In a recent episode of RARE, host Laura Hulley spoke with Pedro Rocha, President of Rett Syndrome Europe, about his personal journey into rare disease advocacy, the challenges facing families affected by Rett syndrome, and the organization's vision for improving care, research, and representation across Europe.
As both a father of a daughter with Rett syndrome and a long-standing advocate, Pedro offered a powerful perspective on the realities of living with a rare disease and the importance of uniting patient communities to drive meaningful change.
Pedro's introduction to the rare disease world began more than two decades ago when his daughter was born. Like many families affected by rare diseases, the path to diagnosis was long and uncertain. His daughter was not diagnosed with Rett syndrome until she was around five years old.
Reflecting on those early years, Pedro described the diagnosis journey as one focused on survival. Families often find themselves searching for answers, relocating to access specialist care, and navigating a complex healthcare landscape with little guidance.
After connecting with a local patient association in Barcelona, Pedro discovered the value of community support. Helping other families, sharing experiences, and reducing the sense of isolation became an important part of his own healing process.
"I didn't have a grand plan," he explained. "I'm just trying to help."
Rett syndrome is a rare neurodevelopmental disorder caused primarily by mutations in the MECP2 gene on the X chromosome. Because of its genetic nature, it predominantly affects girls and occurs in approximately one in every 10,000 births.
One of the most challenging aspects of Rett syndrome is that development initially appears typical. Children often reach expected developmental milestones before symptoms begin to emerge.
Pedro described how families witness a heartbreaking regression.
"Everything looks normal," he explained. "Then they start losing skills."
Children may lose purposeful hand movements, develop repetitive hand movements, and experience difficulties with communication, mobility, and motor control. Many are unable to walk independently or communicate verbally.
The condition affects multiple body systems and can be associated with epilepsy, breathing difficulties, cardiac complications, gastrointestinal issues, and other health challenges.
While the impact on the individual is profound, Pedro emphasized that Rett syndrome also reshapes the lives of entire families.
"It affects the patient, but it really reshapes the life of families."
The need for frequent specialist appointments, ongoing therapies, and lifelong caregiving places a significant burden on parents and caregivers.
As President of Rett Syndrome Europe, Pedro oversees an umbrella organization representing almost 40 national and local Rett syndrome associations across the continent.
The organization's primary goal is to bring together a fragmented community and create a unified voice capable of influencing policy, research, and healthcare decisions at a European level.
"We are much stronger when we are united," Pedro said.
Rett Syndrome Europe works closely with key stakeholders, including patient advocacy organizations, researchers, regulators, and policymakers. The organization maintains relationships with European institutions and regulatory bodies to ensure the needs of families are represented in important discussions about healthcare access, treatment development, and rare disease policy.
As new therapies begin to emerge, including promising gene therapy approaches, Pedro believes patient organizations have an increasingly important role to play in shaping the future of care.
One of the organization's most ambitious initiatives is rettX, a patient-led registry designed to collect and structure data from individuals living with Rett syndrome and their families.
Pedro described the registry as a project he has been working towards for more than a decade.
Historically, Rett syndrome data has been fragmented across institutions and countries, making it difficult to understand the true size of the patient population and the full impact of the disease.
The goal of rettX is to change that by capturing real-world experiences and converting them into meaningful, structured data.
The registry will help provide insights into:
Pedro believes this information could become one of the most powerful advocacy tools available to the Rett syndrome community.
By providing evidence-based insights, rettX has the potential to strengthen conversations with regulators, healthcare providers, researchers, and policymakers.
When asked what success would look like in five years' time, Pedro's first response was immediate:
"The cure."
While acknowledging that a cure remains the ultimate goal, he also outlined several important objectives that could significantly improve the lives of families affected by Rett syndrome.
Pedro believes the community must become more connected and coordinated across Europe. Building a stronger, more unified voice remains one of Rett Syndrome Europe's central ambitions.
Another priority is reducing the variation in care that currently exists between countries.
To address this, Rett Syndrome Europe is launching its first European Rett Forum, bringing together clinicians and experts from across the continent to begin developing more consistent standards of care.
Pedro noted that care remains highly fragmented, and improving alignment between countries could lead to better outcomes for patients and families.
He also hopes Rett Syndrome Europe will become increasingly recognised by regulators and institutions as a trusted advisor and influential stakeholder in rare disease decision-making.
By strengthening relationships with policymakers and healthcare authorities, the organization can help ensure patient perspectives are incorporated into future developments.
Finally, Pedro wants to see rettX become the definitive source of patient-driven data for Rett syndrome, helping to guide research, policy, and treatment development for years to come.
Throughout the conversation, Pedro returned repeatedly to the themes of community, collaboration, and hope.
While significant challenges remain, advances in research, growing interest in gene therapies, and stronger patient advocacy efforts are creating new opportunities for progress.
For Pedro, the future lies not only in scientific breakthroughs but also in ensuring that families affected by Rett syndrome are connected, represented, and heard.
As the Rett syndrome community continues to grow stronger across Europe, organizations like Rett Syndrome Europe are helping to ensure that no family faces the journey alone.
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