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Rosemary Forrest

Rosemary Forrest

Augusta, Georgia

Rosemary Forrest is a writer with a background in journalism and science writing. She has written extensively on environmental subjects for the University of Georgia and has published in numerous newspapers and magazines. She has recently written a training manual for a national nonprofit and also has experience in grant-writing. She has undertaken this current work because her family was found to carry a genetic disorder that is rare and poorly understood, even in the medical community.

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Fatty Acid Oxidation Disorders and You

What They Are, How to Live with Them, and Where to Find Help

This guide for parents, physicians, and health professionals is the first book to address these disorders.

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Health, Fitness & Dieting science
45,000 words
100% complete
1 publisher interested

Fatty Acid Oxidation Disorders and You will be a reference book aimed at patients, their families, and general practitioners and pediatricians. It will encapsulate the most recent research on these disorders, list the medical centers that are studying them today and also provide resources for families. It will include stories from inside these families and give real-life solutions to the day-to-day problems faced by families struggling with one of these disorders. It will be accessible to the layman and provide first-level practitioners with an easy reference.

Currently, no such book exists. While each disorder is rare, taken together, as a class of disorders, there is a need for such a reference. Parents require a reference to which they may turn as new aspects of the disorders present themselves. Extended families frequently misunderstand these disorders and having a published work to which parents can refer them will give these parents more credibility as they must convince family, teachers, and friends to abide by the restrictions necessary.

The author has both the required experience in science writing, for the University of Georgia, and personal knowledge of fatty acid oxidation disorders - or FODs - as the gene for Carnitine Palmitoyltransferase II (CPT2) has expressed a misstep in the author's family. The author has worked as a journalist, grant writer, science writer, and is currently working freelance in her partial retirement. Additionally, the author has worked in nonprofits, public relations, and marketing.

Imagine having a seemingly healthy baby and within hours or days of that birth finding out that your child has a potentially deadly disorder so rare your doctor had to look it up before he could speak to you about it. Toss in the fact that this disorder is genetic and parents are plunged into a whirlwind of despair, guilt, and confusion. Now add in the infant's need to be fed every 2-3 hours or risk hypoglycemic shock or death and the parents are not only stricken but also fatigued beyond description.

This is the reality for many families struggling with Fatty Acid Oxidation Disorders, or FODs, such as MCADD, LCHAD, VLCHAD, CPT 1 and CPT2, and many others. Some may come to diagnosis later in life, but with increased use of newborn screening, these can be caught and treated early. Parents are rarely affected as these are autosomal-recessive disorders, meaning that each parent contributes only one-half the genetic material that creates the genetic misstep.

The result is a life-long challenge that affects nearly every cell in the body. The treatment varies according to which FOD a person has but all require diets that pay special attention to fats. Most FODs have only a decade or two of research and because FODs are rare, sample sizes tend to be small. Experts posit that many infant deaths formerly attributed to Sudden Infant Death Syndrome (SIDS) were actually due to undiagnosed FODs.

This is an ambitious undertaking but a much-needed one. Getting the right information into the right hands is critical to a good outcome. The book will be divided as follows:

Part I - Background

  • What are FODs? What effect does a FOD have on the body?
  • How many FODs are there?
  • How do they differ from each other? How are they similar?
  • Are they the same as mitochondrial disorders?
  • An explanation of the genetics behind FODs
  • A brief overview of the research to-date with an emphasis on the most current research

Part II -For parents learning that their infant or child has a FOD

  • What do you need to know immediately?
  • What tests are necessary for a diagnosis?
  • What resources are available to support you and your child?
  • What can you do if you feel your medical professional is not well-versed on your child's condition or you have other concerns that are not being addressed?
  • How can you educate your child's caregivers, teachers, and relatives about the importance of their diet and care?
  • Self-care for parents of FOD children and survival tips from the trenches
  • Formulas, breast-feeding, and the transition to solid foods
  • Colds, viruses, and other potentially deadly enemies
  • Managing physical stress, recognizing symptoms, and hospitalizations
  • Growing up FOD
  • Facing decisions in family planning, family activities, schooling and more

Part III - For individuals who have learned as older children or adults that they have a FOD

  • Finally, a diagnosis - the relief and the challenge
  • Other tests your medical professional may want to consider
  • What has to change in your life and what doesn't
  • Accommodating your need for rest and nutrition and adapting to the proper fats
  • What to tell your friends, co-workers, and boss
  • How others have managed to live full lives

Part IV - For medical professionals

A list of references to recent scholarly articles on each FOD as well as a brief description of each, as well as current treatment and preferred diets.
A list of resources they may give to patients for support
A sample protocol letter they may use as a template until the family has contact with a geneticist

Part V - Other Resources

On-going studies
Major medical centers that treat FODs

Interviews with affected individuals and families will be interwoven throughout all parts of the book as applicable.

There are no competing books on the topic. There are some that are academic and deal with specific FOD problems, such as Liver Metabolism and Fatty Liver Disease and Nutritional Management of Inherited Metabolic Diseases. Neither of these is a comprehensive work or readily accessible to the families. Both cost more than $100. A FOD support website is the main source of information currently for patients and families. The author is currently active on that website, which draws a global audience.

Proposed platforms include FaceBook, the author's blog, and the FOD support group. Also, as the author plans interviews with all the leading researchers and geneticists in this field, additional venues will open along medical lines.

This is Matt. He is one of a kind as he has a form of CPT2 that has not been previously identified or studied. Matt's first crisis occurred within hours of his birth and his newborn screen indicated presence of a FOD. It took months for the genetic tests to return the finding of CPT2. His first year was rocky with an additional crisis at 9 months but today he is doing well under the watchful eyes of his parents and doctors.

1 publisher interested
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  • Update #4 - To be published this summer! Feb. 8, 2017

    The book, now tentatively titled, Genetic Mistakes, Understanding and Living with Fatty Acid Oxidation Disorders, has been picked up for publication by Nova Science Publishers. …

  • Update #3 - Geneticists welcome new book Feb. 4, 2016

    Just to keep everyone updated on my book about fatty acid oxidation disorders, I wanted to let you all know that last week I attended …

  • Update #2 - A featured pick this week Dec. 9, 2015

    Fatty Acid Oxidation Disorders and You is featured this week in Reader's Picks on Publishizer. The research is ongoing. Thanks for your support!

  • Update #1 - Scientist to join author in work Dec. 3, 2015

    I have some good news! My daughter, who is a scientist currently working as a targeting specialist for HiRISE, the group that takes photos on …

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