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

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.

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.