The Rare Mind : Let’s pause for a powerful thought. Together.

Let’s pause for a thought. Together.

Let’s Pause for a Thought aims to raise awareness of rare diseases.
No quick fixes, just real action towards faster, personalised treatments.
Each image tells a story of change, courage, and possibility. As you explore, ask yourself: What future do you see emerging?

Let’s connect…

… or learn more about Rare Diseases.

2025 showed us what’s possible when we combine data, compassion, and action. But there’s more to do. Let’s carry this momentum into 2026 with hope, urgency, and purpose. This marks one year since I launched Let’s Pause for a Thought to raise awareness of how technology can strengthen rare disease care. No quick fixes, just real action towards faster and more personalised treatments. Every step counts.

In rare diseases, every datapoint is precious. But we often lack the tools or systems to turn small datasets into actionable insights. With AI, that’s changing. We can now detect patterns, generate hypotheses, and shorten time to diagnosis. What role do you think AI should play in rare disease care?

Today we celebrate Universal Health Coverage Day True universality means no one gets left behind, not even those with complex, low-prevalence conditions. Let’s make rare disease care a basic right, not a luxury. What would universal coverage for rare diseases look like to you?

Many rare disease discoveries never reach patients. AI tools can help us translate findings into faster trials, personalised therapies, and care pathways that scale. Where do you see the biggest AI opportunity in rare disease?

Many children living with rare diseases face barriers long before they reach adulthood. School becomes harder when their needs are not fully understood. If each of us helps build a more inclusive environment, these children can grow into active members of society and be recognised for their strengths. Share your thoughts and help raise awareness. Together we can create more inclusive schools for every child.

Rare disease may sound distant…until it hits close to home. 300 million people worldwide are affected by rare diseases. This isn’t niche. It’s urgent. Who’s the one person that opened your eyes to this reality?

More than 70% of rare diseases start in childhood. Many face severe symptoms before school age. We need faster screening, inclusive education, and more paediatric innovation. How can we better include children in rare disease solutions?

Today we stand with everyone living with diabetes as we celebrate World Diabetes Day. While diabetes research receives essential support, many rare diseases still face major gaps. True equity means fair funding, visibility, and opportunities for all. How do we ensure that rare doesn’t mean forgotten?

It still takes 10–15 years to develop most treatments. This is not EVEN the case for rare diseases where time is a luxury patients don’t have. Data-sharing, AI modelling, and regulatory flexibility can help change that. What’s the one change that would speed things up most?

Behind many rare disease stories is a parent, partner, or friend providing daily care. Their mental health, finances, and quality of life matter too. Let’s make caregiver support part of the rare disease conversation. What’s one thing we can do to better support caregivers?

What if advocacy wasn’t just about voices – but also about evidence? Data-backed storytelling can shift policy and funding priorities. Let’s blend emotion with precision. What’s the most impactful stat you’ve seen in rare disease?

Empowering teachers, healthcare workers, and families with the right knowledge can change the rare disease journey. From early signs to patient support, awareness can lead to action. What’s one resource you wish existed for rare disease education?

Living with uncertainty, delayed diagnosis, and limited support takes a toll. Mental health care must be part of rare disease care. Because no treatment is complete without emotional well-being. How can we better support mental health in the rare disease community?

Imagine simulating how a rare disease evolves in a virtual patient – before trying a new therapy. That’s the promise of digital twins. With AI and real-world data, we can reduce risk and accelerate solutions. What ethical safeguards should we have for digital health models?

For many rare disease patients, a diagnosis is just the start. We need longitudinal data, follow-up care, and lifelong support systems. Let’s build research that follows the patient journey. What should post-diagnosis care look like in rare diseases?

Real-world data, patient registries, and genomics offer huge potential. But only if they’re collected, connected, and shared securely. Let’s turn data into discovery. How can we break down data silos without breaking trust?

Rare disease patients often wait 5-7 years for answers. AI and predictive data models can help clinicians spot red flags earlier, saving time, money, and lives. What’s holding us back from early diagnosis?

The most advanced technologies must be accessible and relevant to everyone – including those with rare conditions. Otherwise, we’re widening the gap. How can we design tech that truly includes everyone?

It’s not just about knowing rare diseases exist. It’s about understanding what patients go through – and how we can help. Education and empathy are two sides of the same coin. What’s one thing more people should know about rare diseases?

Less than 10% of rare diseases have approved treatments. To fix this, we need faster, smarter, more inclusive trials. AI can help match patients, simulate trials, and optimise results – even with limited data. How can we make research more inclusive?

AI allows us to analyse thousands of cases and tailor treatment paths like never before. This could be a game-changer for rare diseases – where standard care often doesn’t exist. What do you believe will accelerate personalised care the most?

No single organisation can solve the rare diseases challenge alone. We need researchers, patients, educators, and innovators working side by side. Let’s replace silos with shared purpose. Who do you think should be sitting at the table?

Medical breakthroughs often begin with a curious mind. That’s why we must make complex topics – like genomics, AI, and clinical trials – easier to understand. Especially for young researchers, educators, and advocates. What’s one topic you’d like simplified in rare diseases?

There are over 300 million people worldwide living with a rare disease. Yet, most of their stories remain untold. Raising awareness starts with listening. When we make these stories visible, we move one step closer to solutions. Given the holiday period we are in, whose story inspired you to act? Share it below.

This week we’ve celebrated the World Youth Skills Day (July 15th), and I’m reminded how powerful the right skills can be for everyone. I’m such a big believer in lifelong learning! In the world of rare diseases, it might be a young researcher, a student, or a curious mind who sparks the next breakthrough. That’s why I believe in making complex topics like AI, data, and health easier to understand. So more people, especially young minds, can take action. Education fuels innovation. Skills create change. Let’s invest in both.

In my journey through rare diseases, tech and AI, I’ve seen this truth over and over again: we can’t fix what we don’t fully see. Raising awareness isn’t a side note — it’s the beginning. It sparks curiosity, drives research, and makes space for smarter, faster, more human solutions. This is why I started this movement. To turn understanding into action. 💡Leaders, it’s time to think beyond business and into transformation.

AI breaks down silos, connecting researchers, policymakers, and patient advocates globally. This collaboration accelerates knowledge sharing and aligns efforts, particularly in the field of rare diseases. Imagine the breakthroughs when everyone is working towards the same goal.

AI thrives on precision, not just volume. For Rare Diseases, where data is often limited, that’s game-changing. Even with small datasets, AI can extract powerful insights, and synthetic data is opening new doors. By simulating real but anonymised patient data, we can train models ethically and at scale, accelerating diagnostics and personalised treatments. Organisations working in rare diseases shouldn’t underestimate their data. With the right approach, even “small” can be mighty.

Artificial Intelligence isn’t just tech hype; it’s a solution. For Rare Diseases, it means better clinical trials, reduced costs, and improved lives. Leaders, let’s move from potential to practice.

The cost of inaction in Rare Diseases is too high to ignore. According to the EveryLife Foundation, the economic burden of untreated rare diseases exceeds $1 trillion annually in the U.S. alone, from lost productivity, delayed diagnoses, and unmanaged care. Investing in AI for faster diagnosis and targeted treatments isn’t just about innovation; it’s about reducing suffering, saving lives, and delivering measurable societal impact. The organisations leading this transformation won’t just gain financially. They’ll define a new standard for profit with purpose. Are you ready to lead on both impact and return?

🌍 On World Environment Day (June 5th), let’s expand the conversation. Caring for the planet also means caring for people living with Rare Diseases. Clean air, safe environments, and smart use of AI and data can transform care, from faster diagnoses to personalised treatments. The health of our planet and its people is deeply connected. By investing in digital education and innovative tech, we can create a future where rare communities are no longer left behind. Be a Rare Mind. Think Rare. Act Bold. Share, learn, and advocate for a healthier, smarter, and more inclusive world.

AI can spot patterns in patient data faster than ever before. For rare diseases like ZTTK Syndrome, this means earlier diagnoses, reduced patient suffering, and optimised healthcare resources. Faster answers, better futures.

📡 On May 17th, World Telecommunication Day, I’d like to highlight how 5G is transforming healthcare. Faster, more reliable connectivity enables real-time remote care, AI-driven diagnostics, and wearable health monitoring. This is such a game-changer for rare disease patients needing specialized care. Grateful for the innovators making this possible!💡

International Nurses Day (May 12th), we honor those who provide compassionate care, especially for rare disease patients. AI and robotics can assist nurses by automating tasks, enhancing diagnostics, and enabling remote monitoring—freeing time for human connection where it matters most.
Grateful to all nurses driving change!

AI decisions can impact lives. In rare diseases, ethical AI ensures fair access and avoids biases in research and care. Governance leaders, your role in guiding ethical AI is non-negotiable. Will your legacy reflect trust?

What if you could foresee outcomes? AI predicts patient needs and health trends before they emerge. This empowers C-levels to plan proactively, saving time and resources while improving lives. The future isn’t far away; it’s already here.

🌍 Earth Day, Green Tech & Rare Diseases 🌱
On April 22nd, Earth Day, let’s celebrate how technology and innovation are driving solutions for climate change. But, sustainable healthcare isn’t just about the planet, it’s about better care for rare disease patients. Smart healthcare, predictive analytics, and Telehealth reduce environmental impact while improving access to treatment. A healthier planet means healthier people. How can green tech transform healthcare?

AI enables tailored treatments, moving us away from one-size-fits-all care. In ZTTK Syndrome, it creates pathways for more precise interventions. Personalisation isn’t just patient care; it’s strategic foresight in healthcare innovation.

On World Health Day (April, 7th), let’s reflect on how digital transformation reshapes healthcare. Telemedicine, AI, and data-driven insights revolutionise patient care, making it more accessible, personalised, and efficient. For those with rare diseases, these innovations are game-changers. AI accelerates diagnoses, digital health tools bridge care gaps, and telemedicine connects patients with specialists worldwide. The challenge is ensuring these technologies serve everyone, especially those who need them most. I’m also grateful to all healthcare professionals who dedicate their lives to improving patient care. Your work makes a difference every single day!

AI influences strategy, operations, and outcomes. In rare diseases, your leadership in adopting AI could redefine patient care. Are you ready to lead the change?

Fear AI? Don’t. It’s not here to take over; it’s here to help. For rare disease specialists, AI handles data so humans can focus on what matters most: compassion and creativity. Let’s all together reframe AI as a tool for good.

AI isn’t just for labs; it’s for leaders. It helps craft data-driven policies that work. For ZTTK Syndrome, an ultra rare syndrome, this means better healthcare systems and access. Smart governance leads to impactful strategies. Are you ready to embrace it?

On International Mathematics Day (March 14th), we celebrate the power of math in driving advancements in AI and machine learning. These mathematical foundations are transforming industries, including healthcare, bringing smarter solutions for rare diseases. Let’s embrace the potential of math to innovate and create a better future for all.

This International Women’s Day, we celebrate women shaping the future of tech and healthcare. They’re driving real change for people with rare diseases, offering hope and creating new possibilities for better care. My gratitude to all women on this International Women’s Day.

On Rare Diseases Day, let’s reflect on the power of innovation in diagnosis and personalized treatments. By embracing cutting-edge technologies, we can create tailored solutions that bring hope to those living with rare conditions. Together, we can drive progress, ensuring that every patient receives the care they deserve, no matter how unique their needs may be. The future of healthcare is personalised, and it starts with each one of us.

Overlooking AI in strategy is like choosing to drive with your eyes closed. When it comes to rare diseases, it’s not just about efficiency, it’s about turning years of searching into months of progress. The right choices today mean faster diagnoses, better treatments, and a future where no patient is left waiting. Innovation is happening. Are you leading the way or watching from the sidelines?

With the ability to analyse genetic data many times faster than humans, AI is opening doors to faster insights and potential therapies for rare conditions like ZTTK Syndrome. By embracing AI, organisations aren’t just accelerating innovation, they’re offering hope to families waiting for answers. What breakthroughs could technology bring to the rare disease community next?

This Valentine’s Day, let’s pause to reflect on the power of innovation and AI in transforming lives, especially for those affected by rare diseases. As patient advocates, we hold the power to create change by embracing an abundance mindset, one that sees possibilities, not limitations. Together, we can push the boundaries of healthcare, harnessing technology to offer hope and better futures for those waiting for answers.

AI isn’t just about crunching numbers. It can humanise data. Rare Disease advocacy groups can use it as a tool to deeply understand patient needs, deliver personalised support, and amplify their voices. What if your strategy didn’t just inform but made every patient feel seen and heard? So, Let’s Pause for a Thought.

AI has the power to transform scattered information into actionable insights, driving smarter decisions where it matters most. In Rare Diseases, this means connecting global research dots to uncover new treatments and possibilities. What if your data could do more than inform. What if it could save lives? So, Let’s Pause for a Thought.

Education is the key to unlocking change, especially in the world of Rare Diseases. Today we celebrate the International Day of Education. Let’s reflect on how empowering minds with knowledge can drive breakthroughs for those who need it most. How can we use education to transform Rare Disease care and bring hope to more families? So, Let’s Pause for a Thought.