Why Your Family’sHealth History Matters

Jeannie McMacken

Bainbridge Island Genealogy Society

July 29, 2005

National Family History Day

Genetics

From the forward and preface of

Spencer Wells’“The Journey of Man:”

About 60,000 years ago a man--identical to us in all important respects-lived in Africa. EVERY person alive today is descended from him.

The secrets about are ancestors are hidden in our genetic code. We now know not only where our ancestors lived, but who they fought, loved and influenced. We now know that there really was an Adam & Eve, but that Eve predated Adam by about 80,000 years. We can now trace the male Y-chromosome from Africa into Eurasia, and know why differing racial types emerged when mountain ranges split population groups. We also know that the San Bushmen of the Kalahari have some of the oldest genetic markers in the world. We also know, with absolute certainty, that Neanderthals are NOT our ancestors, and the the entire genetic diversity of Native Americans can be accounted for by just ten individuals.

Our DNA carries a historical document stretching back to the origin of life and the first self-replicating molecules. We are the end result of over a billion years of evolutionary tinkering.

It is not the code itself that delivers the message, but rather the difference we see when we compare DNA from two or more individuals.

Mapping the Human Genome

46 Human Chromosomes

• 22 pairs of autosomal chromosomes

• 2 sex chromosomes - X & Y

• 3 billion base pairs of DNA containing 30,000 to 40,000 protein-coding genes

Over the past 10 years, mapping has provided a way to order the

genes within the genome.

Identification of about 100 disease genes.

Most genetic disorders are the result of a genetic mutation in

one gene.

However, it has been found that some diseases have multiple

mutations.

So far, research has shown that multiple mutations

are responsible for:

• Diabetes

• Cancer

• Asthma

• Mental Illness

• Alzheimer’s Disease

It is likely that a number of genes may each make a subtle

contribution to a person’s susceptibility to a disease.

Genes may also influencehow a person reacts to environmental factors.

Alzheimer’s Disease

• Twice as common in females

• Runs in families

• Mutation in four genes

• Relationship between mutations and how environmental factors could affect susceptibility

Parkinson’s Disease

• Originally thought not to be inherited

• Research has focused on environmental risk factors such as a viral infection or a neurotoxin

• Mutation on Chromosome 4 in families

Huntington’s Disease

• Inherited neurodegenerative brain disorder• Everyone who carries the gene gets the

disease• Child of a person who has HD has

50% chance of developing disease• Members of the same family may exhibit

different symptoms• Over 250,000 “at-risk” Americans

Famous People

Woody GuthrieHuntington’s Disease

• Mother was institutionalized, thought to be insane

• Woody misdiagnosed several times

• Passed the gene on to two female children

Abraham LincolnMarfan Syndrome

• Connective tissue disorder

• Characteristics include unusually long limbs

• Each family has its own unique mutation

• 50% chance of passing it along

Stephen HawkingAmyotrophic Lateral Sclerosis

• ALS is a progressive neurodegenerative disease

• Familial ALS is caused by a mutation on Chromosome 21; affects small number of families

• Most cases are not hereditary

• Cause is unknown

What does this haveto do with me?

By charting illnesses experienced by your parents, grandparents and

other blood relatives, you can help your doctor predict your risk

of developing certain diseases.

Genealogists are in a great position to document this

information.

What should you look for?

Families that sharegenes often share:

• Environment

• Lifestyle

• Behavior

Environment

• Libby, Montana: 1920-1990 • Exposure to vermiculite contaminated with

asbestos

• 200 locations• Mortality rates 40x higher than rest of MT, 100x

higher than U.S.• Lung cancer, mesothelioma, asbestos-related

illnesses

Environment

• Niagara Falls, New York: 1942-1978

• “Love Canal” municipal & chemical disposal site, principally used by Hooker Chemical

• 42 million pounds of “toxic chemicals” were dumped at the site

• 800 homes, 240 apts, and 3 schools built during the 50’s-70’s in center of landfill and surrounding areas

• Odds of residents developing cancer: 1 in 10• 11 of 36 residents tested positive for chromosome

damage

Environment

• Crescent, Oklahoma: 1974• Kerr-McGee plutonium fuels production plant• Employee exposure to plutonium

• Karen Silkwood• Her autopsy showed high levels in lungs

• Found negligent in maintaining plant safety• Investigating a number of unexplained exposures

to plutonium

Environment

• Hinckley, California: 1965-1987

• Pacific Gas & Electric Co. Gas Compressor Station

• Erin Brockovitch

• Dumping 370 million gallons of hexavalent chromium into unlined ponds

• Levels were 10x greater than acceptable

• Cancer, lung damage & respiratory problems

Lifestyle

• High fat diets – cancers

• Fast food diet (sugars) – diabetes

• Inactivity – “Couch Potato” lifestyle

• No P.E. in schools

Behavior

• Smoking – personal risk plus second-hand risk of lung problems and disease

• Drug use – potential damage to heart, brain• Drinking (cultural) – liver problems• Sunbathing (cultural) – melanoma

Who should I investigate in myfamily tree?

Most Important

• Parents

• Siblings

• Your children

Also Important

• Grandparents

• Aunts and Uncles

• Nieces and Nephews

• Half-brothers and Half-sisters

Extra Credit

• First Cousins

• Great Uncles and Great Aunts

According to the U.S. Dept.of Health and Human Services,

what is the most important question you can ask about

your ancestors?

A: What is their ethnic background?

There is an expanding database linking ethnicity with increased

risk for certain diseases.

Ethnic Diseases

• Ashkenazi Jews: Gaucher, Tay-Sachs

• African Americans: Sickle Cell Anemia

• Mediterranean: Thalassemia

• Central Europeans: Cystic Fibrosis

Here are some questions to ask your relatives:

• What illnesses, conditions, surgeries did they have and at what age?

• What was the exact diagnosis in each case?

• How old were they when the illness began?

• How old were they when they died?

• When did they die; what was (were) the cause(s) of death?

• Did they smoke, drink excessively or abuse drugs?

• Is there a history of mental illness or unusual personality traits or habits?

• Number of pregnancies of your female relatives. What were the outcomes:live birth, miscarriage, multiples?

• Where did they live and what was their occupation?

The Royal North Shore Hospital’s Genetic Education Program in Sidney, Australia

considers the following “conditions of interest”

when constructing aFamily Health History:

• Alcoholism or drug dependency

• Birth defects: heart defects, cleft lip or palate, spina bifida

• Cancers: bowel, breast, colon, lung, melanoma, ovarian, stomach

• Cardiovascular disorders: high blood pressure, heart disease, high cholesterol

• Diabetes• Eye disorders: blindness, cataracts, glaucoma,

retinitis pigmentosa

• Kidney or liver disease

• Muscular or skeletal disorders: short stature or dwarfism, muscular dystrophy, rheumatoid arthritis, osteoarthritis, osteoporosis

• Neurological or psychiatric disorders: Huntington’s disease, epilepsy, manic-depressive, schizophrenia, Alzheimer’s disease

• Respiratory disorders: asthma, allergies, emphysema

• Skin disorders: psoriasis, moles, eczema

• Hearing disorders

Why are these conditions so important?

Because side effects and response to treatments can be influenced

by genetic factors and could cause concern.

Red Flags

High Risk

• Premature disease in a 1st-degree relative

• Premature disease in a 2nd-degree relative (coronary artery disease only)

• Two affected 1st-degree relatives

• One 1st-degree relative with late or unknown disease onset and an affected 2nd-degree relative with premature disease from the same lineage

• Two 2nd-degree maternal or paternal relatives with at least one having premature onset of disease

• Three or more affected maternal or paternal relatives

• Presence of a “moderate risk” family history on both sides of the pedigree

Moderate Risk

• One 1st-degree relative with late or unknown onset of disease

• Two 2nd-degree relatives from the same lineage with late or unknown disease onset

Average Risk

• No affected relatives

• Only one affected 2nd-degree relative from one or both sides of the pedigree

• No known family history

• Adopted person with unknown family history

Now that I know whatto look for, where do I find

the information?

• Individuals. Talk to them and record the information.

• Relatives. Maybe they don’t know the exact cause of death, but they might have some clues as to contributing illnesses.

• Death Certificates

• Newspaper Obits

• Federal Military Pension Files

• Mortality Schedules – listing the names of people who died before June 1 of the year in which the federal population schedules were compiled.

• Insurance Applications

• Military Records

• Immigration Forms

• Published local histories and family genealogies

• Church records

• Cemetery records

• Funeral home records

• Biographical articles

• Check local histories for information on epidemics

• Old photos contain clues

• Midwife and physician’s records

• Family bibles, diaries and correspondence

Defective, Dependent & Delinquent Schedule 1880

• Idiots

• Insane

• Deaf Mutes

• Blind

• Homeless Children in an institution, including illegitimate

• Prison Inmates

• Paupers & the Indigent in institutions, poorhouses, asylums (many were insane)

Over time, disease names have changed.

• Apoplexy

• Bad Blood

• Blood Poisoning

• Bright’s Disease

• Consumption

• Cretinism

• Dropsy

• Fatty Liver

• Glandular Fever

• Grippe

• Jail Fever

• Apoplexy

• Bad Blood

• Blood Poisoning

• Bright’s Disease

• Consumption

• Cretinism

• Dropsy

• Fatty Liver

• Glandular Fever

• Grippe

• Jail Fever

• Stroke

• Syphilis

• Septicemia

• Glomerulonephritis

• Tuberculosis

• Hypothyroidism

• Congestive Heart Failure

• Cirrhosis

• Mononucleosis

• Influenza (1918)

• Typhus

• Lock jaw

• Lung fever

• Lung sickness

• Black death

• Podagra

• Pott’s disease

• Quinsy

• Scrofula

• Toxemia (pregnancy)

• Addison’s Disease

• Lock jaw

• Lung fever

• Lung sickness

• Black death

• Podagra

• Pott’s disease

• Quinsy

• Scrofula

• Toxemia (pregnancy)

• Addison’s Disease

• Tetanus

• Pneumonia

• Tuberculosis

• Bubonic plague

• Gout

• TB of the spinal vertebrae

• Streptococcal tonsillitis

• TB of the neck lymph nodes

• Eclampsia

• Anemia/kidney disease

• Carditis/ Myocarditis

• Catarrh

• Chorea/St. Vitus’ Dance

• Consumption

• Diphtheria

• Grave’s Disease

• Inanition

• La Grippe

• Lues

• Marsmus

• Membranous Croup

• Carditis/ Myocarditis

• Catarrh

• Chorea/St. Vitus’ Dance

• Consumption

• Diphtheria

• Grave’s Disease

• Inanition

• La Grippe

• Lues

• Marsmus

• Membranous Croup

• Heart disease

• Bronchial inflammation

• Any nervous disorder

• Tuberculosis - wasting away

• Infection/infected milk

• Thyroid Gland

• Inability to assimilate food

• Flu

• Syphilis

• Progressive emaciation

• Blocked trachea/coughing

• Milksick

• Neurasthenia

• Pott’s Disease

• Quinsy

• Septicemia

• Summer Complaint

• Typhoid Fever

• Milksick

• Neurasthenia

• Pott’s Disease

• Quinsy

• Septicemia

• Summer Complaint

• Typhoid Fever

• Milk poisoning/cows

• Neurotic condition

• Curvature of the spine

• Severe tonsilitis

• Blood poisoning

• Dysentery

• From unsanitary food or milk.

Jill Fresonke, N.D.

Island Wellness Center

Bainbridge Island