how many rare diseases have you heard of?

Rare diseases that don't seem that rare

February 28, 2018, the last day of the month, is designated as Rare Disease Day, which makes sense since the 29th day of February is rare, usually occurring only every four years. The definitions for rare diseases are different in other countries, but in America we classify them as diseases affecting fewer than 200,000 Americans at any one time. Eighty percent of these diseases are genetic and 50 percent affect children. Over 7,000 diseases fit these criteria and one in 10 Americans has a rare disease. Are you surprised?


Here are some of the diseases that are considered rare.

Addison’s Disease: This disease causes an insufficient number of certain hormones from the adrenal glands. It affects males and females and is treated with hormone replacement.

Albinism: This genetic condition reduces the amount of melanin pigment in the skin, hair, and eyes.

Cystic Fibrosis: This genetic disease affects the mucus producing cells in the lungs, pancreas, and other organs. The mucus, instead of being slick and easy to clear, is thick and sticky causing problems with breathing and digestion.

Genetic Sucrase-Isomaltase Deficiency (GSID): This disease is an intolerance to sucrose and starch and causes gas, bloating, and diarrhea after eating foods that contain sucrose or starch. Sucrose is refined white sugar, brown sugar, the sugar in carrots, the sugar in apples, maple syrup, coconut sugar, and even molasses. To find out more, visit

Hemophilia: Most have heard of this disease that affects the clotting ability of blood.

Huntington’s Disease: This disease causes the breakdown of nerve cells in the brain. It is genetic and, unlike most, is what we call autosomal dominant, meaning you can have the disease with only one copy of the defective gene.

Kawasaki Disease: This disease shows up in children one- to two-years-old and is rarely seen after age eight. It is a vascular disease and can cause some damage to the heart. It is easily treated and most times is not life-threatening.

Muscular Dystrophy: We see Jerry’s kids each Labor Day drawing awareness to this disease that causes disruption to the muscles that control movement.

Phenylketonuria: Most people have seen the warning on foods with aspartame stating “Phenylketonurics: contains phenylalanine.” Phenylalanine is an amino acid that cannot be digested and causes neurological issues.

Sickle Cell Anemia: This is a genetic disease of the red blood cells and results in crescent-shaped cells that cause them to be sticky, rigid, and unable to transport oxygen correctly, resulting in painful muscles and tissue damage.


So, how many did you know?

1-3       Novice; you definitely aren’t in healthcare.

4-7       Worldly; you’ve been out and about and heard some things.

8-10     Doctor in the making; you’re really up on your medical knowledge.