MEF2Cast29 Elo 2025

Episode 21: Personal Journeys, Professional Breakthroughs with Kristina Johnson

In this episode, we sit down with Kristina Johnson, a professor at Northeastern University and mother to her son Felix, who was diagnosed with MEF2C haploinsufficiency syndrome at just nine months old. Kristina shares her family’s journey — from the early signs of developmental delays that were initially dismissed, to the long and isolating road toward diagnosis, to the ways her personal and professional paths converged as she transitioned from physics to a career in child development and communication sciences.

The conversation highlights the importance of parental advocacy, the emotional realities of raising a child with complex needs, and the urgent need for better research methodologies to understand developmental trajectories. Kristina introduces the ROSCO project, a groundbreaking effort to reframe how communication is measured in children with neurodevelopmental disorders, centering caregiver insights, vocalizations, and new technologies like AI as powerful tools for growth.

Subjects covered include:

Felix’s diagnosis at nine months and the challenges of early detection
The role of parental intuition in navigating healthcare systems
Isolation and resilience in the journey to diagnosis
The transition from physics to communication sciences research
The ROSCO project’s new framework for assessing communication
Why caregiver input is vital in shaping communication metrics
Emerging technologies (including AI) in communication research
Understanding vocalizations as a new language
Community collaboration and the challenges of study recruitment
Empowering children through agency, tools, and effective research

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Jaksot(46)

Core Conversations: Cody and Shawnacy Bruce

In this Core Conversation, we revisit our conversation with Shawnacy and Cody Bruce, parents navigating the beautifully complex world of raising two daughters—one of whom, Boston, has developmental de...

24 Huhti 1h 24min

Episode 39: Childhood Apraxia of Speech and IEP Advocacy | Jordan LeVan

In this episode of MEF2Cast, we sit down with Jordan LeVan to explore his powerful journey living with childhood apraxia of speech (CAS). Jordan shares what it was like growing up with a motor plannin...

27 Maalis 50min

Episode 38: Finding the Path with Audra and Phil Kimmett

In this episode of MEF2Cast, we sit down with Audra and Phil Kimmett to talk about their journey raising their son William, who was diagnosed with MEF2C haploinsufficiency syndrome (MCHS). Through a c...

13 Maalis 1h 16min

Episode 37: Therapy, Parenthood, and Family with Julia Irwin

In this episode of the MEF2Cast, we sit down with Julia Irwin, mom to Elsie, to share their family’s journey with MEF2C haploinsufficiency syndrome. Julia reflects on Elsie’s early birth and low birth...

27 Helmi 1h 4min

Core Conversations: Dr Christopher Cowan

In this episode of our Core Conversations series, we explore the critical role of MEF2C, a transcription factor that shapes early brain development and influences a wide range of neurological function...

6 Helmi 47min

Core Conversations- Jennifer and Keith Aguirre

Core Conversations are revisited episodes from our archives that still stick with us and feel especially relevant, offering meaningful insight for families in the MEF2C community.In this Core Conversa...

30 Tammi 3h 30min

Episode 36: Navigating MCHS with Helle and Andreas

In this episode of MEF2Cast, we sit down with Helle and Andreas to share their family’s journey navigating life with MEF2C haploinsufficiency syndrome (MCHS). Helle reflects on the early signs that so...

23 Tammi 1h 16min

Episode 35: Understanding Leucovorin with Dr. Elizabeth Laughlin, PharmD

In this episode, we sit down with Dr. Elizabeth Laughlin, PharmD, to explore the use of Leucovorin, a prescription form of folate, and its emerging role in supporting children with certain neurologica...

16 Tammi 37min