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James Smith is the co‑founder of the Foundation for Hao‑Fountain Syndrome, a global initiative born from his family’s own rare disease journey. When his daughter was diagnosed with Hao‑Fountain Syndrome, James transformed years of uncertainty into a mission: to connect families, accelerate research, and advocate for better access to care.
Because of his lived experience and the extensive research he has undertaken, James has become a trusted voice and recognized expert on Hao‑Fountain Syndrome and the broader rare disease landscape. Through his writing, podcasting, and advocacy, he helps families navigate the diagnostic odyssey, equips them with practical tools, and ensures their stories are heard by researchers, clinicians, and policymakers alike.
In this blog, James shares not only his personal story but also the universal challenges faced by rare disease families everywhere, the long diagnostic odyssey, the barriers to treatment, and the hope that comes from building community. His voice is both deeply personal and powerfully representative of the resilience that defines rare disease advocacy.
Over to James
When my daughter was born, I didn’t know the words Hao-Fountain Syndrome. I didn’t know that a single gene, USP7, could change the course of our family’s life. What I did know was that something wasn’t right, and that we were about to embark on what so many families in the rare disease community call the diagnostic odyssey.
That odyssey took years. Years of questions without answers. Years of specialists who shrugged their shoulders. Years of feeling like we were the only ones in the world living this story.
And then, finally, a name. Hao-Fountain Syndrome. A rare genetic condition so new that when we got the diagnosis, there were only a handful of families identified worldwide.
That moment was both a relief and a shock. Relief, because we finally had an explanation. Shock, because the explanation came with no roadmap, no treatment, and no clear sense of what the future would hold.
The Diagnostic Odyssey: A Universal Rare Disease Story
If you’ve lived through it, you know the diagnostic odyssey is not just a medical journey, it’s an emotional marathon. For us, it meant:
- Endless appointments with neurologists, geneticists, developmental pediatricians, and therapists.
- Tests that led nowhere, or worse, tests that hinted at terrifying possibilities before ruling them out.
- The constant feeling of being dismissed, as if we were overreacting parents rather than people who knew something was wrong.
This is not unique to Hao-Fountain Syndrome. It’s the story of rare disease families everywhere. On average, it takes three-five years to get a rare disease diagnosis in the United States. Seven years of uncertainty, frustration, and fear.
For families, those years are not just numbers. They are birthdays, school milestones, and moments of growth that pass under the shadow of unanswered questions.
From Isolation to Connection
The first thing I learned is that rare disease is never just about the science; it’s about the people. Once we found other families, everything changed. Suddenly, we weren’t alone. We were part of a community that understood the sleepless nights, the endless paperwork, the fear, and the hope.
That’s why we co-founded the Foundation for Hao-Fountain Syndrome. We wanted to make sure no family ever had to feel as isolated as we once did. Today, we connect families across continents, support research, and advocate for better access to care.
I’ve spoken with parents in Europe, Asia, and South America who share the same struggles we do. Different languages, different healthcare systems, but the same core challenges: delayed diagnosis, limited treatment options, and the need for awareness.
The Barriers We Face
Through my podcast and countless conversations with patients and caregivers, I’ve seen the same themes repeat across conditions:
Diagnosis Delays: Families wait years, sometimes decades, for answers.
Treatment Access: Even when therapies exist, they’re often out of reach due to cost or geography.
Awareness Gaps: Too many doctors have never heard of these conditions, leaving patients to educate the very people meant to help them.
These aren’t just “rare disease problems.” They’re systemic issues that affect millions of people worldwide.
Why I Keep Telling Stories
Stories are powerful. They cut through the jargon and the statistics. They remind us that behind every acronym and every gene mutation is a child, a parent, a family.
When I interview families for my podcast, I’m not just collecting anecdotes, I’m building a living archive of resilience. These stories help researchers understand the human impact of their work. They help policymakers see why access matters. And they help other families know they’re not alone.
I’ve spoken with parents who have mortgaged their homes to pay for treatments. With teenagers who have grown up explaining their own conditions to teachers and classmates. With siblings who have become advocates before they even hit high school.
Each story is different, but together they form a chorus that cannot be ignored.
The Role of Research
One of the most hopeful parts of this journey has been watching the research community rally around Hao-Fountain Syndrome.
When we started, there was almost nothing published about USP7. Today, there are labs studying it, researchers presenting findings at conferences, and a growing body of knowledge that gives us hope for the future.
But research doesn’t happen in a vacuum. It requires funding, collaboration, and, most importantly, patient involvement. Families are not just subjects of research; we are partners in it. We provide data, share experiences, and help shape the questions that scientists ask.
This partnership is one of the most exciting developments in rare disease advocacy. It’s not just about waiting for answers; it’s about helping to create them.
Policy and Access
Of course, research is only part of the equation. Even when treatments exist, they are often out of reach. The cost of rare disease therapies can be astronomical, and insurance coverage is inconsistent at best.
This is where policy advocacy comes in. There are organizations like:
- Every Life Foundation for Rare Diseases
- NORD (National Organization for Rare Disorders)
They are working to change the system, pushing for policies that make treatments more accessible and affordable.
As patient leaders, we have a role to play here too. By sharing our stories with lawmakers, we put a human face on the statistics. We remind them that behind every policy decision are families whose lives hang in the balance.
Building a Global Community
One of the unexpected gifts of rare disease advocacy has been the chance to connect with people around the world. I’ve spoken with families in India, Brazil, and South Africa who are fighting the same battles we are.
These conversations remind me that while healthcare systems differ, the core challenges are universal. And they also remind me that solutions can come from anywhere. A breakthrough in one country can ripple across the globe, offering hope to families everywhere.
That’s why building a global community is so important. By sharing knowledge, resources, and strategies, we can accelerate progress for everyone.
Key takeaways for patients and caregivers living with Hao-Fountain syndrome
Diagnosis clarity:
Hao-Fountain syndrome (HAFOUS) is caused by pathogenic variants in the USP7 gene. It is a deubiquitinase involved in cellular homeostasis and synapse-related pathways. Knowing the gene helps anchor care, research participation, and community connection.
Expect variability:
There are recent cohort studies (including 32 newly reported patients). They show a spectrum of neurodevelopmental features and growth patterns. Differences in severity are common. A proposed severity score helps frame expectations and care planning.
Early, consistent therapies matter:
Speech and language support, developmental therapies, and behavioral strategies can make meaningful differences.
Track and share data:
Maintaining records (genetic reports, developmental assessments, therapy progress) strengthens clinical care and makes you a valuable partner in research.
Hope is grounded in science:
USP7’s role in synapse morphogenesis and neuronal connectivity is now better understood, building a foundation for future targeted approaches
Scientific outlook and what to watch
Mechanistic advances (USP7 and synapses):
New work shows USP7 influences synapse development and disease-relevant behaviors. The pathways independent of p53. It interacts with splicing factors like Ppil4, key clues for future targeted strategies.
Phenotype and severity mapping:
The largest HAFOUS cohorts to date expand the clinical spectrum.
Functional variant research:
Emerging preprints are characterizing how specific USP7 variants alter enzyme activity. It informs which molecular pathways might be druggable down the line. While promising, these findings are preliminary until peer reviewed.
Case-based recognition:
Ongoing case reports improve clinician awareness. The differential diagnosis, reducing misdiagnosis and guiding appropriate genetic testing earlier in life.
No approved disease-modifying treatments exist yet for HAFOUS. The near-term breakthroughs are most likely in three areas:
- Better natural history data to define outcomes
- Mechanistic targets tied to USP7’s synaptic roles
- Tool compounds or modulators explored in preclinical settings.
Timelines are uncertain. But the pace of publications has clearly increased, which is encouraging for families watching the field grow.
Practical actions to stay ready for breakthroughs
Subscribe to updates:
Follow journals and preprint servers where HAFOUS and USP7 work appears; ask your clinicians to flag relevant findings during visits.
Consent for recontact:
If your genetic testing lab or registry offers recontact, opt in so you’re notified when variant interpretations or study opportunities evolve.
Engage with researchers:
Attend webinars or family-researcher meetups; share de-identified data when comfortable. Patient-partnered projects often shape the questions scientists pursue.
Document baseline:
Keep a clear record of current function (speech, motor, behavior). If early interventional studies emerge, baseline data helps you evaluate changes objectively
Looking Ahead
I don’t pretend to have all the answers. But I do know this: every time we share our stories, we move the needle. We raise awareness. We push for change. We make it just a little easier for the next family who begins their own odyssey.
At Ordinarily Rare, I hope to share not just my family’s journey, but the collective wisdom of a community that refuses to be defined by what’s missing. Instead, we define ourselves by what we build, together.
Because in rare disease, progress doesn’t come in leaps. It comes in small, steady steps. And those steps make us stronger every day.
These key points are important:
- Build your care team
- Create a living care plan
- Join registries and studies
- Prepare for school transitions
- Track measurable outcomes
- Plan for policy and access
DISCLAIMER
This blog reflects personal experiences and does not serve as medical advice. Always consult qualified professionals for diagnosis or treatment.