International Metabolic Conference

Dr. Georgianne Arnold

Dr. Arnold graduated from Indiana University with degrees in Biology and Chemistry. She has a Master’s Degree in Medical Genetics from Indiana University-Purdue University at Indianapolis and graduated from medical […]

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Speaker Schedule

Saturday, July 22

10:30am – Main Presentation: FAOD Through the Ages: Focusing on the Teen Years: The teen years are an important time of transition between childhood, where disease management is parentally directed, to adulthood, where (hopefully) it is self-directed. This presentation will focus on the unique concerns in transitioning into adulthood with a FAOD.

2:30pm – Alternate Session Presentation: Understanding MCADD: This session will seek to de-mystify MCADD, and update on the latest findings and recommendations

4:30pm – Clinician Panel

Dr. Melanie Gillingham

Dr. Melanie Gillingham’s research in the Department of Molecular and Medical Genetics has focused on various novel therapies for fatty acid oxidation disorders. For 20 years, Dr. Gillingham and her […]

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Speaker Schedule

Saturday, July 23

9:30am – Ketones: for All FAODs: Ketones are an alternative source of energy generated during periods of fasting from fatty acid oxidation in the liver. Patients with all FAODs have low ketones during fasting because of the block in FAO in the liver. Consuming ketones orally might be a treatment strategy that would be effective for all patients with FAODs. We conducted a study of the effects of oral ketones on exercise performance and the results of that study will be presented.

3:30pm – Teen Roundtable: Join us as we discuss challenges and strategies to manage a low fat healthy diet with teens attending the conference.

4:30pm – Clinician Panel

Sunday, July 23

1:15pm – FAODs through the ages: Learning from our adult FAODs: This session will be a moderated question and answer time with our young adult/adult FAOD patients. Dr. Vockley and Dr. Gillingham will moderate this session together to provide insights and stories, together with our young adult/ adult FAODs, about life tips, thoughts and experiances of living with an FAOD.

3:00pm – Clinician Panel

Dr. Mark Korson

Dr. Mark Korson graduated in medicine from the University of Toronto and completed a pediatric residency at Toronto’s Hospital for Sick Children, followed by a genetics/metabolism fellowship at Boston’s Children’s […]

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Speaker Schedule

Saturday, July 23

1:30pm – Main Session Presentation: A Visit to the Hospital by an FAOD Patient: An Annotated Analysis: Patients with acute metabolic disorders (such as fatty acid oxidation defects) may experience episodic clinical and biochemical decompensation, triggering a visit to the hospital emergency department and possible admission to hospital. The many chapters of this journey are annotated with pathophysiological perspectives and practical ED care perspectives and analyzed. Suggestions and recommendations will be provided during this presentation to address the medical and social-operational challenges.

Dr. Peter McGuire

Dr. Peter McGuire received his bachelor’s in psychology from Villanova University, a master’s in microbiology and immunology from New York Medical College, and a M.B.B.Ch. with honors (equivalent to an […]

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Speaker Schedule

Saturday, July 22

3:30pm – Roundtable: GA II/Undiagnosed: Unique battles: Dr. Larson and Dr. McGuire will discuss cases in which patients have been identified due to abnormal acylcarnitine profiles suggestive of glutaric acidemia type 2, also known as multiple acyl coA dehydrogenase deficiency.

Sunday, July 23

10:15am – Main Presentation: Infection

3:00pm – Clinician Panel

Dr. Pamela Tucker

Following her undergraduate studies at Duke University, Pamela Tucker obtained her Doctor of Physical Therapy degree from Franklin Pierce University. Her clinical experience includes the management of outpatient and inpatient […]

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Speaker Schedule

Saturday, July 22

3:30pm – Roundtable: How Physical Therapy can help FAODs: Join Dr. Pamela Tucker in a discussion of what you do in PT, why/how it can be helpful, various approaches, and how to work with your/your child’s physical therapist to make sure that you are not doing too much and end up in rhabdo.

Sunday, July 23

8:30am – Considerations for Rhabdomyolysis and Return to Activity for FAODs Rhabdomyolysis is a serious and potentially life-threatening condition resulting from muscle injury. Patients with fatty acid oxidation disorders present with an increased risk of recurrence of this condition, as well as a potentially prolonged or complicated recovery. This presentation will review the pathology of rhabdomyolysis, risk factors and activities to avoid, as well as a gradual return-to-activity guideline to assist patients recovering from this condition.

3:00pm – Clinician Panel

Dr. Jerry Vockley

Dr. Vockley received his undergraduate degree at Carnegie-Mellon University in Pittsburgh, Pennsylvania, and received his degree in Medicine and Genetics from the University of Pennsylvania School of Medicine in Philadelphia, […]

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Speaker Schedule

Friday, July 21

4:15pm – Main Session Presentation: Community Updates and INFORM: Understanding the Big Picture: A discussion of the interactions of community interactions with clinicians and researchers in fatty acid oxidation, including the International Network on Fatty Acid Oxidation Research and Management

5:45pm – Teen Roundtable: Sit with Dr. Jerry Vockley and enjoy the opportunity to ask questions about living with your FAOD.

Saturday, July 22

4:30pm – Clinician Panel

Sunday, July 23

1:15pm – FAODs through the ages: Learning from our adult FAODs: This session will be a moderated question and answer time with our young adult/adult FAOD patients. Dr. Vockley and Dr. Gillingham will moderate this session together to provide insights and stories, together with our young adult/ adult FAODs, about life tips, thoughts and experiances of living with an FAOD.

3:00pm – Clinician Panel

Sommer Gaughan

Sommer Gaughan, RD, is a Registered Dietitian, who has been in clinical practice for 21 years. Over 15 of those years have been dedicated to inborn errors of metabolism at […]

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Speaker Schedule

Saturday, July 22

10:30am – Alternate Session Roundtable: Navigating a New Diagnosis: Join Metabolic Dietitian Sommer Gaughen, Certified Genetic Counselor Leighann Sermba and other parents of newly diagnosed patients for an open, back and forth discussion about navigating daily life with a new diagnosis. This open forum provides an opportunity to learn from others while gaining support from each other.

3:30pm – Roundtable: Barriers to Following a Medical Care Plan: Join a Metabolic Dietitian to discuss the ups and downs of following a medical care plan everyday. Learn strategies, tips and tricks from other parents and caregivers who have overcome these barriers.

Sunday, July 23

9:30am – Alternate Session Roundtable: Exploring Healthy Eating for MCAD Deficiency and Your Family: Join a Metabolic Dietitian for an open discussion about what a “heart healthy” diet means. Learn tips and tricks for incorporating heart healthy foods into your family’s daily diet.

3:00pm – Clinician Panel

Dr. Kathryn Chatfield

Dr. Chatfield is an Associate Professor of Pediatrics, Cardiology, University of Colorado School of Medicine and the Director of the Cardiac Genetics Clinic. Her degrees are from the Geisel School […]

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Speaker Schedule

Saturday, July 22

2:30pm – Cardiac Implications and LC-FAODs

4:30pm – Clinician Panel

Dr. Aaina Koacchar

Dr. Kochhar is a Board Certified Clinical and Biochemical Geneticist. She trained at Mayo Clinic, Minnesota and Stanford University, California and has been in practice for the last 10 years. […]

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Speaker Schedule

Saturday, July 22

8:30am – Main Session Presentation: FAOD Through the Ages: Focusing on Infancy through elementary School: Biochemical basis of FAOD, with relevant age based changes, as the body matures physiologically. Guidelines for Medical management of FAODs. Principles and challenges of daily management of FAOD.

Dr. Austin Larson

Dr. Larson is board certified in pediatrics, medical genetics and biochemical genetics. His clinical interests include mitochondrial diseases, congenital disorders of glycosylation, ocular genetics and rural outreach. He is an […]

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Speaker Schedule

Saturday, July 22

Roundtable Discussion: GAII/Undiagnosed: Unique battles: Dr. Larson and Dr. McGuire will discuss cases in which patients have been identified due to abnormal acylcarnitine profiles suggestive of glutaric acidemia type 2, also known as multiple acyl coA dehydrogenase deficiency.

Sunday, July 23

9:30am – Main Session Presentation: FAOD: Adjunctive Management Strategies: Dr. Larson will discuss the rationale for adjunctive management strategies for fatty acid oxidation disorders such as dietary considerations, use of exogenous ketones and exercise strategies.

3:00pm – Clinician Panel

Becky Sansbury

Becky Sansbury, M.Div., specializes in crisis care for individuals and organizations. After serving as a hospice chaplain for fourteen years, she published After the Shock: Getting You Back on The […]

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Speaker Schedule

Saturday, July 22

11:30am – Main Session Presentation: More than a Massage Self-care for the Long Haul: Living with an FAOD is doable, but not simple. Like any chronic condition, it often keeps the patient and caregiver on a physical and emotional roller coaster, which can be draining. What keeps you going when the simplistic suggestions for self-care are not enough? Here is a chance to create your own nourishing self-care recipe.

3:30pm – Roundtable Discussion: Putting Self-Care to Work: Catchy phrases and clever concepts are entertaining at a conference, but how do we put that material to work when we get home?

4:30pm – Clinician Panel

Michelle Cincotti

I became a nurse for my son Jake Bray after he was very sick for the first few years of life with LCHAD. Feeling helpless as a non-medical parent, I […]

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Speaker Schedule

Saturday, July 22

1:30pm – Main Session Presentation: A Visit to the Hospital by an FAOD Patient: An Annotated Analysis: Patients with acute metabolic disorders (such as fatty acid oxidation defects) may experience episodic clinical and biochemical decompensation, triggering a visit to the hospital emergency department and possible admission to hospital. The many chapters of this journey are annotated with pathophysiological perspectives and practical ED care perspectives and analyzed. Suggestions and recommendations will be provided during this presentation to address the medical and social-operational challenges.

Tasia Rechisky

Tasia Rechisky is a patient, rare disease advocate and writer. Living for the past 30 years with a rare fatty acid oxidation disorder (FAOD) called VLCADD (very long chain acyl-coa […]

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Speaker Schedule

Saturday, July 22

8:30am – Alternate Session Presentation: Adulting with an FAOD: Transitioning into adulthood is hard, but add an FAOD on top of that and it can become overwhelming. Come to this session to discuss transition and tools to manage an FAOD as an adult, with growing responsibilities and obligations. Join Tasia as she discusses maintaining your health, keeping stress down while choosing a college/starting a career, and exploring relationships. Although adult relationships grow more complex, exploring these crucial conversations with other FAOD young adults/adults is great place to glean tools for the journey and feel supported.

3:30pm – Round table Discussion: How to build a career that considers your interest and your health: Don’t ever let your FAOD get in the way of your hopes and dreams for your life, but there are considerations that others don’t have such as physical impact and cost of care for a rare disease. Balancing between your health and your interest can be difficult but with a plan and the drive, it can be done.