MitoAction Expert Series

Dr. Richard Frye, MD PhD, Director of Autism Research and Associate Professor of Pediatrics at Arkansas Children's Hospital to discuss:

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!

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 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:

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.

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.

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?"

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.

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.

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?

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.