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Sample from Living Well with Mitochondrial Disease:
Introduction & Chapter Outline
Who Can Use this Book:
If you, your child, or someone in your life has been given a diagnosis of mitochondrial disease, consider this book a personal gift from a friend. Like an atlas you might receive before embarking on a world tour, this book is the roadmap for your journey. While we don’t know where this diagnosis will take us, we know that a pocket companion can be a compass when we are lost. This book is also your refreshment along the way, giving you positive encouragement and practical information to help you move forward. Living Well with Mitochondrial Disease will help you not only understand what it means to you or a loved one to have mitochondrial disease, but also change how you live by teaching you to manage symptoms, understand and implement recommended treatments, and overcome emotional challenges inherent to this complex diagnosis.
Mitochondria affect all of us by making the energy for our bodies to work and play. There are many people in a community that can benefit from knowing how to live with and understand mitochondrial disease. In particular, this guide will be especially useful for those who are directly affected by mitochondrial disease, including:parents of children with a mitochondrial disorder, including complex defects, mtDNA mutations, Mito-Autism, PDCD, POLG mutations, and abnormal mitochondria (such as depletions or deletions);
adult patients diagnosed with mitochondrial disorders, including those above as well as other types, such as MELAS and MERFF;
anyone—patient or caregiver—facing a suspected or potential mitochondrial disease diagnosis;
spouses of adult patients;
teens learning about and living with mitochondrial disease;
parents of children with autism (including ASD, Aspergers Syndrome, PDD, PDD-NOS) who also have “unexplained” medical issues;
mothers who are also symptomatic or have some symptoms but don’t have a true mitochondrial disease diagnosis;
fathers of children with mitochondrial disease, and men with family history of mitochondrial disease; and
family members, including siblings, grandparents, aunts, and uncles supporting a child or loved one dealing with the diagnosis.
In the same vein, think of all of the people who play a role in the everyday lives of those who are directly affected by Mito. This book is also very useful for:home health nurses, patient care aides, babysitters, and caregivers helping a person with suspected or diagnosed mitochondrial disease;
therapists, including physical therapists, occupational therapists, speech therapists, and developmental specialists;
school nurses, teachers, individual aids, and special education directors educating a child with mitochondrial disease;
family advocates and individuals involved in legislation and policy-making for genetic diseases; and
friends interested in helping a family struggling with the disease.
Finally, it should be noted that there are many individuals among us who are walking around with a misdiagnosis. Many of these children and adults may actually have mitochondrial disease that, due to the complexity of the diagnosis, has not been accurately identified. Consequently, this book is also useful for: adults with chronic fatigue syndrome, multiple sclerosis, muscular dystrophy, early-onset Alzheimer’s disease, or Parkinson’s;
adult patients, teens, spouses, and parents of children with a history of “unexplained,” “unrelated” health problems that are getting worse with time;
parents of children who are “failure to thrive,” developmentally delayed, very weak or tired, intolerant of heat and exercise, and who do not have a definitive diagnosis;
spouses of adults who suffered from strokes at a young age, deteriorating memory, and muscle weakness, all of which cannot be explained; and
anyone who suffers from unexplained fatigue, muscle weakness, exercise intolerance, and has unexplained “health issues,” such as severe constipation, migraine headaches, frequent nausea and vomiting, dizziness, vision or hearing loss, and pain.
How to Use this Book:
If you are confused or a little panicked by the diagnosis (or possible diagnosis) of mitochondrial disease, you are not alone! I have a few suggestions for you on how to approach the chapters in this book.
1) Go straight to the chapters most relevant to you. Are you or your child suffering from so many confusing and upsetting symptoms that you can barely make it through the day? Go straight to the chapters on symptom management (Chapter 5) and treatment (Chapter 4). On the other hand, perhaps you are the type of person who really needs to understand the big picture of what you are facing in order to be able to process it and move forward. You will benefit from the chapters that explain the biochemistry of mitochondrial disease (Chapters 1 and 10). Facing a muscle biopsy, or decision about diagnosis, in the immediate future? Get all the facts in the chapter on the journey to a diagnosis (Chapter 2). Fill your heart and your head with the information that you need to know, based on where you are in this process, first.
2) Once you feel more empowered by answering your most pertinent questions, step back and begin again at the beginning. Take time to read each chapter, as each is filled with patient stories, real examples, and practical tips and advice on top of the information consolidated by topic.
3) Use the glossary at the back of the book. The glossary is extremely comprehensive, and was written with careful attention to define medical terms in “plain English.” When you come across an unfamiliar word, take a second and go to the glossary.
4) Use this book as a reference. Keep it handy so that when new symptoms or issues arise, you can look them up. Share specific chapters with teachers, nurses, and clinicians as appropriate.
5) Take the examples and analogies in this book and use them to teach the people around you about mitochondrial disease, and what living with Mito means. Use the numerous examples of how mitochondria act as energy sources like batteries to help doctors, nurses, friends, therapists, teachers, legislators, and family learn about your life with Mito.
6) Prepare yourself for important appointments. If you can speak the same language as the doctors making decisions about your health, or as your child’s teacher and principal, you are so much better equipped to be able to move forward. Use this book as a crash-course or as a refresher before these meetings, just as you would prep by reviewing material before a test.
7) Remember to use this book as a pick-me-up as well as a resource guide. Living Well with Mitochondrial Disease was not written with the intention of being an impersonal textbook. Instead, this book was written tenderly, knowing that there are dark moments on the path when you or someone you care about has mitochondrial disease. This book should not only explain different aspects of the disease, it should also help you mentally and emotionally re-focus and recharge. When you need a pep talk, inspiration, and ideas about what you can do to start feeling better, go to this book.
What This Book Covers — Chapter Outline
Chapter 1: What is Mitochondrial Disease?
There exists a connection between mitochondria and virtually everything about life as we know and understand it. This chapter provides the basic answers to the questions we all have about mitochondrial disease, including what are the hallmark symptoms, who does it affect, what causes it, and why is it so hard to diagnose. Further, this chapter revisits high school biology to explain what our mitochondria do, i.e., what really happens from the time we eat our breakfast until it is converted into usable energy. Technical and confusing concepts of energy metabolism, including genetic inheritance patterns, oxidative phosphorylation, and the electron transport chain are explained in terms that make sense to lay readers. The mitochondria have long been understood to be the “powerhouses of the cell” but scientists are still uncovering the relationship between mitochondrial function, aging, and disease.
Chapter 2: The Journey to Diagnosis and Understanding the Causes
Misdiagnosis is very common with Mito. In fact, because the symptoms can affect so many body systems and be so perplexing, adult patients are often stereotyped as hypochondriacs and parents of children with Mito are often unfortunately scrutinized as child abusers. Diagnosis of mitochondrial disease is highly complex and involves a range of invasive and upsetting tests including MRI, multiple blood tests, and biopsies of the skin and muscle. Many readers may be waiting for a diagnosis or for test results, investigating a possible Mito diagnosis for themselves, their child, or their loved one, or have been assigned a “suspected” diagnosis based on their symptoms. Recommendations of the most efficient and effective methods in order to solidify a diagnosis are offered in detail. This chapter also examines various diagnostic techniques, and takes a detailed look at each test and what the findings may mean. It provides clear information on the existing classifications of mitochondrial disease and what they mean. Descriptive explanations of where and how mitochondrial defects occur help readers understand the “big picture” surrounding a diagnosis of mitochondrial disease.
Chapter 3: Accepting the Diagnosis and Learning to Live WELL with Mito
For adults, children, and caregivers, there is a natural tendency to be overwhelmed, frenetic even, when trying to understand volumes of complex test results while watching symptoms fluctuate out of control. This chapter puts you back on solid ground by providing practical tips that can be put to use right away and helps patients and families find their footing when they get lost. Patient stories in sidebars help demonstrate the spectrum of mitochondrial disease and show that “quality of life” is defined many different ways.
Chapter 4: Approaches to Treatment, Including Vitamins, Supplements, and Therapies
Pharmacists and physicians call the slurry of vitamins, amino acid supplements, and medical foods that are a recommended daily regimen for mitochondrial disease patients a “Mito cocktail.” The ingredients of the Mito cocktail vary depending on where the defect in the energy metabolism mechanism occurs (if it can be identified), and dosing is typically 1,000 to 10,000 times more than the recommended daily allowance for a healthy person. Dosing is very important, and each compound has unique properties that a patient should understand, especially when taking the supplements in hopes of slowing disease progression and stabilizing symptoms. Recommendations regarding therapeutic levels, how to take the Mito cocktail, tips for better absorption, possible side effects, how to have insurance cover the expense, and where to get the Mito cocktail, including helpful pharmacies and companies, are described in this chapter.
Chapter 5: Managing and Preventing Symptoms
Different expressions and related symptoms of each mitochondrial diagnosis are described at length in this chapter. The premise of “symptom management” is introduced, and teaches parents, patients, and caregivers the process of learning to recognize and identify symptoms. Home health teaching and advice helps patients and parents learn to watch blood pressure, heart rate, thirst, fatigue level, and fine motor coordination as part of a daily approach to maintaining an optimum baseline. Advice on energy management approaches during periods of illness or stress are outlined in detail, along with an explanation of how common colds, heat, infections, and stress affect the adult or child with mitochondrial disease differently than healthy individuals. This chapter also outlines important information regarding pre-op/post-op surgical protocol and a protocol for dehydration.
Chapter 6: Children & Teens with Mitochondrial Disease
This chapter gives parents the hope they need to face a devastating and complex medical diagnosis and survive in a medical community that is still learning about Mito, and that does not know how to serve their children. Stories and examples of real children and families help illustrate the various symptoms most common for children. Parents who struggle with finding “normal” for their child will appreciate the practical advice for approaching everything from feeding and keeping your baby well hydrated, to early intervention therapies, to school obstacles and IEPs, puberty, and well-meaning comments, such as “You must be such a wonderful mother/father to have a child like that.” Parents who have learned to guide their family with a loving heart and hope offer their stories as well as inspiration and insight into how a devastating diagnosis can actually be a blessing for your family.
Chapter 7: Adults with Mitochondrial Disease
Mito was once described as a pediatric condition, and many physicians are still slow to recognize the onset of adult mitochondrial disease. Adult patients are forced to be their own advocates, making difficult choices about keeping their jobs and caring for their families, finding insurance coverage and medical support, and keeping an optimistic attitude. Adult patients face some distinct challenges as well as some misconceptions. Patient vignettes and quotes add a degree of richness to this chapter and directly address the adult patient’s biggest complaint, “I am all alone.”
Chapter 8: Autism and Mitochondrial Disease: Special Challenges and the Diagnosis Debate
In the landmark 2008 case of Hannah Poling, the United States government conceded that nine-year-old Hannah’s autism-mitochondrial disease was triggered by the administration of multiple vaccines at her two-year-old checkup, and that the physiologic stress of the vaccines triggered her behavioral symptoms. Suddenly, thousands of parents of children with autism began to question if mitochondrial disease could be the root cause of their child’s autism. Subsequent clinical research studies, cohort studies, case studies, and expert opinions have brought further debate, along with an estimate that between 6-20 percent of children with autism also have a mitochondrial disease (which may or may not have been diagnosed yet).
This chapter outlines the history of the autism-mitochondrial disease connection, details the similarities as well as distinct differences between the two diagnoses independent of each other, addresses the vaccine debate, compares the DAN! Protocol with supplements commonly used to treat Mito, and includes personal stories from parents of children with this dual-diagnosis.
Chapter 9: Your Mito “Survival Kit”
“But you don’t look sick!” is what parents of affected children and adult patients often hear. Many adults and children with Mito defy every medical norm, and are subject to frequent life-threatening hospitalizations that make having a “normal” life impossible. How can parents and patients be advocates for themselves without falling into the abyss of depression and frustration? “Looking normal” is a constant challenge that parents and adult patients alike share as they try to navigate their world with a “low battery,” life-threatening symptoms, and no energy. This chapter will teach you to pack and plan head for daily obstacles, organize and keep up-to-date medical records, use a multi-disciplinary approach to treatment, make difficult decisions about things like moving and palliative care and hospice options, keep your perspective, and be an active participant in the Mito community.
Chapter 10: Mitochondrial Biochemistry
A more in-depth look at the science behind mitochondrial function, energy production, and the mitochondrial disease process is offered. The structure and function of the mitochondria are explored in detail in order to help the reader understand every reaction that occurs within the cell in order to make energy. Important components of energy metabolism are defined, including ATP, ADP, CoQ10, glucose, the electron transport chain complexes, and oxidative phosphorylation. Along with the biochemistry of mitochondrial function, the potential for mitochondrial defects, mitochondrial dysfunction, and ideas related to aging and slowing disease processes are described.
Note: In an effort to make the information in this book more readable, gender is alternated by chapter. Also, the names of people in the case studies have been changed to protect their identities.