a good start for the daunting mission of finding a cure.
One week post-diagnosis, we started our journey to cure STXBP1. Below, I’ll outline the critical steps we undertook, viewed through my lens as a tech entrepreneur.
Finding a cure for a rare disease is a complex endeavor, and it demands understanding which steps are essential for success. Time is of the essence, and more than anything else we need to be fast, and efficient.
Let’s look at the core steps of our mission.
Our 5-Step Approach to the Mission
Step 1: Learning the Language of Biology
My knowledge of biology was non-existent prior to Raphael’s diagnosis. But we needed to grasp the basics of biology to engage with researchers, neuroscientists, clinicians, and pharmaceutical experts. Establishing a common language was essential to communicate and align with experts in this industry.
Ella and I started to familiarize ourselves with fundamental biological concepts. We watched a lot of videos about the basics of biology and interviews with scientists talking about STXBP1.
Gradually, we began to understand discussions surrounding STXBP1 and related research, without doing a university degree in biology. The goal was proficiency, not mastery, of this new language.
Step 2: Diving Deep into STXBP1 Knowledge
The next step was to learn everything we could about STXBP1. We believe knowledge is power, so we immersed ourselves in academic research about the disorder from PubMed, Google Scholar and other online sources.
We gathered a selection of top-rated articles that explained the different symptoms associated with STXBP1 – cognitive impairment, epilepsy, nonverbal communication, and movement disorders. As a parent, this information is scary to understand and I hesitated before diving in.
While Ella spearheaded the exploration, I gained the courage to face the harsh realities of STXBP1. After all, knowledge is power.
Eventually, we found two foundations that would soften our landing in the world of being rare parents: Rare Smile, and STXBP1 Foundation. Family foundations tend to provide soft landings for newly diagnosed families, plus they provide a great source of knowledge for disoriented parents.
The STXBP1 Foundation has a wealth of resources for both families and researchers, providing a great place for us to start as parents and founders of Rafa’s Moonshot.
Step 3: Expanding our Network
This step is an ongoing and iterative process. The key to creating a successful network was to identify all the possible STXBP1 researchers and biotech companies that could be useful, and bring them together. Luckily, as an entrepreneur, I have a vast network of connections to investors and biotech companies, so I started to reach out and have many meaningful conversations and new introductions.
I also connected with many influencers and inspiring people in pharma and the rare disease community. The convergence of researchers, influencers, biotech companies, and inspiring people in the industry initiated a strong cooperative network that would form the foundation of Rafa’s Moonshot.
Finding a cure for a rare disease isn’t a one-person job—it’s all about teamwork. It’s essential to have a strong network around us. We also need to break the research silos wide open and get everyone on the same page. Connecting all the dots is the path that will lead us forward.
Step 4: Building a Research Infrastructure
Drawing from my experiences in previous companies, we prioritized building a robust research infrastructure that allowed us to scale the business. In our case, it was clear that we needed this infrastructure to learn more about Raphael’s mutation and start testing new drugs and potential therapies.
Recognizing the time-intensive nature of biological research, we quickly started to establish four disease models: IPSCs, Neurons, C-Elegans, and a Mice model. To give you an idea of how quickly we were working, two weeks post-diagnosis we started to develop the cell line model.
Understand this: biology takes time. The complexities of biology presented formidable challenges. However, our commitment and strategic allocation of resources allowed us to create a research infrastructure primed for scalability and innovation.
Invivo Bio’s humanized R292C hSTXBP1 C. elegans (worms) strain. Animals carrying the R292C variant of the hSTXBP1 gene have pronounced movement defects, and therefore can be used as a platform to screen for compounds that restore the phenotype back towards more wild-type movement behaviors.
Step 5: Crafting a Strategic Plan
We had to have a northern star, a concrete plan that would focus us along the way. We knew that we needed a solution here and now, quick and dirty, but we also had to think about the long-term plan.
In the short term, our focus was on identifying potential treatments and therapies to mitigate Raphael’s symptoms. We also focused on building a research infrastructure, as mentioned above, and on drug repurposing projects, which means finding an FDA-approved drug that might improve Raphael’s condition.
Simultaneously, we recognized the importance of investing in long-term research initiatives aimed at finding a definitive cure for STXBP1 and related disorders. This involved funding scientific studies, establishing collaborations with leading research institutions, and advocating for increased awareness and funding for rare disease research. In our following blog posts, we will thoroughly review the strategic plan for deeper clarity.
Looking Forward
Looking ahead, our strategic plan continues evolving as we progress and encounter new opportunities and challenges. However, our commitment to finding a cure for STXBP1 remains unwavering. We are confident that by following the steps above, we will ultimately achieve our goal of improving the lives of families affected by rare genetic diseases.
As I reflect on our journey thus far, I’m reminded of the power of determination, collaboration, and innovation in the face of adversity. When we received Raphael’s diagnosis, we were met with deep uncertainty and despair. However, instead of succumbing to those dark feelings and grief, we chose to take action instead.
But our journey is just beginning. There are still challenges to overcome, obstacles to navigate, and discoveries to be made. And as we press onward, we invite you to join us in our mission to make the impossible possible, one breakthrough at a time.
