Stanley Diamond is a man on a mission. In late 1993, he learned he carried a rare mutation of the Beta-Thalassemia trait, a genetic abnormality that can be fatal for a carrier’s children. If both parents are Beta-Thalassemia carriers, their children face a 25 percent chance of inheriting the trait in a form that causes death before adulthood. Though common among people of Mediterranean, Middle Eastern, Southeast Asian and African descent, the trait is rare among descendants of Eastern European Jews such as Diamond.
After his diagnosis, Diamond began an unrelenting search for other carriers of the trait within his family. With help from Polish archives, to date he’s identified 50 branches of his family that also carry the potentially fatal blood disorder. Diamond has been able to notify them of what tests to get and what results to look for.
Researching your own family medical history can help you and medical professionals protect your family’s health for generations. As many as half of all health problems may have a genetic component, passed down within families. According to the Mayo Clinic Health Letter, these include tendencies to heart disease, high blood pressure, diabetes, some cancers and certain psychiatric disorders.
Nine steps to a health history
Exploring your family’s health history is a lot like digging into genealogy. You still need to know who’s who and how they’re related. But you also need to discover hereditary health problems and causes of death. Here are nine steps to get started:
1. Interviewing — Start with your parents, siblings and their children. Then add data from and about grandparents, aunts, uncles and cousins. The more information you can gather, the better. Be sympathetic to and honor the need for privacy — requesting medical information requires diplomacy and sensitivity.
Some interviewing rules of thumb:
• Develop a list of questions and medical conditions you may be looking for.
• Focus on those branches and individuals who may be able to provide the key leads for expanding your search.
• Never assume anything. People often don’t know or can’t remember their exact medical condition. Check and double-check. Ask for permission to talk to family doctors or anyone who’s been involved with the family’s health. This is particularly relevant when tracking genetic traits that can be a potential disaster for future generations, since not all family members may recognize or accept the implications of the trait they carry.
• Enlist the help of others in the family — particularly family members who are doctors — and other medical professionals who understand and support your research.
Information on any medical ailment may prove useful. Pay special attention to serious conditions such as cancer, high blood pressure, heart disease, diabetes, depression and alcoholism. Be sure to also jot down your relative’s age when an illness was diagnosed.
2. Death certificates — An attending physician usually provides the primary cause of death and contributing factors on a death certificate. Ask your relatives about medical conditions, when the deceased first got sick, how long the illness lasted, the duration of the hospital stay, and so on. There could be more to the story than the death certificate indicates. For instance, my father’s death certificate gives his cause of death as “heart failure,” but he suffered from diabetes-related kidney failure and was on dialysis. You’ll also run across “old age” as a cause of death, which should lead you to ask more questions.
3. Obituaries — Carefully reading an obituary can help identify useful medical facts. Look for clues such as where to send donations, which may list a medical foundation. Don’t assume, however, that a specific foundation relates directly to the person’s illness.
4. Cemetery and funeral records — Using a map of Chicago’s Waldheim Cemetery, Stanley Diamond was able to locate the gravestones of two immigrant family members, first cousins who married each other. With the help of a cemetery staff member, Diamond contacted the man responsible for the graves’ perpetual care — who turned out to be his cousin, Alex, also diagnosed as a Beta-Thalassemia carrier. This breakthrough let Diamond trace the genesis of the trait back one more generation in Poland.
5. Mortality schedules — These will probably be helpful only if your family came to America before the massive wave of immigration that began about 1880. The federal government kept these lists between 1850 and 1885; they included information on cause of death for 12-month periods before each census (June 1-May 31,1849,1859,1869,1879, 1884), organized by state. Not all deaths are represented, but the schedules are worth consulting, especially if you have no other vital records. You can find them in state archives, the Daughters of the American Revolution Library in Washington, DC, the National Archives in Washington, DC, and the Family History Library in Salt Lake City and its Family History Centers.
6. Insurance records — As you rummage through family papers and interview relatives, note any information you may find about insurance policies and the insurance company. Though the information may be difficult to obtain, the company might hold more detailed medical facts worth a written inquiry.
7. Military service and pension records — Why might a family member have been rated “4F” in World War II? Did he receive any special compensation as a result of an injury? Checking service and pension records can be illuminating.
8. Hospital and doctor records — You may be able to get medical information if you know the name of a recently deceased family member’s physician and the hospital where he or she died. Many institutions keep records for seven to 10 years, but you may need special permission to access them. Even if this doesn’t apply to you right now, it’s a good idea to start keeping track of physician and hospital names associated with each family member. In Texas, for instance, medical record requests are guaranteed under state law, including access to records of deceased or incompetent patients; a parent, spouse or adult child making the request in writing must be accommodated.
9. Previous genetic testing results — Have any family members been tested before? If so, obtaining the results of those tests can be extremely helpful to your history.
Creating a medical pedigree
Once you’ve collected your family’s medical facts, you’ll need to organize and document your findings. Even if you’ve already put together your family’s genealogical pedigree, you’ll want to be able to present a “medical pedigree” to your health professional.
A medical pedigree uses standardized symbols to indicate gender and relationships (biological and non-biological, for instance). Names are not necessary and you generally don’t have to include more than three or four generations. It is important, though, to show brothers and sisters, who typically don’t show up on a standard genealogical pedigree. Charting your family’s medical conditions can help you and your doctor visualize the patterns that can sometimes get lost in lists of names, dates and places.
One format is the genogram, a popular clinical tool for assessing connections between family members and illness. Dr. Monica McGoldrick, co-author of Genograms: Assessment and Intervention (W.W Norton Co.), explains, “When there is a genogram in the medical record, the clinician can glance at it and get an immediate picture of the family and medical situation without wading through a stack of notes. Indication on the genogram of previous illnesses or symptom patterns may lead to early detection of a problem and preventive treatment of family members at risk.”
Several genealogy software programs also contain fields where you can input medical information. Family Tree Maker <www.familytreemaker.com>, for instance, allows you to document any individual’s medical information. Lifelinks <www.lifelinks.mb.ca> features a Family Medical History section and can print out a Family History Report that protects individual privacy. Another software program, Cyrillic 3 <www.cyrillicsoftware. com/products/cyril3.htm>, specializes in charting for medical purposes — it even calculates breast cancer risks.
The (deoxyribonucleic) acid test
Knowing your family medical history is important before undergoing genetic testing to learn more, says Dr. Doris Teichler Zallen, a genetics expert at Virginia Tech and author of Does It Run in the Family? A Consumer’s Guide to DNA Testing for Genetic Disorders (Rutgers University Press). “The health problems experienced by older family members may herald the kinds of health problems that younger members of the family may face,” says Zallen. “Layers of confusion may need to be penetrated before the real family medical history becomes clear and a pattern emerges that points to the possible involvement of a susceptibility gene.”
No one has a perfect collection of genes. We all have some mutations in our DNA — the deoxyribonucleic acid that stores our genetic information. Experts estimate that each of us has about eight genes where changes have occurred that could severely impair our health. But a change in DNA doesn’t necessarily translate into a genetic disorder. It depends on where the gene is located, what it does, and how well surrounding genes function.
In June, a massive academic scientific effort, The Human Genome Project, and a private project by the Celera Corp. jointly announced that they had achieved a “rough draft” of a map of the human DNA blueprint. “Genome” is a term used to describe the total genetic material contained in a full set of an organism’s chromosomes. In humans, the genome consists of two sets of 23 chromosomes, with each set containing 3 billion chemical units.
Genetic testing to look for flaws in a person’s genome generally falls into four categories:
• Direct testing can find specific mutations or alterations in the gene’s DNA.
• Linkage testing assesses the likelihood that a form of the gene has been inherited along with the “marker,” a reference point that distinguishes one DNA pattern from another.
• Susceptibility testing looks for a gene whose presence can increase the chances of developing a health problem later in life.
• Carrier testing, a very difficult process, is currently available for Tay-Sachs, Thalassemia, sickle cell disease and hemophilia.
Still got Grandma’s lock of hair or Grandpa’s pipe? Being able to provide samples of stored tissue or even tumors can help find a susceptibility gene, even if today’s DNA tests became available only after a person’s death. Stored tissue is critical if linkage testing is being considered in families where the affected members have died.
Genetic testing is done at three stages: prenatal, presymptomatic and premarital. Prenatal testing helps to find diseases that affect children, such as Tay-Sachs. Presymptomatic testing is conducted for conditions that predispose you to illness, such as prostate or breast cancer, because these diseases run in families. For instance, 5-10 percent of all breast cancer is inherited, meaning that one in every 200 women is at risk for an inherited form; testing is done for two different genes that account for 70-80 percent of these cases. Premarital testing is perhaps the most controversial but can help avoid potential problems and harmful family legacies.
Ultimately, according to Dr. Robert Desnick, chair of the Department of Human Genetics at Mt. Sinai Hospital in New York City, the ability to predict a genetic disorder may translate into the ability to prevent it.
As you learn more about your family’s genetic makeup, your information should be shared widely within your family and with your medical practitioners. “Directing family members to medical professionals who are trained to communicate the appropriate information is the responsibility of every family historian charting his or her family’s medical history,” says Diamond.
Diamond’s outreach efforts have turned up families other than his own who carry the Beta-Thalassemia trait among Eastern European Jews and other populations for whom it’s unusual. Some of these families have already launched their own programs to alert relatives to the potential dangers for future generations.
Reba Solomon of Plainview, NY, is one of those who contacted Diamond and followed his lead. She wrote family members, “We have just learned that a rare blood trait is carried genetically within our family, inherited either through Ephraim Presant or Faiga Gensil. Many of their children, grandchildren and great-grandchildren carry the trait of Beta-Thalassemia. This blood mutation is so rare, we are only the 13th European-Jewish family in the world to be identified with the trait.” She went on to urge them to check previous blood tests to determine likely carrier status.
“Knowledge is power,” says Phyllis Goldberg of Rockville, Md. When her grandson was born with Fanconi Anemia — a genetic disease associated with small stature, bone marrow failure, congenital malformations and a predisposition to leukemia — she vowed to locate every member of her family at risk. Goldberg believes she has traced the disease to her paternal great-grandparents from Austria-Hungary. She is now hoping to work within the Fanconi Anemia support community to find the mutation’s geographic roots.
Reaching out to others who share an affliction can give you support, comfort and information. More than 100 volunteer health organizations have been formed to raise awareness and raise funds for research, ranging from the Alzheimer’s Association to the United Parkinson’s Foundation.
Another useful activity is to enroll in a registry so genetic researchers can find you and your family. A registry collects information on families with a certain medical condition or genetic disorder. It keeps track of affected family members and those who are at risk. Several registries have Web sites; for example, the University of Texas M.D. Anderson Cancer Center runs a Familial Brain Tumor Registry <www.epigenetic.org> aimed at identifying families at high risk for brain tumors and multiple cancers. The Cleveland Clinic Cancer Center <www.ccf.org/cc/medgen/diseasereg.htm> offers the Familial Cancer Registry for families with breast, ovarian, prostate, colon and other cancers. Your medical professional can guide you to appropriate registries that focus on your family’s condition.
Often people wait for diagnosis of a serious illness to start asking questions about their family’s background. Don’t delay — you’ll be providing a great service to your family and the medical community.
It may even save your life. Nancy Sparks Morrison of Roanoke, Va., recalls tracking down her connection to the Melungeons, a people of Mediterranean descent who settled in the Appalachians in the 1500s. She discovered that the Melungeons are prone to a genetic ailment, Familial Mediterranean Fever. “If I had not found the Melungeon connection to my family, and thereby my inherited illness,” says Morrison, “I would be dead now.”
From the October 2000 issue of Family Tree Magazine