Marcelo Duhalde
Chief Growth Officer, Smartpatient
Rare disease innovation keeps advancing. New therapies and new mechanisms mean new hope. But here’s the reality: none of it matters if the people who could benefit are never identified. That’s the gap we need to close.
Rare disease symptoms are often non-specific. Conditions get misunderstood. Patients spend years moving between appointments without a clear answer. Families live with uncertainty. Healthcare systems absorb repeated testing and referrals. And pharmaceutical companies watch scientific progress fail to reach the people it was designed for.
Broad awareness campaigns help, reducing stigma, increasing understanding and encouraging people to seek advice. But reach alone doesn’t guarantee relevance. The real question is whether the right people encounter information that reflects their experience and helps them take an appropriate next step.
This is where precision changes the game.
Identification through smart health tracking
At smartpatient, we’ve supported millions worldwide who track their health through MyTherapy every day. That ongoing relationship gives us something rare in healthcare: a window into how people actually experience their conditions over time. We see patterns in symptoms, treatments and daily routines that can help identify who might benefit from disease-state education, long before a diagnosis is confirmed.
Patient identification must be education-first,
transparent and consent-led
We call this Precision Pattern Mapping. It allows us to reach people with relevant information at the right moment, helping them recognise that their experience may be worth discussing with a healthcare professional. Interactive self-assessments give structure to what they are feeling. Targeted content builds confidence to raise symptoms sooner. The goal is not to diagnose, but to shorten the path to the right conversation.
Supporting patients in taking the next steps
The pathway depends on context and regulation. Some experiences prepare people for an informed consultation. Others provide digital health assistance directly. Both make the next step more visible and less dependent on chance.
Trust is essential and must be earned. Patient identification must be education-first, transparent and consent-led.
The rare disease community needs awareness that’s useful, not just loud. Finding the right patient is a breakthrough in its own right because every meaningful care pathway depends on reaching the person who needs it.
