Rare Disease Quiz

Staff

What is considered a "rare" disease?

The United States uses the less-than-200,000 definition.

How many rare diseases are there?

The National Institutes of Health estimates about 6,800 rare diseases.

What is another name for rare diseases?

Many drugs used to treat rare diseases are also called orphan drugs.

When was the last time a rare disease was discovered?

Just because they're rare doesn't mean there isn't quite a few of them.

What are most rare diseases caused by?

Most rare conditions are caused by a genetic mutation, although environmental factors can also cause or affect rare diseases.

How many genes are in a human cell?

That's a lot of genetic material that can mutate.

A third of people with rare diseases take how long to get a diagnosis?

That's an extremely long time to live with a anonymous disease.

Why are rare diseases and drugs nicknamed "orphans?"

Devastatingly, medicines that could potentially help or cure rare diseases were denied funding or access because the cost was prohibitive to profit.

What did the 1983 Orphan Drug Act do?

A lot more folks were given access to drugs.

From 1973 to 1983, how many orphan drugs were developed with government assistance?

A frighteningly low number

After 1983, how many drugs have been developed?

Which have the potential to treat 13 million Americans.

Let's jump into some rare diseases to discover more about them. Speaking of jumping, what is the name of one rare disease?

The disease causes an extreme startle response and was named because it affected some lumberjacks in Maine and Quebec.

Some rare diseases are ones you actually might be familiar with. Which is NOT a rare disease?

Both cystic fibrosis and Lou Gehrig's are considered rare diseases.

While we think of cancer as a common disease, there are many forms of rare cancers. What is one?

Only 1 percent of cancer diagnoses are ovarian cancer.

Name the (real) rare disease.

PLMT is an extremely painful and rare disorder.

What cuddly acronym is given to a very not-cuddly rare disease?

Pediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcal Infections (PANDAS) causes or worsens obsessive compulsion or tics in children after a strep infection.

What is another rare disease with a provocative name?

Wandering spleen occurs when the spleen is not held in place by the normal ligaments.

Let's see how good we are at medical terms. What is the clinical name when one of the blood vessels that supplies blood to the brain doesn't develop?

Internal carotid (or blood vessel in the neck) agenesis (a failure for something to develop)

Some rare diseases affect disparate parts of the body. What is one disease that causes abnormalities in different regions?

A very rare condition, it affects the fingers, feet and can cause a variety of genital and urinary tract abnormalities.

Hantavirus is caused by what?

Unlike a lot of rare diseases, hantavirus is a respiratory disease caused by environmental contact.

What is one rare disease named, due to an abnormality that gives the iris a "keyhole" appearance?

Although not everyone with the syndrome presents ocular abnormalities.

Parry Romberg syndrome causes what?

No one is certain what causes the syndrome.

Autosomal dominant hyper IgE syndrome (AD-HIES) causes blisters, rashes and scaling of the skin. What was it formerly called?

Named from Job in the Old Testament, who was tested with boils.

Kinky hair disease is now called Menkes disease, but it led to sparse, kinky hair. What caused it?

While it is genetic, there is some evidence that copper treatment might improve prognosis.

Proteus syndrome causes what?

Named after the shape-changing sea god of Greek mythology.

Gigantism is caused by:

A non-cancerous tumor at the pituitary gland often causes the excessive growth hormones.

It has been speculated that Abraham Lincoln suffered from what rare disease?

While Marfan is a disorder of the connective tissue, MEN2B is a cancer-causing genetic disorder that causes bone overgrowth.

Cold urticaria causes what?

Cold air or water can cause itchy rash or hives, or even swelling of the throat or tongue.

Rapid aging is seen in the rare disease:

Progeria causes extremely fast aging that causes premature death in children and teens.

To raise awareness about rare diseases, the National Institutes of Health sponsors:

The last day in February every year, the day includes information and presentations to raise the profile of rare diseases and the people who live with them.

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Image: refer to hsw

About This Quiz

While each rare disease only affects a small number of people itself, rare diseases as a whole are a serious threat to public health. Learn a little about some diseases that may not get big headlines, but present global problems.

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