MitoAction Expert Series

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."

Learn about current treatment options.

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.

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:

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.

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.

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.

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 for the treatment of acquired or inborn errors of mitochondrial energy metabolism and lactic acidosis. The prototype of this class, dichloroacetate (DCA), is undergoing clinical trials on the CRC in healthy subjects and in children and adults with congenital lactic acidosis. Its sites and mechanisms of action are being further explored by in vitro and in vivo laboratory studies employing cell and molecular techniques and mass spectrometry.

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.

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 trained in Pediatrics at the Massachusetts General Hospital for Children in Boston, Massachusetts.

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:

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.