Welcome to another enlightening episode of Demystifying Genetics, hosted by Matt Burgess. In this episode, we dive deep into the world of Charcot-Marie-Tooth disease (CMT) with Dr. Peter Critchley, who himself is affected by this genetic condition. The conversation uncovers the nuances of CMT, focusing on CMT1A - the specific gene in Peter's family.
Peter shares insights into how this hereditary peripheral neuropathy affects various aspects of life, from physical challenges to societal misconceptions. The episode sheds light on his personal experiences, from childhood nerve conduction tests to day-to-day living with the condition.
Listeners will also learn about the impactful work being done with CMT Aussie Kids, a program that connects children with CMT across Australia, providing support and fostering friendships. This episode offers a profound understanding of how individuals and families navigate life with CMT and underscores the importance of awareness and support for people living with rare genetic diseases.