The Journey of a Biochemical Genetic Fellow with Mary Kate LoPiccolo

National MPS Society: Our Voices

• The focus of the second season: Unmet needs and areas requiring more support in the MPS and ML community
• Goal: Explore resources, provide guidance, and start conversations about meeting these needs
• Guest: Dr. Mary Kate LoPiccolo, Medical Biochemical Genetics Fellow.
• Discussion on the lack of specialized genetic doctors and researchers in regional healthcare networks and the challenges of replacing retiring or relocating specialists
• Dr. Mary Kate's educational path: Four years of medical school, followed by specialization in pediatrics, then two years of medical genetics training, and one year of biochemical, genetic-specific training
• Biochemical genetics: Deals with genetic disorders affecting metabolism and biochemistry, such as MPS and ML
• Dr. Mary Kate's interest in rare diseases and the experience that led her to biochemical genetics
• Limited emphasis on biochemical genetics during medical school
• Dr. Mary Kate's first patient encounter in the pediatric genetics clinic, working with a family transitioning care for a child with severe MPS II
• Challenges faced by the family in accessing services and support in a rural area
• Role of fellows in patient care, working under the supervision of attending physicians
• Importance of open communication between families and healthcare professionals
• Learning to deliver difficult news with empathy and gauging family expectations
• Emphasis on being straightforward and honest with families, even when delivering challenging news
• Insights into the field of biochemical genetics, the journey to becoming a specialist, and the dedication required to provide optimal care and support to patients and families.