Rare diseases are often described in numbers. Prevalence rates. Case counts. Years to diagnosis. But for families living with rare disease, those numbers are only part of the story. What truly defines the experience is the day-to-day. It’s the sleepless nights, endless doctors’ appointments, and the constant worry that comes with not knowing what tomorrow will bring for their child. For many families, rare disease is so much more than moments of crisis. It’s the long journey that touches every part of life.
For Rare Disease Month, we’re sharing stories across the globe that connect the data to the lives of the families at the center of it. Across these stories is a shared insight rooted in everyday life. When rare disease genomics starts earlier and captures the full complexity of the genome, families can move forward with greater clarity that can shape care and shorten diagnostic journeys that often stretch on for years. This is why there is growing momentum toward long-read whole genome sequencing as a first-tier approach for rare disease, changing what is possible from the very beginning, potentially bypassing years of uncertainty.
A family in Thailand finds an explanation through rare disease genomics
Our first story starts in Thailand, where we meet Patpong Kaewsanan and Parichat Sangngam, who lost their first child to an undiagnosed illness around his first birthday. When their third child, Khunthhong, later began showing similar signs, the family returned to the hospital carrying both grief and a deep fear of history repeating itself.
At Chulalongkorn Hospital in Bangkok, whole genome sequencing led to a finding of Lysinuric Protein Intolerance (LPI), a rare inherited metabolic disorder caused by mutations in the SLC7A7 gene that disrupt amino acid absorption. It was the hospital’s first confirmed case.
With this finding came a clear direction for treatment and monitoring, and significant improvement in Khunthong’s condition and the family’s outlook. As his mother Parichat shared,
“Smiles have returned, and laughter can be heard in the family. This has brought much more happiness. From once being filled with sorrow, sadness, and tears, it has turned into joy that Khunthong has this chance at life.”
How LIFE-Seq expands access to lifelong precision health in Thailand with HiFi sequencing
Khunthong’s care team at Chulalongkorn Hospital recognizes that his family is not alone in this experience. An estimated three million people in Thailand live with rare diseases, yet fewer than 20,000 are receiving care. Many children wait five years or more for a correct diagnosis, often missing critical opportunities for early treatment.
Confronting this gap firsthand helped drive the creation of LIFE-Seq, Asia’s first clinical genomics program for precision health. Enabled by PacBio technology and service provider DKSH, Chulalongkorn University plans to sequence over 2,000 newborn samples this year alone, generating comprehensive genomic insight starting at birth, with the goal of supporting lifelong care. The program aims to enable earlier detection of genetic conditions, improve diagnostic accuracy, and support health before symptoms appear.
As Dr. Vorasuk Shotelersuk, one of the leaders behind LIFE-Seq, explains,
“Once-unknown diseases treated only for the symptoms have now become conditions diagnosable at the molecular level and treatable at the root cause. Employing the most advanced technologies with LIFE-Seq, Thai children will have the opportunity to know their complete genetic sequence, giving them the chance to enjoy the best possible health and become the nation’s strength for the future.”
How community drives rare disease research in Sweden
That same emphasis on the community fight against rare disease continues into our next story. This one takes place in Sweden, where the “Together for the Future: Family + Care + Research” event was recently hosted by the Karolinska Institute.
This event brought together families affected by pediatric rheumatic disease, a group of chronic autoimmune and inflammatory conditions in children that can cause pain, swelling, and stiffness in joints, muscles, and organs. The causes of these conditions are complex, but specific genetic variations are known to significantly increase susceptibility.
This event was an opportunity for families to come together around shared experiences and questions and to foster connection through community. Families spent the day learning how research powered by PacBio HiFi sequencing is helping local scientists study these diseases, and stepped directly into the science themselves by isolating DNA firsthand. The experience created space to better understand both the research and each other, which is often a crucial part of navigating daily life with these conditions.
Assistant Professor and event organizer Lina Marcela Diaz Gallo captured the purpose of the gathering:
“Pediatric rheumatology still has large knowledge gaps, and we know further data sets are needed to support ongoing research. As a rare patient group, families can often feel isolated. This event brought families together to connect and feel less alone, supported by our HiFi-based research.”
A People-First path on the fight against rare disease
From Thailand to Sweden, it’s clear that rare disease care is strongest when people come first, when care teams have clearer answers, and when genomics is used to change real outcomes.
As Rare Disease Month continues, we’ll be sharing more perspectives from those living with rare disease and those working at the front lines of care and research. The path forward is not simple, but it is hopeful. With collaboration, earlier access to comprehensive genomic insights, and a focus on people first, we can move toward a future where fewer families are left waiting for answers.
Learn more about the impact of HiFi sequencing on rare disease research at pacb.com/rare-disease.