The strategy behind rare disease advocacy: how Meagan Cross is driving change

When Meagan Cross’s daughter Molly was diagnosed with Angelman syndrome, the prevailing message was clear: it was a severe neurogenetic condition that could not be altered. There was no treatment pathway to pursue. 

Angelman syndrome is a rare genetic disorder that affects the nervous system. Children are typically non-verbal. The majority experience seizures. Many require lifelong, multidisciplinary care. 

For many families, that message defines the road ahead.

For Cross, it marked the beginning of a global advocacy strategy.

From diagnosis to global advocacy

In the days after the diagnosis, Cross began reading everything she could find.

Among the limited research, one newly published paper stood out. An American scientist had used gene therapy in mouse models to reverse key features of Angelman syndrome, challenging the long-held assumption that the condition was fixed and irreversible.

The underlying concept was powerful: if the genetic mechanism could be influenced, function might be restored.

Cross emailed the researcher. He replied within hours.

What followed was not a single breakthrough, but a long-term commitment to building the infrastructure that rare diseases often lack. Angelman syndrome had historically attracted limited commercial investment and fragmented scientific attention.

Today, Cross is co-founder of the Foundation for Angelman Syndrome Therapeutics Australia (FAST Australia) and a driving force behind the Global Angelman Syndrome Registry.

Her impact has not come from awareness alone. It has come from recognising that rare disease is not simply a clinical challenge. It is a systems problem.

Seeing rare disease as a systems problem

From the outset, Cross identified two structural gaps. The first was data.

Published literature relied on small, fragmented cohorts with little longitudinal consistency. Symptom ranges were broad and often clinically unhelpful.

“A lot of the papers would say 20-80% of kids will experience this symptom or that issue,” Cross says. “And as a parent, I’m thinking, is that 20 or is it 80, because that’s really different?”

Her background in geographic information systems shaped her thinking. In that discipline, insight is built by identifying data gaps and constructing structured datasets capable of supporting or disproving hypotheses.

“I think you just need to keep building that data,” she says. “We need clinician data, but we also need what parents see as well, because it can be really different.”

Clinicians see snapshots during appointments. Parents observe daily reality. Rarely are those perspectives integrated at scale.

The result was the Global Angelman Syndrome Registry, now approaching its tenth year. Families contribute data directly through an online platform, generating caregiver-reported insights that complement clinical datasets.

The registry has supported peer-reviewed publications, informed trial design and provided aggregated data to industry partners. In rare disease, data is leverage. It strengthens grant applications, supports clinical trial recruitment and underpins future health technology assessment and reimbursement discussions.

Building infrastructure before it is funded

The second gap was care coordination.

Children with Angelman syndrome often require neurologists, gastroenterologists, developmental paediatricians and allied health professionals. In more common conditions, multidisciplinary care pathways are often embedded and funded. In rare disease, families frequently become de facto care coordinators.

Expertise is also thinly distributed. Most clinicians will encounter only a handful of cases across their careers. Standard clinical guidance may not fully apply.

“If you’ve got a condition that requires three or more disciplines,” Cross says, “then you should be thinking about ways to manage their care.”

FAST Australia now funds four specialist nurses across the country, known as AS Navigators. Predominantly supported by parent contributions, these nurses provide condition-specific guidance and connect families with experienced clinicians across state borders.

Cross recalls a recent seizure crisis involving a child in Queensland. The nurses identified clinicians in Sydney with deeper experience and facilitated rapid connection.

For families navigating urgent decisions, coordination can be decisive. Sometimes, Cross says, it is about “just knowing that someone is there,” to confirm whether hospital care is needed or to provide advice that differs from standard protocols.

The model is designed for scalability. A single specialist nurse could potentially support multiple rare conditions with overlapping needs, consolidating expertise within small specialist networks rather than perpetuating fragmented care.

The next step is rigorous impact measurement. If coordinated navigation reduces avoidable hospital presentations and improves management outcomes, the case for sustainable funding strengthens. The framework is intentionally transferable.

Global collaboration as a force multiplier

Rare diseases are numerically small within any single country. Progress depends on international coordination.

Soon after establishing FAST Australia, Cross joined the board of the US-based Foundation for Angelman Syndrome Therapeutics, gaining access to global networks of researchers, clinicians and industry partners.

Three companies are now progressing therapies designed to activate the silenced paternal gene, with phase three trials underway. Australia is the only country participating in all of them.

That level of engagement reflects years of groundwork in registry development, clinician collaboration and sustained international relationship-building.

When Cross began, the prospect of multiple concurrent late-stage trials seemed remote. It is now within reach.

Translating data into access

Regulatory approval, if achieved, will not be the final hurdle. Governments and insurers will require robust evidence of value before committing to reimbursement.

“There’s a lot of work going around that sort of health technology assessment,” Cross explains, pointing to the need to demonstrate measurable impact to policymakers and funders.

Registry data may play a pivotal role by quantifying disease burden, care utilisation and long-term outcomes. For rare disease communities, evidence is not abstract. It determines access.

Education, governance and communication remain ongoing priorities. Sustained registry participation depends on transparency about how data is used and how it informs clinical and funding decisions.

Applying lessons beyond Angelman syndrome

FAST Australia is now partnering with a technology company to upgrade its registry platform and create a framework that other rare disease groups can adopt. The software infrastructure may be offered freely, with governance and implementation support forming a sustainable advisory model.

“I think the work we’re doing is so translatable to different conditions and even common conditions,” Cross says.

Joint funding applications with related genetic conditions are also under consideration, creating critical mass across disorders that share molecular pathways or clinical features.

The ambition is clear: move from single-condition advocacy to scalable rare disease architecture.

The human cost of leadership

Rare disease advocacy is often powered by volunteer labour. Parents assume governance, fundraising and strategic responsibilities while managing complex care at home.

Over time, that load becomes heavy.

Cross acknowledges the emotional weight, particularly during life transitions such as children finishing school. Organisational resilience depends on leadership renewal and shared responsibility.

Recently, she attended a conference where a doctor asked informed questions about Angelman syndrome. After introducing herself, she learned his child had recently been diagnosed. He has since joined the board.

Succession, Cross recognises, is essential. Preventing burnout is as critical as securing funding.

A blueprint for healthcare leaders

For healthcare leaders and innovators, Cross’s work offers a practical lesson in systems reform. When a condition, service or sector is fragmented, progress does not begin with awareness alone. It begins with structure.

Angelman syndrome provides a case study in what that structural thinking looks like in practice.

After two decades, the condition now has:

• A global registry
• Coordinated clinical networks
• Active phase three trials
• International collaboration

“We’ve broken a lot of ground,” Cross says. “We’ve got our patient registry. We’ve got clinical trials. We’ve got clinics and nurses.”

This is due, in no small part, to Cross’s efforts. 

The strategy behind that progress offers a broader lesson for healthcare leaders: meaningful change is rarely accidental. It is built deliberately, through data, coordination and sustained collaboration.

Sources:

• Foundation for Angelman Syndrome Therapeutics Australia https://www.cureangelman.org.au/ 
• Global Angelman Syndrome Registry https://angelmanregistry.info/
• Foundation for Angelman Syndrome Therapeutics https://cureangelman.org/
• AS Navigators https://asnavigators.org.au/