As February comes to a close, we approach Rare Disease Day on February 28 and reflect on the purpose behind our work in rare disease research. At PacBio, our mission is rooted in innovation, advancing rare disease genomics to uncover answers. But beyond the technology, it is the individuals and families navigating rare diseases who inspire our determination and push us to do more.
This passion has helped us create People First, a campaign dedicated to amplifying the voices of those directly impacted. Through intimate video interviews, families have shared their journeys, resilience, and determination to find answers.
As we close out Rare Disease Month, our final blog revisits their stories as a powerful reminder of why we strive towards advancing long read sequencing technology to address rare disease.
Laura and Dave’s search for explanations in Nijmegen, Netherlands
The first of our People First stories features Laura and Dave who live with their three sons —Thijs, Siem, and Abel, who all have an undiagnosed disease — in Nijmegen, Netherlands.
Like many families, Laura and Dave’s rare disease journey began with uncertainty. After complicated births, they were told their sons, Thijs and Siem, might experience developmental delays. As these developmental issues mounted, so did their questions— were these delays a result of their complicated births, or could they be caused by an underlying condition? It wasn’t until Thijs began losing words from his speech and could no longer write his name that they realized there had to be another explanation.
While expecting their third son, Abel, Laura and Dave joined a research study led by Dr. Alex Hoischen at Radboud University Medical Center (Radboudumc) in search of a potential genetic cause. Over the years, all three boys have undergone genome sequencing, bringing hope that the missing puzzle pieces will one day come together. “Not knowing what is wrong with our children is frustrating,” Laura shared. “For us it’s important to know, but I think it is more important for the children to know. It’s their life – they have to go through it, and it’s important for them to know why they are struggling.”
The Undiagnosed Hackathon and the power of collaboration
In their ongoing search for answers, Laura and Dave took part in the Undiagnosed Hackathon hosted by Radboudumc last June, an initiative led by the Wilhelm Foundation. The event brought together over 120 experts from 28 countries for an intense 48-hour sprint to analyze the genomes of 42 unexplained cases.
The collaboration, combined with access to advanced genomic data, led to remarkable discoveries. By the end of the Hackathon, potential diagnoses had been identified for 10 families—some of whom had spent years searching for answers.
A key factor in some breakthroughs was the exceptional accuracy and read lengths provided by PacBio HiFi long-read genomes. Dr. Lisenka Vissers, Professor of Translational Genomics at Radboudumc emphasized the impact of this technology, stating, “Unless you use long-reads, there is no test that captures nearly all medically relevant variants. Only with this technique have we gained the way to look at the human genome.”
The progress made in just two days offers hope to families like Laura and Dave’s, who are still waiting for answers. With more time and continued collaboration, new discoveries will continue to emerge.
Casey McPherson and his daughter Rose: From data to determination
For Casey McPherson, Laura and Dave’s story was a familiar one. After his youngest daughter, Rose, was born, early concerns over missed milestones turned into something far more alarming when she lost the ability to speak. As her condition worsened, seizures, choking episodes, and overwhelming sensory challenges reshaped every aspect of her care.
After a long search for answers, genome sequencing finally revealed that Rose had a rare genetic mutation causing her condition. For Casey, the finding was both heartbreaking and a call to action. Determined to find a treatment, he immersed himself in the world of genomics, mobilizing a foundation and AlphaRose Therapeutics (formerly Chrysalis Genetics) to push forward. This search led Casey’s growing team to PacBio HiFi sequencing and a search for antisense oligonucleotides (ASOs) therapy, a promising avenue for rare genetic diseases like Rose’s.
“HiFi sequencing has been fundamental to discovering a drug for Rose,” Casey explains. “It gives us the roadmap to design the most impactful treatment possible.” With the data quality and comprehensive insight provided only by PacBio, Casey and his team have embarked on identifying the best strategy for developing an ASO tailored to Rose’s needs.
Building community through the Firefly Fund
Like Casey, Pam Andrews and her husband, Chris, turned their grief into action when faced with the reality of a rare disease diagnosis. Their journey began when their eldest daughter, Belle, started showing unexplained symptoms at the age of three—frequent falls, an enlarged spleen, and low platelet counts. Despite seeing countless specialists, the symptoms did not initially add up to a clear explanation, prolonging their uncertainty. Eventually, both Belle and her younger sister Abby were diagnosed with Niemann-Pick disease type C (NPC), a rare and progressive neurovisceral condition.
Refusing to accept a future without options, Pam and Chris founded the Firefly Fund in 2016 to accelerate research into NPC and other rare neurodegenerative diseases. Their efforts contributed to the creation of the Center for Rare Disease at the University of Texas Dell Medical School, driving advancements in therapies and the search for cures.
Through their advocacy, the Andrews family has not only fought for their own children but also provided hope for countless others by connecting families with the care and community that they so desperately need. Pam emphasizes the power of advocacy for families affected by rare disease:
“There is no reason that a family should be on a diagnostic odyssey anymore. Don’t be afraid to advocate for yourself, push boundaries, and demand answers because the technology is there to give answers.”
Thriving in the face of a rare disease
After his daughter Riley was diagnosed with CPT2 deficiency, a rare metabolic disorder that impairs the body’s ability to process certain fats for energy, George found strength and support in the Firefly Fund.
Riley’s journey began with unexplained pain and fatigue, leading to rounds of inconclusive tests. George recalls the frustration of “not understanding what was behind it, jumping from doctor to doctor, and not knowing which specialist should be overseeing her care.”
Through the Firefly Fund, the family learned about the power of HiFi long-read sequencing. Riley’s genome, along with her parents’, was sequenced, revealing that each parent had contributed a gene variant linked to CPT2 deficiency. This key insight ultimately led to a definitive diagnosis.
With a diagnosis in hand, Riley’s care shifted from guesswork to a controlled treatment plan. “We really didn’t know what genomics testing was, but once we got the answers and understood the process, we felt relieved because we knew what the cause was and what the plan of action was. We wish we had known about PacBio when she was seven years old,” George acknowledged. “But now, she’s thriving. She’s doing well and still able to be doing athletics and softball.”
Putting People First
Pam attests to the power of early information through the mission of the Firefly Fund:
“My hope with families having access to information about the health status of their child is that every child would be able to get a therapy for the condition that they’re facing. The goal really is early diagnosis and intervention so that we can have more people like Abby and like Riley who have such good health outcomes from knowing early and treating early.”
These stories personify the People First campaign, putting faces and names to the call for advancements in rare disease genomics. More than just a series of interviews, People First is a testament to the resilience of families, the dedication of scientists, and the transformative power of genomic technology.
Rare Disease Day is a time to honor the lives and journeys of those impacted by rare diseases, but our commitment extends far beyond a single day. We remain dedicated to advancing sequencing solutions that deliver answers faster, open pathways to new treatments, and transform lives.
These stories are a powerful reminder of why we must keep pushing forward—turning uncertainty into clarity and hope for families still searching for answers.
Learn more about how HiFi sequencing is playing a part pacb.com/rare-disease.