Resources

Useful resources for you and your patients

Case Studies

A series of published FAOD case studies and case reports

Two adolescent female cases presented with episodes of rhabdomyolysis and muscle weakness

VLCAD

Topçu Y, Bayram E, Karaoğlu P, Yis U, and Kurul SH. Importance of acylcarnitine profile analysis for disorders of lipid metabolism in adolescent patients with recurrent rhabdomyolysis: Report of two cases Ann Indian Acad Neurol. 2014;17(4):437-440.

A 42-year-old woman who presented with a 2-year history of attacks of rhabdomyolysis and stiffness

VLCAD

Smelt AHM, Poorthuis BJHM, Onkenhout IW, Scholte HR, Andresen BS, van Duinen SG, Gregersen N, and Wintzen AR.Very Long Chain Acyl-Coenzyme A Dehydrogenase Deficiency with Adult Onset. Annals of Neurology. 1998;43(4):540-544.

Downloadable Resources

Resources that may provide additional insight and support for you, your patients, and their parents and caregivers

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LC-FAOD Fast Facts

A comprehensive overview of LC-FAOD: underlying defects, inheritance, manifestations, diagnosis, guidance on genetic counseling, and patient support*

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Mechanism of disease brochure

Long-chain fatty acid oxidation disorder mechanism of disease content in print form

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Sponsored genetic testing overview

Learn about a program providing no-charge testing for eligible patients suspected to have an LC-FAOD

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Sponsored genetic testing requisition form

Download a printable test requisition form to order sponsored LC-FAOD genetic testing for eligible patients

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Understanding LC-FAOD

Help your patients and their caregivers learn about the causes, impact, and signs and symptoms of LC-FAOD

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LC-FAOD Fast Facts for Patients

An educational booklet for patients and caregivers on the science behind LC-FAOD and the healthcare professionals who may be their team*

Not part of the LC-FAOD Patient Resource Toolkit.

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Welcome!

An overview of what you can expect to learn in the following documents about the long-chain fatty acid oxidation disorders to help your patients.

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LC-FAOD Life Transition Booklet: Infant & Children (ages 0 to 9 years)

Help the caregivers of your infant and early childhood patients learn what to expect with LC-FAOD

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LC-FAOD Life Transition Booklet: Preteen & Teen (ages 10 to 17 years)

Help your preteen and teen patients learn what to expect with LC-FAOD

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LC-FAOD Life Transition Booklet: Young Adult & Beyond (age 18+ years)

Help your young adult patients learn what to expect with LC-FAOD as they transition to adulthood

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Living Well While Caring for Someone With LC-FAOD

Information on how to prepare caregivers of a child with LC-FAOD and access the help and support they need

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Crafting Your Story

Guidance for patients and caregivers as they think about how to tell their LC-FAOD story

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Share Your Rare Journey

Advice on how and where patients and caregivers can share their experience to create a better understanding of LC-FAOD

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Building Your Support Network

Help patients and caregivers connect with organizations that understand their experiences and challenges

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Communicating With Healthcare Providers

Advice and tips on how patients and caregivers can create a better partnership with their healthcare team

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Medical History

A template that patients and caregivers can use to record their LC-FAOD stories, list important contact information, and note symptoms and medications

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*This resource is an independent publication developed by S. Karger Publishers Limited and provided as a service to medicine. Supported by an educational grant from Ultragenyx Pharmaceutical Inc.

Patient ADVOCACY AT ULTRAGENYX

At Ultragenyx, the patient advocacy team is passionate about educating and supporting patients, families, and caregivers affected by rare and ultrarare diseases. Find valuable resources, hear from others who live with rare diseases, and learn more about our commitment to the rare disease patient community.

UNMET NEEDS IN LC-FAOD

There remains an unmet clinical need in LC-FAOD. Many patients experience lifestyle limitations, as well as significant morbidities and life-threatening complications.

Reference

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