Agenda (60 minutes)

Introduction: Welcome & Framing the Issue (5 minutes)

Moderator overview of MLD, the rationale for early detection, and the objectives of the session.

PART 1 – Parents’ Perspectives (10 minutes)

Speaker: Ally Wallace

Family diagnostic story
Communication needs when delivering a positive screen
Emotional and logistical challenges of sibling testing
Guidance for paediatric teams on supporting families

PART 2 – Expert Presentations (30 minutes)

• The Why and How of MLD Newborn Screening (15 minutes)

Speaker: Dr Erik Eklund, MD, PhD

Why MLD meets key criteria for NBS
Multi-tier screening and confirmation pathway
Timelines and decision points
How early treatment shapes clinical trajectories

• NBS Case Studies in Action: Norway’s Experience (15 minutes)

Speaker: Andreas Öberg, MSc, NBS Programme Specialist

Programme design, rollout, and infrastructure
Number of presymptomatic cases identified
Treatment access and early outcomes
Practical steps in post-screen referral

PART 3 – Panel Discussion & Audience Q&A (15 minutes)

Interactive discussion with all speakers on system gaps, communication challenges, sibling testing, and best practices for timely referral and family support.

PART 4 – Conclusion (5 minutes)

Summary of actionable takeaways and next steps for clinical teams.

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Learning Objectives

By the end of this webinar, participants will be able to:

Understand the rationale, steps, and timelines of MLD newborn screening, including biochemical and genetic confirmation workflows.
Communicate screen-positive results to families clearly and compassionately, setting expectations for next steps.
Coordinate timely confirmatory testing, referral, and treatment access for presymptomatic infants.
Navigate sibling testing, including logistics, consent, counselling, and psychosocial considerations.
Define team roles across laboratories, paediatrics, genetics, and counselling to standardise the post-screen pathway.

Metachromatic Leukodystrophy: Newborn Screening and Sibling Testing - Family and Expert Perspectives (MLDS5M1)