MitoAction Expert Series

Tools for Testing Mitochondrial Disorders: The Latest Advances in Genetics and Genomics Guest speaker Dr. Richard Boles from Children's Hospital Los Angeles and Courtagen Life Sciences, Inc. to discuss: What is genomic sequencing and how does it change testing for mitochondrial disorders? Is NextGen testing appropriate for all people with suspected mitochondrial disease? How can DNA sequencing cha...

Dr. Richard Frye, MD PhD, Director of Autism Research and Associate Professor of Pediatrics at Arkansas Children's Hospital to discuss: Evidence for Mitochondrial Dysfunction in Autism Spectrum Disorder Biomarkers for mitochondrial dysfunction Importance of cerebral folate deficiency/insufficiency and the folate receptor autoantibody How cerebral folate deficiency/insufficiency is diagnosed and tr...

Dr. Mark Korson from Tufts Floating Hospital for Children gives a "crash course" in interpreting lab values! Most patients with mitochondrial disease have faced a page of test results comprised of letters and numbers that would help them understand their current illness if the information made sense. CBC, CMP, LFTs, CPK, OAA and more...join us as we figure it out! CBC CMP Lactic acid pyruvic acid...

How can a service dog help a child or adult patient with mitochondrial disease? Learn more and ask questions, such as: How can service dogs help someone with mitochondrial disease? Do service dogs only help people who are deaf? What do service dogs do medically? How can my family apply for a service dog and what is our responsibility?

How can children, teens and adults with mitochondrial disease EXERCISE, especially if fatigue and exercise intolerance are hallmark symptoms of the disease? Metabolic Nurse Educator, Margaret O'Riley, from Vancouver, British Columbia shares about the research - and practical solutions - surrounding exercise and mitochondrial disease. This discussion will dig into questions that are relevant to chi...

As a follow-up discussion to Dr. Fran Kendall's presentation on "Muscle Biopsy Testing for Mitochondrial Disease", MitoAction welcomes Dr. Steve Sommer of MEDomics to discuss testing for mitochondrial disease using a blood sample. About MEDomics After 23 years in academia, Dr. Steve Sommer started MEDomics in order to apply a revolutionary technology called "NextGen sequencing" to clinical mitocho...

For someone who lives with mitochondrial disease, understanding the "big picture" is important. Dr. Koenig will explore the importance of caring for the whole patient when managing mitochondrial disease. How does each organ system affect others when looking at the "whole" person? For example, can treating anemia improve sleep? Can appropriate management of epilepsy improve a child's ability to lea...

Dr. Bruce Cohen from the Cleveland Clinic in Ohio discusses his perspective on the use of hyperbaric oxygen therapy, also known as HBOT, for people with mitochondrial disease. Hyperbaric oxygen therapy is the use of 100% oxygen at a level higher than the atmosphere.  HBOT is controversial, and has long been used to treat some conditions, such as carbon monoxide poisoning, burn inuries, and decompr...

For many years, muscle biopsy has been considered the "best" way to obtain an accurate diagnosis of mitochondrial disease.  Muscle biopsy is costly, it is invasive, and is occasionally controversial with results that can be difficult for patients and families to understand. Will there ever be an alternative to muscle biopsy testing for children and adults with suspected mitochondrial disorders?  W...

Join us this month to take a big picture look at agents that are toxic or potentially harmful to the mitochondria. Dr. Katherine Sims from Massachusetts General Hospital shares information important to everyone concerned about their health, and explains why recognizing potentially toxic agents - from medications to environmental factors - can be especially worrisome and detrimental for children an...

Join us this month to learn more about the challenges facing kids and adults with Mito when it comes to nutrition. What are the goals for Mito patients, and how are they different from nutrition goals for the typical population? About The Speaker Abby Usen received her B.S. in Food and Nutrition Sciences and Dietetics from the University of Vermont.  She completed her dietetic internship at the Fr...

Becoming a great advocate: advice for complex patients and families, with Mark Korson MD and Maggie Orr RN Adult patients, caregivers, parents of affected children - all of us face the same challenge.  How do we get our team on board? How do we get the help we need from doctors, teachers, nurses, therapists? How do we find ways to validate symptoms that are slippery or difficult to identify? And h...

One of the front-line treatment approaches to mitochondrial disease is use of a combination, unique to each patient based on symptoms and diagnosis, of vitamins and supplements such as Coenzyme Q10, B-vitamins, L-Carnitine, Creatine and Alpha Lipoic Acid. Compounding pharmacists Saad Dinno, RPh,  and Dr. Virginia Tawa, PharmD, from Acton Pharmacy answer everything you wanted to know about the ingr...

Learn about current treatment options. About the Speaker Dr. Anselm is a member of MitoAction's medical advisory committee and practices in Child Neurology at Children's Hospital Boston.  Her research is focused on clinical presentation of children with mitochondrial disorders and their response to therapy with different medications and vitamins/ supplements. Dr. Anselm is currently participating...

MitoAction welcomes psychologist Carole Slipowitz PhD and Tufts Metabolism clinic nurse coordinator Maggie Orr RN M.Ed to discuss the challenges of dealing with a diagnosis of mitochondrial disease. How do you cope with the unpredictable, invisible disease? Any chronic illness can be overwhelming - for a child, a family, or an adult with the condition.  However, due to the unpredictability, comple...

Please join us on as we welcome two experts in the field of Social Security Disability Insurance (SSDI) and Supplemental Security Income (SSI) provide an overview of these public benefits for Mito patients.  Topics to be covered in this conference call include: Overview of SSI and SSDI programs; The differences between SSI and SSDI; Social Security’s definition of disability as it pertains to mito...

Join us with Dr. Sumit Parikh, Director of the Cleveland Clinic Neurogenetics, Metabolic and Mitochondrial Disease program, and past president of the Mitochondrial Medicine Society. Learn more about the 2014-2015 publications based on collaborations and consensus surveys completed by the Mitochondrial Medicine Society. The landmark series of publications is the first to address existing standards...

Siblings of children with disabilities play important roles in their families, and often experience similar concerns and opportunities as parents. This session will present some common issues that siblings experience and share seven simple ways that parents and providers can help minimize sibling concerns and maximize opportunities to build close bonds with siblings.

What is the mitochondrial disorder PDCD? PDCD is an abbreviation for pyruvate dehydrogenase complex deficiency, a genetic mitochondrial disorder in children which is frequently associated with lactic acidosis and neurological/neuromuscular symptoms. Join us Friday November 7th, 2014 with Dr. Peter Stacpoole from the University of Florida to learn about testing, diagnosis and treatment of PDCD. (Fr...

What is the impact of illness or infection on a patient with mitochondrial disease? Patients, parents, and healthcare providers with firsthand experience of mitochondrial disease have probably experienced the consequences of an illness or infection. Illnesses and infections have a more dramatic and prolonged impact on children and adults who suffer from mitochondrial disorders, often causing long...

Join us for an informative discussion with Dr. Richard Frye, Director of Autism Research and Director of the Autism Multispecialty Clinic at Arkansas Children's Hospital Research Institute. There is increasing evidence that mitochondrial dysfunction is associated with autism spectrum disorder. Learn more about the latest research investigating the causes of this relationship, including the role of...

Understanding the mechanisms of mitochondrial deafness Join us this month with Dr. Peter Kullar, Clinical Research Fellow at the Wellcome Trust Research Centre for Mitochondrial Disease at Newcastle University (UK) to learn about mitochondrial disease and hearing loss. Key topics include: Mechanisms of hearing and hearing loss Clinical profile, workup and diagnosis of a new patient Treatments and...

Join us for the annual "Mito Town Meeting " on Thursday Jan. 9, 2014 at noon EASTERN time (9 a.m. Pacific). The annual town meeting is our way of kicking off the new year by sharing all that is planned for the year. We'll hear from volunteers and representatives from a variety of programs and organizations. This is the meeting to attend if you want to get involved or get informed!   AGENDA Welcome...

How can you prepare your child for independence? Transition to independence is challenging and important for all kids, but helping your child make good choices on his own when he or she also has a chronic illness can be complicated. How much independence is too much? At what age do you start planning for transition and allowing your child to make choices? How can we let our kids make their own dec...

Join us with Dr. Ben Bronstein and Travis Wilson from Stealth Peptides. Stealth Peptides is a private biotech company responsible for the development of innovative mitochondrial therapeutics, including the investigational new drug "Bendavia." Bendavia has been studied in animals and is currently in Phase 2 studies in patients with cardiovascular and kidney diseases. Bendavia appears to target mito...