Orlando, Florida ~ October 3, 2002

For all of those that were unable to attend our Conference this past October, we have provided either summaries, handouts, or powerpoint slides (Please note ~ some of the slide presentations are large files and may take several minutes to open) from our Speaker presentations, as well as brief professional biographies.

Our turnout this year was great and we hope that our next Conference in approximately 18 months will have an even larger attendance!

I want to personally THANK Drs Roe, Korson and Winter, and Lynne Wolfe and Cris Trahms for sharing their expertise and knowledge of FODs and related family issues. Families came away from this Conference with ALOT to think about, as well as having the opportunity to connect with other Families dealing with many similar issues. It was definitely a WIN~WIN situation for all!

Our 2002 Speakers

Mark Korson
Conference Talk
The Physiology of Fasting and Fatty Acid Oxidation Defects (PDF)

Mark Korson, MD

Dr. Korson obtained his medical school degree at the University of Toronto in 1982. He completed a pediatric residency at The Hospital for Sick Children in Toronto, followed by a fellowship in genetics and metabolism at Children’s Hospital in Boston. He was director of the Metabolism Clinic at Children’s Hospital from 1990-2000. Currently, he is Associate Chief of Metabolism at Tufts-New England Medical Center, and Associate Professor of Pediatrics at Tufts University School of Medicine.

Dr. Korson’s clinical interests include exploration of the clinical, biochemical and molecular aspects of the inborn errors of metabolism, creating mechanisms in the community for health care maintenance for these patients (especially long distance care), and developing teaching methods for training physicians, residents and medical students about genetic metabolic diseases.

Charles R. Roe
Conference Talk
Anaplerotic Diet Therapy for Human Disease (PDF)
Click here for more info on Dr. Roe’s Study

Charles R. Roe, MD

Dr. Roe’s primary research interest is in the field of inherited metabolic defects involving mitochondria fat oxidation and branched-chain amino acid degradation. He was trained at Duke University Medical Center, where he obtained his M.D. degree and completed both his residency in pediatrics and a fellowship in metabolic disease.

Dr. Roe received two additional years of training in the Department of Biochemistry at Brandies University. During his fellowship training, he developed the creatine kinase MB enzyme test for the recognition of acute heart attacks. This method became a gold standard for diagnosis worldwide. He applied this methodology to the design of treatment strategies that could protect the heart from injury during cardiac surgery. For these accomplishments, he was awarded the title of Fellow, American College of Cardiology. Subsequently, as the Chief of the Division of Genetics and Metabolism at Duke Medical Center, he created its first major mass spectrometry facility in pediatrics.

He became internationally recognized for his role in the development of tandem mass spectrometry analysis of acylcarnitines and for his descriptions of new genetic disorders. As a clinical investigator, his contributions focused on nutritional approaches to inherited diseases, development of new diagnostic technology, and development of new treatment strategies. He is generally regarded as a world expert in the field of mitochondria fat oxidation disorders.

Finally, with his many American, European, and Asian colleagues, he is developing a unique program at Baylor that includes active collaborative investigations and training at the Institute. Dr. Roe, the Medical Director of the IMD at BUMC, specializes in disorders affecting the breakdown of fatty acids and amino acids. His research has produced a system in which the entire pathway involving many enzymes can be studied in living cells to determine which enzymes are defective. This system, which has essentially replaced the need for individual enzyme assays for many of the disorders, has produced excellent applications for diagnosis before or after birth and has been applied successfully in characterizing previously unknown inherited defects. Children with these disorders often exhibit decreases in blood sugar, cardiomyopathy, hypotonia, or any combination of these presenting symptoms.

His research, using the same system, determines other pathways available for more normal metabolism, to allow successful nutrition and clinical management. Dr. Roe’s research has demonstrated that certain nutrients thought to be especially useful for premature infants and children affected with inherited disorders are not optimal and has led to the discovery of substitutes to support these children more efficiently.

This remarkable treatment strategy is designed to circumvent the inherited block in the pathway. Sponsorship is being sought for the development of a new “orphan” product to benefit children with inherited disorders as well as to provide improved management of premature infants.

Cris Trahms
Conference Talk
Proactive Parenting and Self-Managment Skills (PDF)

Cris Trahms, MS, RD, CD, FADA

Cris is a Lecturer in the Division of Genetics and Development of the Department of Pediatrics at the University of Washington in Seattle. She is also Director of Nutrition Services at the Center on Human Development and Disability and Program Director of the PKU Clinical Program. She is an Inaugural Fellow of the American Dietetic Association and the recipient of the 2001 American Dietetic Association Award for Excellence in the Practice of Clinical Nutrition. Cris has many publications.

She is the editor/author of Cristine M Trahms and Peggy L Pipes, Nutrition In Infancy and Childhood,6th edition, WCB/McGraw-Hill, 1997. Recent articles include: Sarah N Letos, Cristine M Trahms, Betty Lucas, and Judith A Powell wrote ‘Maternal and child health nutrition training builds leadership skills’ which appeared in the Journal of the American Dietetic Association in May 2001. This article describes the outcome measures for the long-term interdisciplinary nutrition-training program at the CHDD. Gail M Kieckhefer and Cristine M Trahmswrote ‘Supporting development of children with chronic conditions: From compliance toward shared management’ which appeared in Pediatric Nursing in August 2000. This article has been selected as the winner of the Pediatric Nursing ‘Excellence in Writing Award for 2000’ and describes a parenting leadership model for teaching self-management skills to children with chronic health conditions.

In collaboration with MCHB and CDC, Cris developed three web-based modules on ‘Growth Chart Training.’ These are: Accurately weighing and measuring infants, children and adolescents: 1) Equipment, 2) Technique, and 3) Developing and rating your technique. These modules can be found on the CDC Web site at: http://www.cdc.gov/growthcharts. Cris has presented many talks on pediatric nutrition, health, and growth.

Recent presentations include Pediatric Grand Rounds at the Children’s Hospital and Medical Center, 23rd Annual Pacific Northwest Conference for Primary Care Practitioners, the American Dietetic Association Annual Meeting in St. Louis, the Washington State WIC Educators Conference, A.S.P.E.N. Nutrition Week in San Diego, Texas MCH and PKU Workshop, Gaucher Health Advocates Meeting in Denver, and the NDI Foundation Global Conference, 2002 in The Netherlands. Each summer Cris and colleague, Betty Lucas, co-teach the intensive pediatric nutrition training conference ‘Assuring Pediatric Nutrition in the Hospital and Community.’

Susan Winter
Conference Talk 
Use of Carnitine in FODs (PDF)
Conference Talk 
Use of Carnitine in FODs (View in HTML)
Click here for more info on Carnitine Treatment for FODs

Susan Winter, MD

Dr. Winter has been the Medical Director of Medical Genetics/Metabolism at Children’s Hospital Central California for 22 years. Her academic appointment is Clinical Professor of Pediatrics at the University of California, San Francisco. She is a graduate of the University of Alberta Medical School and training programs in Pediatrics, Genetics and Metabolism at the Hospital for Sick Children in Toronto, Ontario.

Research interests have been in treatment of inborn errors of metabolism with particular interest in the use of carnitine for organic acidurias and fatty acid oxidation defects. Dr. Winter is the mother of 2 children, Laura (20 yrs) and Jeffrey (21 yrs).

Lynne A. Wolfe
Conference Talk
Push Me/Pull You: How to get the Information and Resources you need for your Child (PDF)

Lynne A. Wolfe, MS, ACNP, PNP, BC

Lynne is a Metabolic Nurse Practitioner who has worked in private practice at Ann-Marie’s Clinic in rural Vermont, as well as for HCS Community Care in Keene, NH. As of Sept 9, 2002, however, she took a new position as the Metabolic Nurse Practitioner/FOD Study Coordinator at the Institute of Metabolic Disease at Baylor University in Dallas. She has been a nurse for nearly 20 years and a Nurse Practitioner for nearly 7 years.

She has strong Pediatric Critical Care and Neurology background as a Staff Nurse. She used her interest in Pediatrics Neurology and Genetics, to focus on learning about children with all types of Chronic Illness and Disabilities while studying for her Master’s and Post Master’s degrees at the University of Rochester in Rochester, NY. She also completed a Neurodevelopmental Disabilities Fellowship through the Leadership and Excellence in Neurodevelopmental Disabilities (LEND) Grant Program sponsored by the University of New Hampshire in 1998.

She has worked with Neurometabolic and patients with Genetic Syndromes for the last 5 years. While at Ann-Marie’s Clinic and HCS Community Care, her practice focused on supporting children and families to obtain Home Care and appropriate Educational Services. She also consults and provides Educational Presentations to all types of Community-based agencies that work with families and children with Special Health Needs.

She has special interests in Organic Acidemias and Fatty Acid Oxidation Disorders. For this Conference, Lynne was sponsored by Ann-Marie’s Clinic.

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