Audio Podcast

This presentation will discuss mitochondria and psychiatry and cover the evidence that for a subset of people with bipolar disorder, mitochondria may be dysregulated in the brain. Medications used for bipolar disorder can change mitochondrial function and several novel strategies can target mitochondria.

Join us for this monthly expert series where we dive into what a genetic counselor is, what they do, how they can help you in your diagnostic journey, and some mito genetics 101.

The annual mito town meeting is our way of kicking off the new year by sharing all that we have in store for the next 12 months! We will hear from organizations and companies around the globe that have special opportunities, programs and projects for patients and families affected by mitochondrial disease.

The only thing universal about grief is that it’s universal, something we’ll all experience at some point in our lives. It’s messy, hard, non-linear, and while it may change, grief is never ending. The complexities of being a parent, caregiver, or patient in the mitochondrial disease community adds many layers that impact the grieving process. Join us as chaplain and author Becky Sansbury leads us in a discussion with Jessica Fein and Adam Johnson, about the different kinds of grief we experience throughout the mito journey.

Join Dr. Jordan Kemere as she discusses different components of healthcare transition including finding adult physicians, insurance changes, and transitioning to adult life. She will offer practical tips to parents and caregivers to start working on transition even at a young age.

There are so many misunderstandings and misconceptions of genetic testing. Dave will attempt to clarify these issues, and provide tools to empower patients to participate in their care from a financial perspective. His objective will be to provide a clear and concise breakdown of appropriate testing for Mito families seeking a diagnosis, while keeping their out of pocket costs as low as possible.

The underlying cause of LCHADD retinopathy is not fully understood. This presentation will look at the research that identifies the cell in the eye that is initially affected and characteristics associated with vision loss. Join Dr. Gillingham as she discusses early data on the natural history study and some new pre-clinical models to test novel treatments for LCHADD retinopathy.

Cardiac complications were often identified in symptomatic infants and children before newborn screening. Cardiac dysfunction can re-emerge or present for the first time during metabolic crisis at any age. This presentation with Dr. Melanie Gillingham will discuss the cardiac presentation in adolescent/young adults with LCHADD and discuss current efforts to better understand this late complication of LCHADD.

There was much discussion about current research in FAODs at our recent International Metabolic conference last month. Reneo Pharmaceuticals recently released positive results from the REN001 Phase1b LC-FAOD Study.

Mitochondrial Medicine at Children’s Hospital of Philadelphia (CHOP) is emerging as the premiere center in the world for multidisciplinary clinical care, advanced diagnostics and therapies, and individualized basic, translational, and clinical research programs dedicated to improving the health of patients of all ages living with mitochondrial disease. The program is part of the Division of Human Genetics. The Frontier Programs are unique, cutting-edge programs that will forge important new discoveries, deliver novel therapies, and help children and adults thrive. Please join us for an informational session to guide your visit and care through the CHOP Mitochondrial Medicine Program. Dr. Amy Goldstein, the Clinical Director, and Genetic Counselor James Peterson will answer your questions.

Join MitoAction and Dr. Mark Tarnopolosky to discuss: What exercises are good for mitochondrial disease and how do we exercise safely? Are there any diets or dietary concerns for patients with mitochondrial disease? What is the current status of the mitochondrial cocktail?

Dr. Marcus Favero speaking on Psychiatric Disorders, Medications & Mitochondrial Disease Depression, schizophrenia, bipolar disease, and other psychiatric diseases - what is the connection for patients with mitochondrial disease?

Talking points include: -What does the medical literature say regarding the uses of nutritional therapies in the autism and related neurodevelopmental disorders? -What about the uses of nutritional therapies in functional disease such as pain, fatigue, GI dysmotility, dysautonomia, anxiety, and depression? -What exactly is Spectrum Needs, and how can it be used as nutritional support for the above conditions? -Spectrum Needs beyond the spectrum: What about the use of this product in the average "mito" patient? -How to integrate SpectrumNeeds into a complicated supplement regiment? About The Speaker: Richard G. Boles, MD Dr. Richard G. Boles completed medical school at UCLA, a pediatric residency at Harbor-UCLA, and a genetics fellowship at Yale. For over two decades, Dr. Boles' clinical and research focus has been on changes in genes involved in energy metabolism, and more recently ion channels, and their effects on the development of common functional disorders. Examples include autism, pain syndromes, chronic fatigue, cyclic vomiting, intestinal dysmotility/failure, and depression. Dr. Boles practices the "bedside to bench to bedside" model of a physician-scientist, combining an active clinical practice with basic research into the underlying genetic predispositions leading to the same conditions. He has over 80 published papers, mostly in mitochondrial medicine. For 20 years, Dr. Boles was a faculty member at the Keck School of Medicine at USC and a practicing medical geneticist and metabolic specialist at Children's Hospital Los Angeles. He was a Medical Director of Lineagen and Courtagen, which are/were genetic testing companies. Dr. Boles became involved in genetic testing in order to facilitate the translation of the vast amounts of acquired genetic knowledge into applications that improve routine medical care. Dr. Boles has an active private practice in Pasadena and Aliso Viejo, CA. About half of the patients he currently sees as a physician have one of more functional conditions, especially cyclic vomiting syndrome, other forms of complex migraine, and/or chronic fatigue syndrome. Most of the other half have an autistic spectrum disorder or related condition. His clinical practice is devoted to using information, including genetic testing, to guide options for therapy. His care philosophy, practice, and types of patients he accepts are discussed at http://molecularmitomd.com. A telemedicine practice has just started at https://cnnh.org. Dr. Boles also does legal consulting, especially for those with multiple functional conditions that others are considering fictitious disorder/Munchausen-by-proxy/medical child abuse. Finally, he is the primary designer of SpectrumNeedsTM, a nutritional product with 33 active ingredients designed for individuals with autism or other neurodevelopmental disorders, with an emphasis on assisting mitochondrial function (https://www.neuroneeds.com).

Join Amanda Balog, CGC, Senior Genetic Counselor, Mitochondrial and Metabolic Genetics, of GeneDx as she discusses: "What You Should Know About Genetic Testing for Mitochondrial Disorders." Talking points include: Many genetic testing options for Mito patients are available and no one test is right for every individual patient. Sample type matters when testing for mitochondrial disorders. Detailed clinical information and family member testing is important for the interpretation of genetic testing. About The Speaker Amanda Balog is a board-certified genetic counselor and is the lead genetic counselor for the Mitochondrial and Metabolic Testing Programs at GeneDx. Prior to joining GeneDx, Amanda worked for several years as a clinical and research genetic counselor specializing in immune and lysosomal storage disorders.

Join us with Dr. Richard Boles as we learn more about how to interpret genetic test results. The landscape today for a mitochondrial disease diagnosis is rapidly changing and now includes some genetic testing for most patients. However, many families are confused even further by the results. What is an VUS? What do the specific mutations mean? What does 30% depletion mean? Learn the nuts and bolts of interpreting today's genetic tests from Dr. Boles in this informative discussion. About the Speaker Dr. Boles completed medical school at UCLA, a pediatric residency at Harbor-UCLA, and a genetics fellowship at Yale. He is board certified in Pediatrics, Clinical Genetics and Clinical Biochemical Genetics. His current positions include Associate Professor of Pediatrics at the Keck School of Medicine at USC, attending physician in Medical Genetics and General Pediatrics at Childrens Hospital Los Angeles, and Medical Director of Courtagen Life Sciences. Dr. Boles practices the "bedside to bench to bedside" model of a physician-scientist, combining an active clinical practice in metabolic and mitochondrial disorders with clinical diagnostics and basic research through Courtagen. Dr. Boles' clinical and research focus is on polymorphisms (common genetic changes) in the DNA that encodes for mitochondrial genes, and their effects on the development of common functional disorders. Examples include migraine, depression, cyclic vomiting syndrome, complex regional pain syndrome, autism and SIDS.

Meet Andrew Mele

Join in to listen to RN, Julie Gortze.

Organizations share what they have planned for the next 12 months. The annual town meeting is our way of kicking off the new year by sharing all that is planned for the next 12 months. We'll hear from organizations and companies around the globe that have special opportunities, programs, and projects for patients and families with mitochondrial disease. We'll hear from the following organizations, among many others! MitoAction Mitochondrial Medicine Society Foundation for Mitochondrial Medicine BioElectron Stealth BioTherapeutics Oley Foundation GeneDx Miracles for Mito UMDF MitoBridge Ultragenyx Reata Pharmaceuticals VMP Genetics Lineagen Mitochondrial & Molecular Medicine North American Mitochondrial Disease Consortium Australian Mitochondrial Disease Foundation ThriveRx

Please join MitoAction as we welcome Annette Hines, Esq., founding partner of the Special Needs Law Group of Massachusetts. Ms. Hines will be speaking on the basics of estate planning and special needs trusts laws in the U.S. Questions to be answered include: What is estate planning? Why should you create a plan for your estate? What does a will do? What is probate, and which assets go through it? What is a trust? What documents are required for incapacity planning? What is a special needs trust, and why would you need one? About the Speaker Ms. Hines has been practicing in the areas of Special Needs, Elder Law and Estate Planning for over fifteen years. She received her JD from Howard University School of Law, her MBA from Suffolk University and her BA from the University of Vermont. Her clients include individuals and families of children with special needs, the elderly and others in the community. Ms. Hines is the mother of two daughters, one of whom passed away from mitochondrial disease in November of 2013. Her personal experience as the mother of a child with special needs fuels her passion for quality special needs planning and drives her special understanding and dedication to her practice. Prior to practicing law, she founded and directed the nonprofit home care company, Special Families-Special Care, Incorporated which created a new standard for caregiving and a greater pay scale for caregivers. After leading the company to $1.5 million in revenue and 50 employees, she merged it with Shriver Clinical Services Corporation of Natick, Massachusetts and shifted her focus to her law practice. In addition to her membership in the Massachusetts Bar Association, she is a member of the National Academy of Elder Law Attorneys (NAELA), the National Academy of Special Needs Planners (ASNP) and the Massachusetts Association of Women Lawyers (MAWL), serving most recently as President. Recognized as a Distinguished Citizen by ARC Massachusetts and cited for public service by both the Massachusetts State Senate and House of Representatives, Ms. Hines works tirelessly on behalf of people with disabilities. Ms. Hines served as President of the Massachusetts Association of Women Lawyers for 2008-2009 and serves on the Board of Directors for a number of local non-profit organizations.

What is the historical use of marijuana for medical purposes? Are there legalities associated with medical marijuana use? When is medical cannabis a potential therapeutic option for patients with mitochondrial disease? Are there guidelines on dosing and use? Is it true that medical cannabis is for pain and seizures only? Is marijuana addictive, even when used for medical purposes? Have there ever been safety studies published about use of marijuana for medical purposes? Join us with Dr. Fran Kendall to get the answers to these questions and more regarding the use of medical marijuana (cannabis oil) for treatment in mitochondrial disease patients. Georgia just signed into law the use of cannabis oil for a number of diseases, including mitochondrial disease. Several Mito families in Georgia advocated on behalf of this legislation. While 35 other states have passed similar legislation, Georgia is the first state to include mitochondrial disease in the list of disorders to be treated. Dr. Kendall will touch on historical perspective, mechanisms of action, dosing, safety and outcome data. About the Speaker Dr. Kendall trained and served on the staff at Boston Children's Hospital and Harvard Medical School for a number of years. She was the previous 50% owner of a successful genetic laboratory/healthcare provider (Horizon Molecular Medicine), and has extensive experience in the diagnosis and management of children with a wide array of metabolic disorders. She brings this vast experience to her private practice, VMP, LCC, as president and founder. Dr. Kendall is a well respected pediatrician as well as biochemical geneticist, and she has authored numerous research articles on rare diseases ranging from Nieman Pick Type C and mitochondrial disease. As one of the few clinical mitochondrial disease experts, she has a long-term interest in research and clinical aspects of rare metabolic diseases.

We had a wonderful Awareness Rally on Friday, Sept. 5, featuring people who are doing amazing things to raise awareness about mitochondrial disease. Each speaker brought great ideas to the table and truly demonstrated the diverse ways we can raise awareness in our communities. We want you to get excited and inspired about raising awareness. Below, you will find some helpful links and ideas from our speakers. Let's take action to improve the lives of patients and families with mitochondrial disease! Kristi Wees' blog, Baby Food Steps (and her Mito Minutes) Kristi's California Pizza Kitchen fundraiser Sept. 15-18 in Pittsburgh Request a CPK fundraiser night Christine Knox's Mito Quilts of Hope website Facebook page for Mito Quilts of Hope Christine's Story on Indiegogo campaign Facebook page for Cream Mito Cooper's Race: A MitoAction Energy Walk & 5K Race in Kingsport, TN Mito Mad Hatter 5K Here's an easy way to make Mito cookies! Cut out sugar cookies using a jelly bean shaped cutter, then decorate with frosting and round sprinkles. Put some in baggies with an information card about Mito and hand them out to your school class, at work, at parties! Thanks, Nicole and Natalie Dion, for the great idea! Cooper Open and Cooper Open Scholarship in Greenland, NH Kelley and Alyssa Curley, along with the rest of their family, make and sell these rainbow loom bracelets for Team Lissy Loo for the MtioAction Energy Walk & 5K. So far they've sold over 700 and made $700 for Team Lissy Loo! For more on Team Lissy Loo, click here. Jeantine Lunshof was recently diagnosed with Mito and takes every opportunity to educate her Harverd colleagues. Her team for the MitoAction Energy Walk & 5K is Running Genes. Ethan Allen, captain of Mito Warrior's Platoon, has been collecting bottles and cans for his MitoAction Energy Walk & 5K team. He also holds information booths, has been in the media, and recently participated in the Fonda Fair Convoy for a Cause. For more on his story, click here. Tell your story to legislators; fight to pass bills; be vocal! Mito Support of New England meeting feature Rep. Paul Heroux, who is trying to pass a bill to form a Rare Disease Advisory Council in Massachusetts House Bill 977 would mandate coverage of the Mito Cocktail for all mitochondrial disea

Frustrated with the run-around from health insurance companies? Join us this month as we discuss strategies for advocating for the diagnosis, management, and treatment of your mitochondrial disease: Questions to ask when you receive a health insurance denial How to write and get help with an appeal Easy relationship building strategies to give you the advantage Online tools and organization habits to stay on top of claims

Dr. Matt Kline & Dr. Guy Miller

Join us with Stealth BioTherapeutics CEO Travis Wilson and others from the Stealth BT team for a live update from Stealth BT (click here to check out their website), information about Bendavia, and details about StealthBioTherapeutics' 2015 mitochondrial myopathy clinical trial. A Q&A opportunity is included in this important discussion. Parents, patients and families - please join us! This special teleconference/webinar is offered in collaboration by the UMDF and MitoAction. For more information about the Stealth Mitochondrial Myopathy Trial, please call the trial question hotline 1-877-227-5018 Or visit www.clinicaltrials.gov (search Bendavia) Trial Question Hot Line: 1-877-227-5018 https://www.mitoaction.org/resources/stealth-bt-mitochondrial-myopathy-trial/

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 change information available about family inheritance of mitochondrial diseases? Do advances in genomic sequencing impact treatment options for Mito patients? About The Speaker: Dr. Boles completed medical school at UCLA, a pediatric residency at Harbor-UCLA, and a genetics fellowship at Yale. He is board certified in Pediatrics, Clinical Genetics and Clinical Biochemical Genetics. His current positions include Associate Professor of Pediatrics at the Keck School of Medicine at USC, Director of the Metabolic and Mitochondrial Disorders Clinic at Children's Hospital Los Angeles, and Medical Director at Courtagen Life Sciences Inc. Dr. Boles practices the "bedside to bench to bedside" model of a physician-scientist, combining a very active clinical practice in metabolic and mitochondrial disorders with basic research as Director of a mitochondrial genetics laboratory at the Saban Research Institute. Dr. Boles' clinical and research focus is on polymorphisms (common genetic changes) in the maternally-inherited mitochondrial DNA, and with new technology in the nuclear DNA (chromosomes), and their effects on the development of common functional disorders. Examples include migraine, depression, cyclic vomiting syndrome, complex regional pain syndrome, autism and SIDS. He has 50 published papers on mitochondrial disease. Dr. Boles is responsible for the final review of DNA sequences at Courtagen.

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 treated About The Speaker: Dr Richard Frye, MD, Ph.D.is the Director of Autism Research at Arkansas Children's Hospital/University of Arkansas Medical Sciences in Little Rock, AR. Dr Frye is a well-recognized expert in the diagnosis and treatment of ASD and other developmental disorders. Dr. Frye has a broad background including specific training in neurodevelopmental disorders, physiology, psychology and biostatistics. He is fellowship trained in Behavioral Neurology and Psychology and has clinical expertise in the assessment, diagnosis and treatment of children with ASD. While at the University of Texas he developed a medically-based autism clinic which was specifically designed to diagnose and treat neurological and metabolic abnormalities associated with ASD in order to improve quality of life and promote recovery. Over the past two years he have completed three clinical studies related to ASD, including an open-label trial examining the metabolic and behavioral effects of tetrahydrobiopterin, a clinical study of the metabolic and genetic characteristics of children with ASD and mitochondrial disease, and a clinical study on the prevalence of the folate receptor alpha autoantibody in children with ASD as well as the response to leucovorin treatment in ASD children with the folate receptor alpha autoantibody. As Director of Autism Research at the Arkansas Children's Hospital his goal is to develop an integrated autism program that includes a multi-specialty autism clinic, a translational research program focusing on biomarkers and clinical-trials, and a basic science program focusing on mitochondrial and redox metabolic metabolism.

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 amino acids organic amino acids ammonia electrolytes glucose bicarbonate/co2 metabolic labs CPK LFTs carnitine TFTs: TSH, T4, T3 cerebral folate About The Speaker: Mark Korson graduated from the University of Toronto medical school and completed his pediatric residency nearby at The Hospital for Sick Children. He came to Boston to do a fellowship in genetics and metabolism at Children's Hospital. Following that, he directed the Metabolism Clinic at Children's until 2000, transferring then to Tufts Medical Center's Floating Hospital for Children. He is currently the Director of the Metabolism Service and an Associate Professor of Pediatrics at Tufts University School of Medicine. Besides clinical medicine, a key focus for Dr. Korson is education. He is concerned about the growing crisis in metabolic health care due to the shortage of clinicians available to treat this community. To complicate this situation, there are too few people entering this subspecialty. In the fall of 2007, Dr. Korson launched the Metabolic Outreach Service, for which he has travelled on a regular basis to five teaching hospitals in the northeastern US where there is no on-site metabolic service. The goal is to provide educational and consultative support so that non-metabolic clinicians can learn how to participate more in the diagnosis and management of patients with metabolic disease. A component of this effort is the Patient-As-Teacher Project, which engages patients and family members to participate actively in the teaching of medical students, house-staff, primary care providers and specialists. The Outreach Service is funded by a consortium of corporate and disease foundation sponsors. In addition, Dr. Korson co-directs the North American Metabolic Academy, a one-week intensive course about metabolic disease for genetic and metabolic trainees. NAMA is sponsored by the SIMD, the Society for Inherited Metabolic Diseases.

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 children, teens and adult patients, such as: Why or why not should my child or I exercise? How? What does the research say? What type of exercise is best? About the Speaker Margaret is a registered nurse who has been practicing for 18 years. 11 of those years have been spent at the Adult Metabolic Diseases Clinic at Vancouver General Hospital where she focuses her practice on working with adults with mitochondrial disease. Through the years, Margaret has learned a great deal about living with mitochondrial disease from the patients she works with. She is passionate about her work and about supporting this population. Her other passion is her 3 little boys, ages 2, 5 and 7.

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 mitochondrial medicine. (www.medomics.com) MEDomics sequences the entire mitochondrial DNA genome thousands of times. That sometimes allows the diagnosis of mitochondrial disease to be made with a blood sample rather than with painful muscle biopsies. MitoDx is a test of unprecedented power for diagnosing mitochondrial genome disease, which is roughly "half the elephant" of mitochondrial disease.

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 learn and attend school? Naturally, the symptoms and issues related to one's mitochondrial disease diagnosis are not isolated to one part of the body, and consideration of the impact that these symptoms have on the "whole person" is important. About the Speaker Dr. Mary Kay Koenig, a pediatric neurologist at Children's Memorial Hermann Hospital and assistant professor in the Department of Pediatrics, Division of Child and Adolescent Neurology, at the University of Texas Medical School at Houston. Dr. Koenig is a member of the American Academy of Pediatrics, the American Academy of Neurology and the Child Neurology Society. She is a board member of the Houston chapter of the United Mitochondrial Disease Foundation. Dr. Koenig's research interests are focused on mitochondrial disorders, neuro-metabolic disorders, autoimmune epilepsy, and neuro-genetic disorders.

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 decompression sickness. However, some studies propose that HBOT may play a positive role with other conditions, such as autism, cerebral palsy, brain injury, multiple sclerosis and others. Some patients and parents ask, "Is hyperbaric oxygen therapy safe for a person with the diagnosis of mitochondrial disease?" About the Speaker Dr. Bruce Cohen, from the Cleveland Clinic in Ohio, is well known in the mitochondrial disease community. In addition to his background in mitochondrial medicine, Dr. Cohen has an extensive background in conducting clinical trials for cancer treatment.

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? When does someone need a muscle biopsy? Why (and when) is a muscle biopsy necessary? Dr. Fran Kendall from Virtual Medical Practice in Atlanta, Georgia updates us on the latest approaches to testing for mitochondrial disease. Muscle biopsies - why are they done? How do muscle biopsies help with a diagnosis? Fresh vs. frozen - is one better? Cost factors for Mito muscle testing Emerging trends in enzymology: buccal swab studies The need to identify causative Mito genes.

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 and adults who have a mitochondrial disorder. About the Speaker Katherine Sims, MD is an associate professor of Neurology at Harvard Medical School and Director of the Developmental Neurogenetics clinic at MGH in Boston, MA. Dr. Sims is also chair of MitoAction's Medical Advisory Committee and works in research collaboration with Dr. Vamsi Mootha at the Broad Institute toward clinical phenotyping and metabolic profiling for mitochondrial disorders. Dr. Sims oversees the MGH Mitochondrial Disorders Clinical Registry and Tissue Bank.

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 Frances Stern Nutrition Center and received her M.S .from the Friedman School of Nutrition Science and Policy at Tufts University. Since gradating from Tufts, she worked as a clinical dietitian/clinical nutrition manager at the Massachusetts Hospital School in Canton, Ma where she specialized in nutrition for children and adolescents with developmental disabilities. Most recently she has been an outpatient dietitian specializing in Pediatric Gastroenterology at Floating Hospital for Children at Tufts Medical Center. A great portion of her time is specifically working with patients with failure to thrive, gastrointestinal dysmotility and mitochondrial disease. She also spent 3 years working with patients having Inborn Errors of Metabolism and is the current Chair, of the Massachusetts Pediatric Practice Group.

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 how do we do this in a way that brings positive results and cooperation instead of provoking stress and hard feelings?

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 ingredients which make up the mysterious "Mito Cocktail." What is a compounding pharmacist? How do ingredients in the Mito cocktail different from a compounding pharmacist than an over-the-counter source? What are the side effects of the vitamins & supplements used to support adults and children with mitochondrial disease? Which vitamins and supplements are most commonly included in a treatment regimen?

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 in several clinical research studies. She is a co-investigator in a study using Dichloroacetate (DCA) to treat children with lactic academia. She sees children enrolled in the protocol when they are admitted to CH for DCA initiation and follows them in the Mitochondrial Program while they are being maintained on the DCA. Dr. Anselm also is Principal Investigator in a study entitled "Indirect calorimetry and nutritional assessment in patients with mitochondrial disorders." Children enrolled in this study undergo evaluation of their resting energy expenditure by indirect calorimetry and nutritional assessment. They also undergo metabolic evaluation by measurement of the levels of micronutrients/vitamins in their blood. Dr. Anselm also is involved in a multicenter study of patients with Angelman syndrome.

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, complexity of symptoms, and uncertain prognosis, a diagnosis of mitochondrial disease is especially stressful...and exhausting. About the Speaker Maggie Orr is the nurse coordinator at the Tufts Medical Center Floating Hospital for Children in Boston; she has 10 years of prior experience with mitochondrial disease patients. Carole Slipowitz has over 20 years of experience as a psychologist; for the past 2 years she has served as a consultant to MitoAction's Mito 411 support line.

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 mitochondrial disease; How SSDI is designed to work, eligibility criteria, and the full range of SSDI benefitts; The application and appeals processes for SSI and SSDI; Resources available to support SSI and SSDI applications and appeals processes; Information on SSI and SSDI benefits for adult disabled children; Returning to work after obtaining social security benefits (the "Ticket to Work Program"); Specific challenges for individuals with mitochondrial disease in applying for SSDI and how to address them; and The benefits of professional representation and how to evaluate representation options. About the Speakers: Annette Hines has been practicing in the areas of Special Needs, Elder Law and Estate Planning for over fifteen years. She received her JD from Howard University School of Law, her MBA from Suffolk University and her BA from the University of Vermont. Her clients include individuals and families of children with special needs, the elderly and others in the community. Ms. Hines is the mother of two daughters, one of whom passed away from mitochondrial disease in November of 2013. Her personal experience as the mother of a child with special needs fuels her passion for quality special needs planning and drives her special understanding and dedication to her practice. Prior to practicing law, she founded and directed the nonprofit home care company, Special Families-Special Care, Incorporated which created a new standard for caregiving and a greater pay scale for caregivers. After leading the company to $1.5 million in revenue and 50 employees, she merged it with Shriver Clinical Services Corporation of Natick, Massachusetts and shifted her focus to her law practice. In addition to her membership in the Massachusetts Bar Association, she is a member of the National Academy of Elder Law Attorneys (NAELA), the National Academy of Special Needs Planners (ASNP) and the Massachusetts Association of Women Lawyers (MAWL), serving most recently as President. Recognized as a Distinguished Citizen by ARC Massachusetts and cited for public service by both the Massachusetts State Senate and House of Representatives, Ms. Hines works tirelessly on behalf of people with disabilities. Ms. Hines served as President of the Massachusetts Association of Women Lawyers for 2008-2009 and serves on the Board of Directors for a number of local non-profit organizations. Tai Venuti has more than 20 years of health education, marketing, sales, community and public relations experience in nonprofit, government and corporate arenas. As Allsup's manager of strategic alliances, she develops and grows relationships with organizations that share the company's commitment to empowering people with disabilities to live lives as financially secure and healthy as possible. Ms. Venuti is a former journalist and public relations executive. She previously managed national public health campaigns for the U.S. Department of Health and Human Services. She holds a master's degree in public health from St. Louis University, a bachelor's degree in journalism from Michigan State University, and is accredited by the Public Relations Society of America.

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 of care and most common approaches to diagnosis, use of supplements and symptom management by leaders in mitochondrial medicine around the US. Key points: Mitochondrial medicine's complexity bring unique challenges to physicians The practice of Mitochondrial Medicine has varied from provider-to-provider Patients and families deserve uniformity in regards to diagnosis and treatment The MMS Consensus Project was conceived with this goal in mind About The Speaker Dr. Parikh is the Director of the Cleveland Clinic Neurogenetics, Metabolic & Mitochondrial disease program. His clinical and research interests include the genetic diagnosis and treatment of patients with mitochondrial cytopathies, inborn errors of metabolism, cognitive and developmental regression, autism, leukodystrophies and developmental delays. He is part of the North American Mitochondrial Disease Research Consortium (NAMDC) and the Primary Investigator for the Pearson Syndrome Natural History study. He is an invited lecturer at national meetings and hospitals. He completed his residency in pediatrics and fellowship in child neurology at the Children's Hospital of Pittsburgh and received additional training in genetics and metabolism at Cleveland Clinic and Centers for Inherited Diseases of Metabolism. Dr. Parikh has had the privilege of having Bruce Cohen, Charles Hoppel and Marvin Natowicz serve as his teachers during that time. He joined the Cleveland Clinic in 2004. Since 2007, Dr. Parikh has been selected as one of "America's Best Doctors." He serves as Scientific & Medical Advisor to the United Mitochondrial Disease Foundation, Cyclic Vomiting Syndrome Association and the International Foundation for CDKL5 Research. He is the Past President of the Mitochondrial Medicine Society. He is an invited faculty member of the North American Metabolic Academy. He was on the scientific planning committee of the Child Neurology Society and is an ad hoc reviewer for the Journal of Child Neurology, Journal of Inherited Metabolic Disease and Molecular Genetics & Metabolism.

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. (From Dr. Stacpoole's Benefunder Research page) Mitochondria are the intracellular "powerhouses" of our cells. They are responsible for generating the energy needed by every tissue and organ in our bodies to perform their normal functions. Energy is essential to life and, when energy production is compromised, disease results. PDC is a key enzyme for maintaining the body's energy supply. The scientific team lead by Dr. Peter Stacpoole at the University of Florida in Gainesville, Florida, has connected a number of disease states to their potential treatment with the drug dichloroacetate (DCA). DCA stimulates PDC, increasing its ability to promote cellular energy production. DCA has shown promise in treating several life-threatening diseases, including cancer, pulmonary arterial hypertension and congenital PDC deficiency in children. Solutions are needed to deliver the fruits of science to patients for whom they are intended. With DCA, Dr. Stacpoole's team has developed a uniquely acting compound that is a prototype of new class of drugs to increase the efficiency of normal metabolic processes essential for cell survival. Indeed, the story of DCA is a striking example in which the basic scientific questions have been answered and animal studies and even early stage clinical trials have been conducted. Yet, DCA is too simple a molecule to be patented. This problem has prevented traditional pharmaceutical support for conducting human trials with DCA in diseases in which currently approved therapy is either inadequate or nonexistent. About the Speaker Dr. Stacpoole received his Ph.D. in 1972, from the University of California at San Francisco. He received his MD degree in 1976, from Vanderbilt University in Nashville, Tennessee. He also completed his internship and residency (1976-1978) training in Internal Medicine and Endocrinology Fellowship (1978-1980) training at Vanderbilt University. In 1980, Dr. Stacpoole became a member of the Department of Medicine at the University of Florida where he is currently a Professor of Medicine, Biochemistry and Molecular Biology. Research Interests Dr. Stacpoole's federally-sponsored research is broadly focused in two areas: intermediary metabolism and new drug development. He conducts patient oriented research on the Shands Hospital Clinical Research Center (CRC) and collaborates with investigators across N. America into the causes and treatment of genetic mitochondrial diseases, due to nuclear DNA or mitochondrial DNA mutations in genes that encode enzymes of carbohydrate metabolism or oxidative phosphorylation. These studies also engage collaborators with expertise in neurology, neurobehavior, clinical pharmacology, neuroscience and cell and molecular biology. Related research includes mechanistically oriented laboratory studies on the molecular and biochemical consequences of loss-of-function mutations in the mitochondrial pyruvate dehydrogenase complex (PDC) and therapeutic interventions for PDC deficiency. He also collaborates with other faculty at the University of Florida to investigate the regulation of homocystine metabolism in humans in response to different genotypes or nutritional perturbations. With regard to new drug development, Dr. Stacpoole and his colleagues have developed a prototype for a novel class of investigational drugs fo

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 periods of fatigue, regression in developmental milestones, skills or baseline function, and exacerbation or complaints of additional (unrelated) symptoms during and after the period of illness. In addition, some physicians and families notice an increased susceptibility to illness for patients with mitochondrial disease. However, there is limited published data on systematic analysis of immune system in patients with mitochondrial disease. Research focusing on the relationship between immune function and the mitochondria has been mostly limited to cell-based studies. Join us to listen, learn and discuss the recent research and publication from an interdisciplinary collaboration between clinical investigators, Dr. Melissa Walker (Neurology), Katherine Sims (Metabolic Diseases) and Jolan Walter (Pediatric Immunology) at Massachusetts General Hospital, Boston, MA. These clinicians sought to determine how often infection and illness (including a systemic inflammatory response) occurred in patients with well-defined mitochondrial disease and immunodeficiency. A subset of their mitochondrial patients with evidence of immune abnormaliites repsponded well to immunoglobulin replacement therapy with less infections, preserved developmental milestones and improved quality of life. About the Speaker Dr. Katherine Sims is a Pediatric Neurologist at the Massachusetts General Hospital. Her clinical work over the last 30 years has focused on the broad scope of neurogenetic disorders including those of the lysosome, particularly neuronal ceroid lipofuscinosis [Batten disease, NCL disorders], Fabry disease, Norrie disease, general neurometabolic disorders and, most recently, the primary mitochondrial energy metabolism disorders Over the last 15 years, Dr. Sims, working as clinician scientist, has directed the design and development of Patient Registries and BioRepositories for Mitochondrial, NCL and Norrie diseases. She is an expert diagnostician and works with great facility in identifying clinical cases and facilitating entry into appropriate clinical translational studies. Jolan E. Walter, MD, PhD is the Director of Pediatric Immunodeficiency Program at Massachusetts General Hospital for Children. Dr. Walter’s clinical care focuses on patients with immune deficiency. She jointly follows patients with mitochondrial disease and immune dysfunction with the Neurogenetics Program (Dr Kathy Sims, Dr Amel Karaa and Dr Melissa Walker). She also conducts translational research on autoimmune manifestation of primary immunodeficiencies. Dr. Walter has graduated with a MD and PhD from University of Pecs, Hungary. Dr. Walter is has trained in Pediatrics at Children’s Hospital of the King’s Daughters, Eastern Virginia Medical School and in Allergy/Immunology at Boston Children’s Hospital. During her training, she conducted research both in the field of Virology and Immunology. Melissa A. Walker, MD, PhD is a fourth year trainee in the Massachusetts General Hospital Child Neurology Residency ProgramDr. Walker’s clinical and scientific interests focus on improving the understanding and treatment of primary mitochondrial disorders. Dr. Walker received her MD and PhD degrees from Columbia University College of Physicians and Surgeons in New York City, New York. She train

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 oxidative stress for these children. Topics include: The evidence for mitochondrial disease and dysfunction in autism spectrum disorder The importance of the oxidative stress in autism spectrum disorder and its impact on mitochondrial function The evidence for a subset of children with autism with acquired mitochondria dysfunction as a result of high levels of oxidative stress About The Speaker Dr. Richard Frye is the Director of Autism Research at Arkansas Children's Hospital Research Institute, Director of the Autism Multispecialty Clinic at Arkansas Children's Hospital and Associate Professor in Pediatrics at the University of Arkansas for Medical Sciences. He received his MD/PhD from Georgetown University in 1998. He completed a residency in Pediatrics at the University of Miami, Residency in Child Neurology and Fellowship in Behavioral Neurology and Learning Disabilities at Harvard University/Children’s Hospital Boston and Fellowship in Psychology at Boston University. He holds board certifications in Pediatrics, and in Neurology with Special Competence in Child Neurology. Dr. Frye is a national leader in autism research. He has authored over 100 peer-reviewed publications and book chapters, and serves on several editorial boards of prestigious scientific and medical journals. Over the past several years he has completed several clinical studies on children with autism spectrum disorder (ASD), including studies focusing on defining the clinical, behavioral, cognitive, genetic and metabolic characteristics of children with ASD and mitochondrial disease and several clinical trials demonstrating the efficacy of safe and novel treatments that address underlying physiological abnormalities in children with ASD, including open-labels on tetrahydrobiopterin, cobalamin and folinic acid and a recent double-blind placebo controlled trial on folinic acid. Future research efforts are focused on defining physiological endophenotypes of children with ASD and developing targeted treatments.

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 new directions for therapies Research studies for patients with mitochondrial disease related hearing loss Dr. Kullar and Dr. Chinnery have a specific interest in the A1555G mutation (antibiotic associated deafness) and in causes of mitochondrial disease related deafness. Learn more at http://www.newcastle-mitochondria.com/research-projects/understanding-mechanisms-mitochondrial-deafness/ About the Speaker Dr. Peter Kullar is a clinical research fellow at Newcastle University's Wellcome Centre for Mitochondrial Disease Research.

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 MitoAction Socials & Events UMDF Meeting 2014 Courtagen Life Sciences EPI-743 Clinical Trial Thrive RX iThrive webinars Camp Korey Mito Weeks Hole in the Wall Gang Camp Stealth Peptides Miracles for Mito Foundation for Mitochondrial Medicine Light a Light for Mito Mito 411 & Marcel's Way Research Study Updates Northwest Mito Guild Mito Canada 1:15-1:30 Additional announcements and questions – all are 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 decisions - and their own mistakes - when the stakes are so high? How can kids learn to self-advocate? What can parents do to help their chronically ill kids be able to listen to their own bodies, and to learn to plan accordingly? Join us for a special presentation on "Tools for Transition: Gaining independence" with Ann Weaver, patient advocate at Thrive RX, and Dr. Parag Shah, medical director of the Children's Chronic Illness Transition Team at Lurie Children's Hospital. About The Speaker Parag Shah, MD, MPH - Dr. Shah currently serves as the medical director of the Chronic Illness Transition Program at Lurie Children's Hospital in Chicago, IL. The Program works to provide education to youth and staff regarding transition, advise departments on their transition programs, and conduct some research surrounding transition. Dr. Shah graduated from Albert Einstein College of Medicine and completed his residency training at Children's Memorial Hospital in Chicago. He currently also works as a hospitalist at LaRabida Children's Hospital. Ann Weaver - Ann is a Consumer Advocate for ThriveRx and the parent of a 19 year old son with chronic health issues. She recognizes the importance of providing teachable moments for children growing up with chronic health needs and guiding them to independence. She has advocated for parenteral and enteral consumers as an OLEY volunteer regional coordinator. As an CA she supports HPEN consumers and has developed transition materials for parents of children requiring nutrition support. Ann has presented on transitioning youth on HPEN at OLEY, AGMD and ASPEN. She has shared the perspective of consumer/caregiver at ASPEN and to other professionals, students and industry leaders in the parenteral and enteral nutrition field. Ann holds an undergraduate degree in Psychology from Illinois Wesleyan University in Bloomington, Illinois.

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 mitochondria and may preserve cellular ATP levels and prevent pathological reactive oxygen species formation in disease. Please join us to learn more about this exciting new drug and future possibilities for use of Bendavia by children and adults with mitochondrial disease. About The Speaker Travis Wilson is the president and CEO of Stealth Peptides Incorporated, a clinical stage biopharmaceutical company developing a novel class of mitochondria-targeted peptide therapeutics for treatment of ophthalmic and orphan diseases. Stealth Peptides’ lead compound in Phase 2 development, Bendavia, maintains mitochondrial bioenergetics including membrane potential and respiration under pathological conditions. Bendavia has been shown to improve cellular ATP levels in disease, and prevent pathological reactive oxygen species (ROS) formation, thereby improving compromised cardiac, renal and skeletal muscle function. Travis also serves as a director on several boards for preclinical and clinical stage companies, providing operational and management oversight to a portfolio of companies developing drugs across a broad spectrum of therapeutic focus, including oncology, cardiology and critical care. Travis is a member of the life science investment team at the Morningside Group, a private investment group. Ben Bronstein is the Vice President of Clinical Development at Stealth Peptides Incorporated, a clinical stage biopharmaceutical company developing a novel class of mitochondria-targeted peptide therapeutics for treatment of ophthalmic and orphan diseases. In addition to his role with Stealth Peptides, Ben is a Visiting Scholar at the Wyss Institute of Biologically Inspired Engineering at Harvard University. A board certified pathologist, Ben began his professional career on the staff of the Massachusetts General Hospital and on the faculty of Harvard Medical School. He has spent the past 25 years in entrepreneurial roles at life science firms and in venture capital. Ben has founded or held senior management positions at several venture-backed life science firms, including BioSurface Technology (regenerative medicine), Peptimmune (immunotherapeutics), Vidus Ocular (glaucoma device) and Neuron Systems (dry AMD). Most recently Ben has served as a founder and senior vice president of Access BridgeGap Ventures, the life science investment unit of Access Industries, Inc. Ben is also a member of the Weill Cornell Medical College Faculty Industry Council and the Oversight Committee of the Coulter Translational Partnership program in Biomedical Engineering at Boston University.

It's time to take charge of the many hours that we as patients and families spend in clinics, waiting rooms, hospitals, and healthcare provider offices. How can you get more out of every appointment? More importantly, how can you get what you need from those interactions? Health care is changing, for better or for worse it's a new landscape. As a result, there are many, many changes which are forced upon healthcare providers and their patients. From changes in insurance reimbursement to productivity expectations for physicians, it's tough for both physicians and their patients right now. Meanwhile, children and adults with mitochondrial disease live with complex illness and in most cases a long list of symptoms. We have mulitple specialists, sometimes in multiple places. We have local docs, community hospitals, university clinics, specialists, therapists, outpatient labs, inpatient labs, out-of-state Mito specialists, etc. etc. How can we stack the odds in our favor so that we, the patients and parents, get the most out of every healthcare interaction? Join us with MitoAction's Executive Director Cristy Balcells RN MSN and Kathy Rivers MD to dig in to this topic and to hear strategy suggestions from Cristy and Kathy. Cristy and Kathy are both moms to children who live with mitochondrial disease and healthcare providers. We'll take a look behind the scenes of what happens outside of the waiting room and how to get more from all of those hours spent in the clinic.

This topic is dramatically important to the parents of children with complex gastrointestinal presentations of mitochondrial disease. MitoAction brings this topic to our Mito community today in response to the increasing number of accusations of child abuse and Munchausen by proxy that have been placed upon many parents of children struggling from the devastating symptoms of mitochondrial disease. Join us this month as we celebrate "International Mitochondrial Disease Awareness Week" across the globe and join efforts to improve awareness, acceptance and understanding of mitochondrial disease and the impact that the condition has on children and adults. Dr. Flores will discuss "Munchausen by proxy and the intestinal failure patient" and take a candid look at cases where children with mitochondrial disease and intestinal failure caused the family's ability to care for the child to be called into question. Dr. Flores will address the challenges that face both physicians and parents when caring for these patients. About the Speaker Dr. Alex Flores serves on the MitoAction Medical Advisory Board and iis Chief of Pediatric Gastroenterology and Nutrition, Floating Hospital for Children at Tufts Medical Center, and an Associate Professor at Tufts University School of Medicine. He is a graduate of the Universidad de San Carlos de Guatemala School of Medical Sciences, and received graduate training at Baylor College of Medicine, Children's Hospital Boston/Harvard Medical School, Duke University Medical Center, Hospital Militar, Jacaltenango Hospital, Roosevelt Hospital in Guatemala, and the World Health Organization-UNICEF. Dr. Flores is board certified in Pediatric Gastroenterology and Pediatrics and works closely with Dr. Mark Korson to support metabolic and mitochondrial patients with GI dysfunction. In addition to developing the LAPEG procedure, Dr. Flores' specialties include GI motility disorders, and general pediatric gastroenterology.