Cockayne syndrome (CS) is a rare disease that shortens the lives and causes premature aging of children. There are three different types of CS: types 1, 2 and 3–also called types A, B, and C. The biggest differences between the types is the severeness of each.
Type 1 (CS1) is considered the most common, or classic, of the three, with type 2 (CS2) less common and type 3 (CS3) the rarest of all. Both CS1 and CS3 don’t start developing until a year after birth and are practically the same, except type 3 is milder. Type 2 starts within the first year and is the most severe of the three.
People with any of the three types usually die young, especially with CS2. Life expectancy for CS1 ranges from 15 to into their thirties. However, life expectancy for CS2 is from 4 to 8 years old. Life expectancy for people with CS3 is into adulthood. People with CS3 are most likely to live longer than people with the other types. Most people with Cockayne syndrome don’t live past childhood, and most of the ones that do won’t live past their teen years.
All types of CS have the same symptoms, but doesn’t show immediately. Socialstyrelsen, the Swedish Information Center for Rare Diseases, stated that “Cockayne syndrome usually progresses slowly, with the symptoms increasing over a period of 10 to 20 years, sometimes longer.” This is usually the case for CS1 and CS3. However, Socialstyrelsen also pointed out in the same article that CS2 progresses more quickly because symptoms start showing sooner.
Symptoms for all three types can make CS hard to detect because they can be treated on their own and also because CS is rare. This makes diagnosis for CS harder, and even missed, because “because of the rarity of CS, its progressive nature, and the significant variability that exists between cases,” as Dr. Edward Neilan, a physician at the Boston’s Children’s Hospital and an instructor of pediatrics, stated on the Cockayne Syndrome Network site.
Delay in communication and intellectual development, premature aging, major eye problems and growth failure are just a few symptoms. Unfortunately, there is currently no cure for CS. There is also no treatment for it specifically, but there is treatment for individual symptoms. The current treatment for CS focuses on the symptoms individually to help make the person with CS more comfortable.
The good news is that there is research underway to find a cure. There are several places doing research, such as the the National Organization for Rare Diseases (NORD). There are also several places that provide medical information and research information, such as Wrong Diagnosis.
There are several foundations, such as the Abby Smith Foundation, and families that are raising money for the research. I know a family who has a member, Knox, with type 2 CS. This family, trying to raise funds for research, has started an online store to sell handmade items. All the profits go to the research to find a cure for CS. You can find their site here. If you want to know more about him and others like him you can start here.
This is why doing hard things matter. It doesn’t have to be big. You could help by either donating–either handmade items or money–buying items that will help fund CS research, or studying hard at college so that you could help find a cure.
To God be the glory,