National MPS Society: Our Voices

The Journey of a Biochemical Genetic Fellow with Mary Kate LoPiccolo


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  • 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.
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National MPS Society: Our VoicesBy National MPS Society

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