This November, Sophie Thomas (Head of Patient Services and Clinical Liaisons) attended the Newborn Screening Summit & 6th APAC Educational Forum for Families and Caregivers on MPS in Taiwan. She reflects on the valuable presentations and discussions she joined and shares a glimpse of a bustling country rich with culture and heritage.
Day 1
The discussions centred on the transformative role of newborn screening (NBS) in improving outcomes for patients with mucopolysaccharidoses (MPS) and other lysosomal storage conditions (LSDs).
The first day of the Taiwan NBS Summit was a powerful reminder of what collaboration and innovation can achieve in the fight against rare diseases.
Key themes
Early Detection Saves Lives:Â Comprehensive NBS programs enable timely diagnosis and intervention, dramatically improving quality of life.
Technology Driving Change:Â Advances in diagnostic tools and integration into national health systems are setting new standards for care.
Collaboration is Key:Â Partnerships between clinicians, policymakers, and patient advocacy groups ensure equitable access and sustainable programs.
Learning from Taiwan: Taiwan’s success in implementing robust NBS programs offers a blueprint for other countries, including the UK, to follow.
Take-home message
Hope is not just a word, it’s a strategy.
By learning from Taiwan’s experience, the UK can strengthen its approach to NBS and deliver better futures for patients and families affected by rare diseases.
A heartfelt thank you to the Taiwan MPS Society for inviting me to this insightful meeting. It’s full of hope and a powerful reminder of what’s possible when we work together.
Day 2
We explored the power of patient partnerships and the future of health data sharing. Patient communities play a vital role in bridging families and care teams supporting, advocating and connecting from the day of diagnosis. As Professor Ed Wraith said:
We treat patients, not lab results.
We also learned how collaborative registries and AI can harmonize data, enabling real-time, secure, patient-controlled sharing. In the afternoon, we toured the newborn screening lab, where each machine had a packet of Green Jinshun (sweet coconut flavoured crisps) placed on top to ensure it behaves and does not go wrong. We received one too, to place on our computers.
In the evening, we gathered for a welcome reception with families, followed by a visit to the bustling night market, sampling street food and exploring the vibrant market stalls.
Day 3
From screening to treatment, we saw how early diagnosis opens doors to life-changing therapies. A screening pilot for MPS IIIB demonstrated how biomarkers can identify subgroups and guide care.
Inspiring family stories reminded us why early detection matters.
We explored the journey from the Dark Age of supportive care to today’s Golden Age of targeted treatments, including an exciting pipeline of gene therapy trials.
The afternoon was an afternoon of heritage, culture and healing with different countries being invited to share resources and things that reflected their culture and offering families opportunities to meet with clinical experts and take time to pamper and care for themselves.
The evening was a magnificent gala dinner full of entertainment, a banquet of amazing food, dancing, recognition and awards. It was great to see Dr Paul Harmatz receive a lifetime award for all his care and support to patients worldwide.
Day 4
The final sessions addressed key clinical needs in orthopaedics, ophthalmology and neurology closing with a strong message:
Every breakthrough starts with a diagnosis.
Beyond the science, Taiwan’s hospitality was unforgettable: hotpot lunches, a vibrant night market, cultural sharing, origami workshops and a spectacular gala dinner with dancing awards.
Taiwan, I have had an amazing time. Thank you Virgina and Julie for making me feel so welcome and for showing us all what a great country Taiwan is.
