Past Imperfect : How Tracing Your Family Medical History Can Save Your Life

Table of Contents

Foreword

Introduction

Chapter 1: Real People Facing Family Health Decisions

Chapter 2: Your Family – Your Best Resource

Chapter 3: Government Sources and Statistics

Chapter 4: Religious and Funeral Records

Chapter 5: Medical Records

Chapter 6: Libraries and Archives

Chapter 7: Creating a Family Health Tree

Chapter 8: Seeking Professional Help

Chapter 9: A Look into the Future

Glossary of Terms

Glossary of Genetic Diseases

Appendix A: National Archives and Branches

Appendix B: Vital Records

Appendix C: Libraries with Excellent Genealogical Collections

Appendix D: Genealogical and Historical Societies

Appendix E: National Genetic Voluntary Organizations

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Excerpts–Foreword & Introduction

Foreword
If unearthing your family medical history only made you aware of your ultimate fate, it would have limited value. The reality is that discovering your medical history can make a difference in your future. Many disorders have a genetic component, over which you have no control, as well as an “environmental” element, in which you do have a say. In other words, lifestyle can shift the scales and determine whether or not a genetic propensity toward a disease will become a reality. And in illnesses where heredity plays a larger role, awareness and early detection can have an enormous impact on the outcome.
At the very least, if you research your family medical history, you will become aware of some potential problems and can prepare yourself to deal with them. As a prenatal genetic counselor, I see many couples with a family history of multiple miscarriages. If you have a similar history, you may have a 1 in 20 chance of having a child with birth defects and mental retardation. A blood test can tell you if you are at an increased risk, and if you are, then you may want to have genetic testing during your pregnancy or choose other options for having children.
Past Imperfect is a step-by-step guide to the ins and outs of tracing your family medical history. Carol Daus’s expert advice ranges from hints on how to broach this potentially sensitive subject with your relatives to what information can be gleaned from cemeteries! Past Imperfect has the unusual distinction of being not only an excellent reference manual on both genetics and genealogy, but it is also a book that is interesting and enjoyable to sit down and read from start to finish. Her examples of real-life families poignantly illustrate the value of undertaking this pursuit. She then does much of the legwork for you, by providing myriad phone numbers, addresses, and even websites in the appendices. There is also a superb compendium of common genetic disorders, including a wealth of information on inheritance, treatment, and prevention.
Following are examples of how Past Imperfect can play a significant role in not only your health, but the health of your entire family:

• If realizing that adult-onset diabetes runs in your family gives you the incentive to improve your diet and adopt an exercise program, then these actions may delay the onset of the disease or prevent it altogether!
• Twenty-five to fifty percent of patients with bipolar disorder (manic depression) attempt suicide once, and 19% of manic-depressive patients die due to suicide. The peak age of onset of this illness is in the 15-19 age range. So, if you discover that your relatives suffer from this disorder, keep a close eye on your teenagers and don’t delay in getting treatment at the first signs.
• Response to medications can also be an inherited tendency. For instance, if depression runs in your family and it took five attempts to get the correct prescription that finally helped your mother, find out which medications had unpleasant side effects and which one did the trick.
• Alternatively, you may be reassured that you have escaped the malady present in your ancestors based on the inheritance pattern of the disease. A patient of mine whose uncle had suffered from hemophilia was relieved to know that his own children were no more at risk than mine to be born with this potentially serious ailment.
Every week we are discovering the locations of a growing number of genes, new tests are being developed, and we are solving the mysteries of inherited diseases. Genetic information can be very complex, and the issues surrounding inherited disorders can often be clouded by questions of guilt, blame and simply incorrect information. Nearly every day, I listen to how my patients have dealt with the imperfect past of their families: One mother informed me that her daughter’s thalassemia was from “the other side of the family.” (Thalassemia, in fact, is always inherited from both the mother and the father.) Again and again I hear that a niece or nephew was born with a cleft lip or a heart defect because “his father used drugs in the ’70s” (not a possible cause of these conditions).
Another of my patients told me recently that he was not concerned about a strong family history of manic depression because, “it only affects the women in my family.” (Actually, that was by chance, since manic depression affects males and females equally.) And then there was the expectant father who was mildly affected with type 1 neurofibromatosis who was not aware that, even within the same family, this disease, for unknown reasons, can strike some members very severely, even causing cancer, while others escape with only freckles in the armpit region. Each of his children faces 50-50 odds of inheriting the faulty gene from him.
For these reasons, if you have any questions or concerns, as Past Imperfect states so clearly, it’s important to meet with your doctor or a genetics professional. He or she will analyze your family tree and then provide an individualized risk assessment for you and your children. Genetic testing may be offered, or referrals or recommendations will be tailored to your specific needs.
And now, Carol Daus will be your guide as you embark on an adventure that will, at the least, be fun and enlightening, and may even save your life!
Jeanne Homer, M.S.
Genetic Counselor

Introduction
Ever since Alex Haley’s book Roots was published in the 1970s, genealogy—the process of tracing your family roots—has become an intriguing hobby for many Americans. Millions of people have spent large amounts of time and money tracing their family histories to learn more about specific ancestors. This isn’t surprising, given the fascination for investigating one’s bloodlines. We’ve all thought about the possibility of finding a famous individual in our family tree. Maybe a famous politician or scientist or even a king!
But besides helping you learn whether your distant ancestor was George Washington or King Louis IX, genealogy also plays a critical role in helping you uncover your family medical history. Nearly every detail of your physical makeup and the way your body chemistry operates is determined by your genes—which have been passed down to you from the dawn of human history.
The words genealogy and genetics spring from the same linguistic root, seen in the Latin words genus (meaning “birth” or “descent”) and gens (meaning “clan” or “race”). The genealogist and geneticist both set out to accomplish a similar task: finding patterns in our family relationships. Both also help us understand how we’ve developed into the person we are today, as well as who we will be tomorrow.

It’s in the Genes
Whether we want to be or not, we’re all byproducts of our biological parents—not to mention our grandparents, great-grandparents, and even more distant relatives. That’s why we all frequently find ourselves thinking, “It must be in the genes.” Whether it’s your newborn’s blue eyes that resemble her dad’s, your mother’s outgoing personality that reminds you of your grandfather’s, or the high metabolism you inherited from your mother that allows you to eat twice as much as your friend, there’s no question that we can draw many similarities between ourselves and our relatives. And if you talk to enough relatives, you’ll usually discover a number of other physical characteristics and personality traits that clearly could be labeled genetic.
But aside from these most obvious hereditary traits, a closer look at your family history can reveal critical information about your present and future health. It has been proven that many of the illnesses and conditions that beset us can be predicted, diagnosed, and even prevented by studying our own family trees. As a result, increasing numbers of physicians and other health professionals recommend the need for developing thorough family health histories by tracing lineage back three or four generations.
You can’t pick your genes, but knowing your family medical history can often alert you early enough to prevent a disease or minimize its effect. More than three thousand of the ten thousand known diseases and conditions have a strong hereditary component. For many years it has been known that heart disease, diabetes, hypertension, sickle cell anemia, and Huntington’s chorea all have a genetic link. Recent research has also confirmed that genetics has an impact on Alzheimer’sdisease, multiple sclerosis, peptic ulcers, schizophrenia, depression, breast and colon cancer, retinoblastoma, and Duchenne muscular dystrophy. One startling research study even showed that children whose fathers are alcoholics are almost four times as likely to become alcoholics.
Some may think that when it comes to studying genetically caused diseases, ignorance is bliss. But it’s important to remember that what you might learn in the process could actually result in better health for you and your family. It may also be of help to future generations. By understanding the genetic connection to diseases, couples contemplating having a baby can learn about the risk of having a child with a medical problem. Genetic testing both prior to and after conception gives expectant parents vital information regarding the health of their unborn baby.

Solving the Mysteries of Disease
There’s another important reason for studying family health histories. If enough family trees become available for study, scientists could identify the genetic factors involved in the transmission of diseases like cancer and schizophrenia. Such a breakthrough could finally solve the mysteries of many illnesses and lead to effective new ways of preventing and treating them. In fact, mutations or changes in genes that bring about or increase the risk of certain diseases have already been identified, and in some cases genetic tests are now available that will tell you if you have that specific mutation.
The ultimate hope is that by understanding genes, specific treatments could be used to correct genetic illnesses in people who have inherited a flawed gene. By the end of 1996, nearly two hundred experiments testing various types of human gene therapy were under way in the United States. By the year 2005, scientists are expected to have mapped the entire sequence of the genetic code. This $10 billion Human Genome Project, which started in 1990 and was coordinated by the National Institute of Health (NIH), uses computerized and automated gene-mapping techniques to decipher the complex patterns of human genes. It will be many years before they know the functions of those eighty thousand genes, but ways to take advantage of this information are already being developed. It has been said that within a few decades people who feel ill will go to physician-geneticists who will run DNA scans to check the relevant genes, make diagnoses, and prescribe drugs for specific genetic needs.

Your Family Health Tree
By developing your own family health tree, you can often determine what your own risk is of developing a disease based on whether your ancestors had that same disease. The best way to record information about your family health history is to create a genogram—a graphical depiction of your relationship with your ancestors—which goes back at least three generations. A genogram (an example is shown in Figure 2, on p. XX) can reveal patterns of particular illnesses or conditions—for instance, diabetes or high blood pressure—occurring in your immediate family. It can also provide otherwise unobtainable clues for the diagnosis of illnesses. This information may enable you to prevent these illnesses years before they strike.
It’s unfortunate that many of the worst diseases we suffer from are transmitted genetically. But the good news is that an accurate, detailed family tree is one of the best insurance policies you can have against illness—for yourself and your children. By knowing which illnesses you especially need to watch out for, you can take positive steps to prevent them or minimize their effect.
You will be amazed by how easy it is to construct a family health tree. The key to developing a detailed genogram that you can share with your physician is knowing where to look for information about your ancestors’ health. Here’s where genealogy comes into play. A wide array of information—ranging from easily obtainable government records to harder-to-find private documents—is available to anyone interested in researching their family medical history. This book will show you precisely how to access and interpret this vital information.

Climbing Your Family Tree
As you create your genogram, you may start to notice patterns for specific diseases. If one of your family members has high blood pressure, it could be an isolated case. If several have had high blood pressure, you and your physician may want to analyze this more closely. If they all developed the disease at about the same age—or at a younger-than-expected age—this deserves special attention.
While recording data, it is important to consider the severity of the disease, the age of onset, and the lifestyle of the relative. For example, if your father was a vegetarian and marathon runner who was diagnosed with colon cancer at age 45 despite a healthy lifestyle, there’s a good chance that genetics played a hand. If, however, he was a junk food fanatic whose only exercise consisted of getting up from the La-Z-Boy to go to the refrigerator, and he was diagnosed in his 70s, then genetics may not have been involved. Genetic counselors can help you understand the risks associated with specific illnesses and conditions.
Some medical conditions among relatives may seem random or unrelated. However, closer inspection may reveal a pattern that raises a family from average-risk to increased-risk categories. Consider cancer-syndrome families. A grandmother may have died at a young age in childbirth, but it is the three great-aunts who died of breast or ovarian cancer whose medical records would be essential for female family members who are assessing their own risks and treatment options. Information on male relatives is equally useful, even in “one sex” diseases. For example, genes that have been found for breast and ovarian cancers are not on the female sex chromosome; rather, they are on chromosomes that come from both parents. In other words, a woman can inherit a gene that increases her risk for ovarian or breast cancer from her father.

How to Use This Book
When it comes to starting a family medical search, there is no better time than the present, especially since important older relatives are still alive and can remember details about their ancestors’ lives and deaths. As you uncover information about your medical legacy, you’ll also discover many interesting details about your family history, particularly if you’ve never conducted any genealogical research. Everybody has some fascinating ancestors in their past, hiding in the shadows of time—people whose genes are in your body now, shaping you physically, mentally, emotionally, and socially. Researching your family medical history will also help you learn more about your ancestry.
The information in this book is organized to take you step-by-step through the process of tracing your family medical history. First, we will begin with how to go about interviewing and researching your living family members. Then we’ll look at how to access public and private records to learn all about your ancestors. Chapter 3 covers government sources and statistics. Chapter 4 provides information on religious and funeral records. Chapter 5 offers an overview of how to locate medical records, such as hospital and doctor’s reports and insurance records, which often provide the most descriptive information about illnesses and medical conditions. Chapter 6 gives a detailed listing of libraries and archives that provide myriad resources for both amateur and advanced genealogists.
In chapter 7, you’ll learn how to take all of your research and create a family health tree. Finally, chapter 8 discusses what a doctor or genetic counselor can do for you now that you have assembled your family medical history. The book closes with a look into the future of genetics.
You will find the glossaries and appendices to be an invaluable resource. The Glossary of Terms will help you understand the various terms used throughout the book. The Glossary of Genetic Diseases presents an overview of the most common genetic diseases and what you can do to help prevent the onset of a disease to which you might be susceptible. The appendices provide phone numbers and addresses of hundreds of private and public organizations to aid you as you conduct your research.
So how do you get started? What is considered a genetic illness? How do you create a genogram? What should be included? Where do you get the information? How can this information protect your family’s health, now and in the future? Read on, and you will become an expert in tracing your family medical history! But before we begin, let’s visit with some real people who took constructive steps after learning that they or their immediate family members had a genetic disorder.

© 1999 Santa Monica Press LLC