2006 Teleconference:

Background on the Teleconferences: In September 2006, the Joshua Frase Foundation (JFF) sponsored what is believed to be the first-ever, free, open-access teleconferences (live conferences by phone) about Myotubular Myopathy (MTM) and other forms of Centronuclear Myopathy (CNM). Families affected by MTM/CNM had the opportunity to hear directly from some of the world’s leading experts on MTM/CNM and ask questions directly of the speakers.

Sarah Foye in New Jersey, USA, organized the teleconferences.  The Joshua Frase Foundation paid for the fees for the domestic toll-free phone call.  We are grateful to the experts, who freely gave their time to speak with us for hours on the teleconferences.

The intention of the series was to:
1) Communicate: provide a structure for families to communicate and hear each other’s voices.
2) Educate: spread information about current research, genetic issues and medical treatment.
3) Unite: to bring together of families around the world.  This unity creates a synergy for making a difference that is not available as individual families or organizations. 

We held three phone conferences over a 5-week period.  With dozens of callers on the line live at one time; this may have been the largest number of MTM/CNM families ever conversing together in real time.  Families called from multiple countries, including the USA, UK and Australia. 

The speakers included:

Dr. Alan Beggs, PhD spoke on current issues in myotubular/centronuclear myopathy research.  Dr. Beggs is an Associate Professor of Pediatrics at Harvard Medical School, where he runs a world-renowned research lab in the Genetics Division at Children’s Hospital Boston.   Dr. Beggs is one of the USA’s top researchers on MTM/CNM.  He leads a group of physicians and scientists dedicated to understanding and curing MTM/CNM and other congenital myopathies.

Elizabeth Taylor, M.S., Genetic Counselor and Research Study Coordinator at Children’s Hospital Boston, spoke on the topic of “The genetics of centronuclear/myotubular myopathy: what we know and what we think we know.”
Click to Download Summary of Teleconference by Elizabeth Taylor, M.S.

 Dr. John Bach, MD, spoke on prevention of medical complications in CNM/MTM with a focus on respiratory management.  Dr. Bach is based at New Jersey Medical School, where he is a Professor of Physical Medicine and Rehabilitation (PM&R), Vice-Chairman of PM&R, Professor of Neurosciences, Director of Research and Associate Medical Director of the Department of PM&R, Co-Director of the MDA Clinic at University Hospital, and Medical Director of the Center for Noninvasive Mechanical Ventilation Alternatives and Pulmonary Rehabilitation. Dr. Bach is internationally recognized for his ground-breaking work in noninvasive mechanical ventilation.

Disclaimer: These teleconferences (and these written summaries) are NOT intended as medical advice and are NOT intended to be in any way a substitute for appropriate medical care from a trained health professional. Also, please note that this summary document was compiled and typed up by volunteers (MTM/CNM families) and while we believe the document to be accurate, we certainly request that interested parties should not consider this document as the final word on these MTM/CNM topics, but rather you can consider it a starting point for further discussion with you treating physicians, interested researchers, etc.