General Information
Approximately how many Canadians are estimated to live with a rare disease?
A) 1 in 100
B) 1 in 50
C) 1 in 12
D) 1 in 2
What is 1 in 12 Canadians?
This genetic condition occurs when a person has an extra copy of chromosome 21.
What is Down syndrome?
The 2017 movie Wonder follows Auggie Pullman, a boy born with this rare genetic condition that affects the development of the bones and tissues of the face.
What is Treacher Collins syndrome?
A person who has one altered copy of a gene for an autosomal recessive disorder but usually does not have the disorder is known by this term.
What is a carrier?
Rare diseases do not affect many people overall.
What is myth?
Explanation: Although each condition is individually rare, hundreds of millions of people worldwide collectively live with rare diseases.
According to the definition commonly used in Canada, a disease is considered rare if it affects fewer than this many people out of every 2,000.
What is fewer than 1 in 2,000 people?
This genetic condition is associated with intellectual and developmental differences and gets its name from a “fragile” site on the X chromosome.
What is Fragile X syndrome?
In Five Feet Apart, the main characters must maintain physical distance because they both live with this genetic disease affecting the lungs and digestive system.
What is cystic fibrosis?
A person has three copies of one chromosome instead of the usual two. What is this genetic condition called?
What is trisomy?
All rare diseases are genetic.
What is myth?
Explanation: Around 80% of rare diseases are estimated to have a genetic origin, meaning not all rare diseases are genetic.
Approximately this percentage of rare diseases are estimated to begin during childhood.
What is 70%?
This rare neurodevelopmental disorder can cause children to lose previously acquired skills such as speech and purposeful hand movements and occurs primarily in girls.
What is Rett syndrome?
In the movie The Fundamentals of Caring, Trevor is a teenager living with this genetic disorder that causes progressive muscle weakness.
What is Duchenne muscular dystrophy?
If both parents are carriers of the same autosomal recessive disorder, each pregnancy has this percentage chance of producing a child who has the disorder.
What is 25%?
If a disorder is genetic, the disease-causing variant must have been inherited from one of the person’s parents.
What is myth?
Explanation: Some genetic variants arise for the first time in an individual rather than being inherited. These are called de novo mutations.
Approximately this percentage of rare disease treatments make it to Canada.
What is 60%?
This rare disorder literally means “smooth brain” and occurs when the normal folds and grooves of the brain do not develop properly before birth.
What is Lissencephaly?
Physicist Stephen Hawking lived for decades with this rare progressive neurological disease, also known as Lou Gehrig’s disease.
What is amyotrophic lateral sclerosis (ALS)?
A genetic disorder can be passed from an affected mother to her children but not from an affected father because the responsible DNA is located outside the nucleus. What type of inheritance is this?
What is mitochondrial inheritance?
A person can have a disease-causing genetic variant but never develop symptoms of the disorder associated with it.
What is fact?
Explanation: Some genetic variants have reduced penetrance, meaning not everyone who carries the variant will develop the associated condition.
People with rare diseases may spend years seeing different doctors, undergoing tests, and receiving incorrect diagnoses before finally receiving the correct one. This term describes that long journey.
Hint: Think of the famous ancient Greek story about Odysseus and his long journey home.
What is the diagnostic odyssey?
This rare neurodevelopmental disorder is associated with developmental delay, very limited speech, problems with balance and movement, and frequent smiling or laughter. Its name might make you think of something with a halo.
What is Angelman syndrome?
In an episode of House M.D., a patient is diagnosed with this rare genetic disorder that causes copper to build up in the body.
What is Wilson disease?
A person can have groups of cells with different genetic makeups within the same body. What is this phenomenon called?
What is mosaicism?
If a genetic test comes back negative, it always proves that a person’s condition is not genetic.
What is myth?
Explanation: Current genetic tests cannot detect every possible disease-causing genetic change, and some genetic causes have not yet been discovered.