When Rare Becomes Real
A presentation by Jonathan Bracey, EVP at Tanner Pharma Group and Founder of the MVA Society, delivered at the Global Clinical Supplies Group European Knowledge Forum.
At a recent GCSG presentation, Bracey shared the deeply personal story of his son George’s diagnosis with Mosaic Variegated Aneuploidy (MVA) syndrome and rhabdomyosarcoma — a journey that illuminates profound gaps in our healthcare system for ultra-rare diseases.
George’s Journey: When Every Protocol Fails
In mid-June 2023, Bracey’s only child began six weeks of investigations at St. Mary’s Hospital and received a devastating diagnosis: rhabdomyosarcoma, a rare aggressive cancer. Whole genome sequencing revealed an even rarer underlying condition: Mosaic Variegated Aneuploidy (MVA) syndrome.
What followed was an exhausting journey across three London hospitals: nine rounds of chemotherapy at Great Ormond Street Hospital, international consultation between Kings College Hospital and Bicetre Hospital in Paris, and access to groundbreaking Nanoknife therapy—not yet standard pediatric care.
Despite a major UK clinical trial for childhood rhabdomyosarcoma operating during George’s treatment, he couldn’t participate due to timing, risk categorization, and weight requirements his 6-kilogram frame couldn’t meet.
Bracey refused to accept limited options. Drawing on his pharmaceutical industry expertise, he orchestrated an international multidisciplinary team and raised £100,000 for the supporting hospitals and charities. On May 2nd, 2024—George’s birthday—he rang the bell as the youngest person ever treated with Nanoknife.
But while George’s cancer is in remission, his MVA syndrome—and the profound questions it raised—remained.
Understanding Ultra-Rare
Approximately 7,000 rare diseases affect 300 million people worldwide, yet 95% have no approved treatment. MVA exists in a category beyond rare—affecting approximately 1 in 5 million people, with fewer than 50 documented cases globally.
MVA is a condition where approximately 15% of George’s cells don’t have the correct number of chromosomes. These abnormal cells distribute randomly throughout the body, creating significant cancer risk, developmental challenges, and unpredictable health complications.
Despite Bracey’s two decades in pharmaceutical access, he encountered seemingly insurmountable obstacles:
- MVA isn’t routinely tested for and requires specialized genome sequencing
- Most clinicians have never encountered it
- No established treatment pathways exist
- Virtually no research, patient organizations, or aligned medical community
As Bracey put it, families are left to “literally just keep your fingers crossed.” For a father watching his son knowing chromosomal instability lurks in every cell, this wasn’t acceptable.
Building Infrastructure
In November 2024, Bracey established the MVA Society with an experienced board including specialists from Kings College Hospital, GOSH, St. Mary’s Hospital, and pharmaceutical access experts from Tanner Pharma Group.
The Society’s three-pronged strategy:
1. Building Global Community – With only 50 documented patients worldwide, the Society launched global outreach targeting cancer-genetic centers and completed audits of UK genetics databases. An Ipsen Foundation-funded documentary is spreading awareness internationally, with their website now receiving approximately 1,000 hits monthly.
2. Funding Research – The £250,000 target will fund a dedicated researcher for two years at GOSH. Through events including a Tanner Pharma-sponsored golf day (£20,000), they’ve raised approximately £115,000 toward a £200,000 year-end goal.
3. Developing Treatment Strategies – The Society is simultaneously pursuing drug repurposing studies in London, NAD+ research at Creighton University, and RNA sequencing in Barcelona. This preliminary data will enable larger grant applications and launch a fully funded PhD program.
When Access Becomes Imperative
Bracey’s dual role as Tanner Pharma EVP and MVA Society founder represents the intersection of pharmaceutical access expertise and desperate clinical need.
George’s treatment required coordination across three hospitals, international specialist consultation, access to cutting-edge technology, and navigation of complex funding pathways. Without Bracey’s pharmaceutical access expertise and industry connections, George’s outcome might have been very different.
Tanner Pharma Group’s mission—”improving patient lives by enabling access to medicines”—takes on profound meaning in ultra-rare disease contexts. While commercial development faces significant barriers for conditions affecting so few patients, access to existing therapies, specialized clinical supplies, and international treatment protocols becomes the bridge between diagnosis and hope.
The MVA Society’s drug repurposing strategy, identifying existing approved medications that might benefit patients, leverages Tanner Pharma’s core competency in global pharmaceutical access. As the Society pursues international collaborations spanning London, Omaha, and Barcelona, the complexity of cross-border clinical supplies and regulatory navigation—precisely Tanner Pharma’s specialty—becomes self-evident.
Science Isn’t the Barrier
Bracey concluded with a powerful example: Julia Vitarello’s daughter Mila received personalized treatment for Batten’s disease—developed, tested, approved, and administered within one year.
“Science is no longer a barrier to most rare diseases,” Bracey emphasized. “It is now all about the will.”
With 95% of rare diseases still lacking approved treatments, patient advocacy and determined parents remain the driving force for change. This will requires collaboration: patient advocates bringing urgency, clinicians providing medical expertise, researchers delivering innovation, and pharmaceutical companies ensuring that wherever treatments exist or emerge, patients can access them.
A Call to Action
Bracey’s ask was straightforward: connect companies working in ultra-rare diseases, help spread awareness, consider volunteer support, and most importantly, collaborate.
As Bracey reminded his audience: “Pain is where purpose lives.”
To learn more about the MVA Society or support their research, visit www.mvasociety.org or contact Jonathan Bracey at jb@mvasociety.org.
