Our genetics impact us in many ways. You may have questions about your medical history, or your family’s medical history. Maybe your child has been diagnosed with a genetic condition or syndrome, or was born with a birth defect. If you or someone in your family has a health concern related to genetics, there is information and support. You are not alone.

Birth defects, genetic conditions, and genetic syndromes

Birth defects are most often diagnosed before or soon after birth. Birth defects often happen when there are changes in the genetic instructions that tell our bodies how to develop. Examples of birth defects include a missing arm, leg or kidney, abnormal heart development (called a congenital heart defect), and abnormal brain development. About 3 out of 100 babies born in Alberta each year will have a birth defect.

Genetic conditions are physical, developmental, or intellectual traits caused by changes to a person’s genes. Sometimes genetic conditions are inherited from parents and they often run in families. Having a genetic condition can also mean that a person has a higher risk for a certain health problem during their lifetime, but may never develop that health problem. This is referred to as a genetic predisposition.

A genetic syndrome refers to a group of traits that are often seen together. These may include differences in development, birth defects, developmental and learning differences, as well as future risk for related health concerns. An example of a genetic syndrome is Down syndrome (also called trisomy 21).

There are thousands of genetic conditions and birth defects and some are more common than others. For example, about 1 in 100 babies are born with a birth defect in their heart called a congenital heart defect. And 1 in 10,000 babies are born with phenylketonuria, a condition that causes too much phenylalanine (a building block of protein) in the blood. Some genetic conditions are also more common in people from certain ethnic backgrounds. For example, cystic fibrosis is more common in people of European ancestry and sickle cell disease in people of African ancestry.

We are all at risk for developing a genetic condition or having a child with a birth defect or genetic syndrome.

Rare genetic syndromes

Rare genetic syndromes affect a very small number of people compared to the general population. There are more than 7000 rare genetic syndromes. When we combine all these syndromes, about 1 in every 12 Albertans will have a friend or family member with a rare genetic syndrome.

Many rare genetic syndromes and birth defects can be found before or soon after a baby is born. Other rare genetic syndromes may not be diagnosed until early childhood, and sometimes it takes many appointments and tests to come up with the right answers. Some birth defects and genetic syndromes don’t show any symptoms until much later in life, such as adult heart defects or Huntington Disease.

You may go through many different feelings when a loved one doesn’t have a specific diagnosis or a known reason for their health concerns. This is sometimes called a diagnostic odyssey. Families may live their life waiting for a diagnosis. Some may never know what caused their genetic condition.

Knowledge is power

Learning about a genetic condition that affects you or a close loved one can cause fear and anxiety. Gathering information and learning about a genetic condition can help you adjust to a diagnosis, find better support for you and your family, and plan the healthcare you may need later in life.

If you, your child, or a loved one are at risk of developing or have a genetic condition, you will be referred to a genetics clinic that is part of the Clinical and Metabolic Genetics Program. The Program has experts in genetic diagnosis and genetic counselling, and serves Albertans of all ages.