The official MitoAction podcast is a monthly call often with physicians who are experts on mitochondrial disease. Mitochondrial disease occurs when the mitochondria(the powerhouse of a cell) are unable to effectively generate energy during food metabolism. Approximately one in 4000 adults and children have mitochondrial disease ("Mito"). MitoAction is a non-profit organization dedicated to support, education and advocacy for the mitochondrial disease patient community.
http://www.mitoaction.org/audio-podcast
Gesamtlänge aller Episoden: 6 days 19 hours 18 minutes
Molecular diagnostic testing for mitochondrial disorders
Dr. Adams, Medical Director of the Goryeb Children’s Hospital Genetics and Metabolism Division in addition to the Personalized Genomic Medicine Program at Atlantic Health System in Morristown, NJ, will: Explore gene testing and discuss the rationale for using it as first-line testing.Review traditional diagnostic pathways.Discuss newer testing that has become available in recent years.Review new approaches to attempt to shorten time to diagnosis and increase precision.
Medical Homes
Topics include:The importance of a medical home for a mitochondrial disease patient.Definition of a medical home.How to establish a medical home.Why a medical home is an essential component of good patient advocacy.Tips on maintaining a healthy medical home relationship.Ms. Wees will describe theses issues primarily from a pediatric perspective, but she will give adult examples as well. Ms. Wees is a patient advocate with Empowered Medical Advocacy...
Extended School Year and Summer Camp Planning with Annette Hines, Esq.
Summertime is a time of changed routines for many Mito families. Camp programs, such as those supported by the Matthew Harty Camper Fund, provide special opportunities for children with mitochondrial disease. Mitochondrial disease patients often qualify for and benefit from extended school year services through local school systems as well...
Mitochondrial Medicine Society update 2016
Dr. Amy Goldstein provides an update on the Mitochondrial Medicine Society.Areas of discussion include: Transplantation in Mito patientsStroke protocol for MELASStandards of care for Mito patientsCenters of Excellence and the need for community involvement/input
Incapacity Planning and Guardianship
As patients or caregivers, it is frightening to think about what would happen if we could not advocate for ourselves. Fortunately, there are legal documents that can be used to communicate our wishes under such circumstances. This type of legal preparation is called incapacity planning and guardianship.
NORD Public Policy Team
Please join MitoAction this month for a conversation with the public policy team for the National Organization for Rare Disorders (NORD).
Fatty Acid Oxidation Disorders
Areas of discussion include: * Do patients with mitochondrial defects also have the potential to have fatty acid oxidation defects? * How do disorders of metabolism such as FAOD and mitochondrial disease impact the body's ability to grow, develop and function? * What is the current focus in research for understanding and treating FAODs?
Diet, Dysmotility, and Tube Feeding
Many children and adults with mitochondrial disease experience significant gastrointestinal or digestive issues as part of their daily disease challenges. When considering the pros and cons of a feeding tube and struggling to identify the best diet for dysmotility, many parents, patients and families are confused by all of the possibilities.
Mitochondrial myopathy with Dr. Bruce Cohen
Join MitoAction and Dr. Bruch Cohen as we discuss Mitochondrial myopathy.