We are thrilled to announce the official launch of Rafa’s Moonshot, our research fund dedicated to finding a cure for STXBP1 disorders and related single-gene diseases. Our blog aims to share updates on our ongoing research, highlight new advancements and technologies, and share inspiring stories from pioneers in the field of rare diseases.
Diagnosis Day..
In February 2023, our lives were turned upside down when Raphael was diagnosed with STXBP1, a rare genetic disorder that affects the brain’s ability to communicate internally. The diagnosis came with daunting terms: “developmental delays,” “epilepsy,” “lack of speech.” Eventually, the doctor informed us, “There is no cure.” We were devastated, but a silent whisper of defiance echoed in our hearts: “There is hope.”
Back then, what did we know about rare diseases? It was something we only heard about in the news. We had a great, comfortable, and busy life as young parents to our amazing Raphael, and we were also deeply involved in advancing our careers—I was expanding my cybersecurity startup (Perimeter 81), and Ella was completing her residency in Neurology and working on her clinic in Aesthetic Medicine. Life took a sudden turn on that dreadful day.
“When life gives you lemons, make lemonade.“
A week after receiving the diagnosis, we shifted from grief to action. Life offered us a new path, and leaving all tears aside, we began to act. As an entrepreneur and a neurologist, we realized we could employ a unique strategy to address this ‘impossible’ challenge. Recent significant shifts have heralded a new era of bio-convergence—the fusion of biology and technology, which is our area of expertise.
Given all this, time was another critical constraint; Raphael is young, and we needed to act swiftly. Six months later, we achieved a breakthrough—Raphael started receiving the first drug we identified. But, that’s a story for another post 🙂
So, what are our plans for the research?
First, we invite you to visit our research page to learn more about our strategic plan and the progress we have made so far. We have worked incredibly hard over the past year.
More strategically, we plan to award grants to leading researchers and collaborate with CROs, Academy, foundations, and promising biotech companies to:
This journey is a rollercoaster that reminds me of my days in the startup world, but rest assured, we are on the right path!
Lastly, a word to Raphael:
Our dear child, the love of our lives—you are the greatest gift we have ever received. We are immensely proud of you and are your biggest supporters. Raphael, you inspire us all—you tirelessly work hard, confront challenges daily, and always find a way to succeed. Your strong will and determination shatter barriers every single day. Continue to smile, laugh, spread love and joy, and serve as a beacon of hope for those affected by rare genetic diseases.
We love you and will go to the moon and beyond for you.
It always seems impossible until it’s done.
Nelson Mandela
It’s time to launch and accelerate our scientific quest for a cure, for Raphael and for the many children out there suffering from rare genetic diseases.
Feel free to contact us at hello@rafasmoonshot.com.
Sagi and Ella
