View Full Version : Rare Disease Day - Feb 28, 2011 (X-Post)

02-28-2011, 02:27 PM
(I posted this in the Lounge, but I it'll probably get buried there, so I'm cross-posting here.)

For the last few years, the last day of February has been internationally observed as Rare Disease Day. Rare diseases have a low prevalence and a high degree of complexity. Considered individually, rare diseases affect small numbers of people. Therefore many of these diseases do not attract much funding or attention. However in the US there are over 6,000 rare diseases - affecting a total of 30 million Americans.

Rare Disease Day sends the message that “Alone we are Rare. Together we are Strong.” It also tries to raise awareness, not just of the various diseases, but of the difficulties that families who are affected by these diseases may face in terms of obtaining treatment and health coverage.

The international website for Rare Disease Day: http://www.rarediseaseday.org/

The US website for Rare Disease Day: http://rarediseaseday.us/

The National Organization for Rare Diseases (NORD) is a US non-profit organization that serves as a federation of various health organizations serving people with rare diseases and as a national clearing house. NORD provides information about disease to doctors and patients, provides research grants, assists with advocacy, and provides medication assistance programs to needy patients. http://rarediseases.org/

If you or a loved one as a Rare Disease, please feel free to share your story in this thread.

02-28-2011, 02:28 PM
(Also cross-posted from the Lounge.)

Our story (OCA):

My son has both autism (which is not a rare disease) and Oculocutaneous Albinism or OCA (which is a rare disease). OCA is a rare genetic disorder that results in little or no pigment in the skin, hair, and eyes. There are several types of albinism, all caused by different mutations and which affect pigment production in various degrees. We believe DS has OCA2, which means his body does make a minimal amount of pigment. He has milky-white skin, yellowish hair, and light blue eyes.

Because pigment is necessary for the proper development of the eye structures and the optic nerve, albinism always involves some degree of visual impairment. My son is lucky in that his vision impairment is mild. He has extreme farsightedness and extreme astigmatism, but his vision is correctable to about 20/50. (Many people with albinism are legally blind, meaning their best corrected vision is not better than 20/200.) Additionally DS has little or no stereo vision – because his optic nerves are misrouted, his eyes do not work together properly. This also causes him to have exotropia (eye turning) and amblyopia (lazy eye). He also has transillumination defects of the iris (his irises do not block out light) causing him to have extreme sensitivity to sunlight and glare.

Albinism is a very misunderstood condition. Cultural ideas of albinism range from those that cause ridicule to those that are deadly. In the US, the popular culture of movies and books often make use of the “evil albino” stereotype. This portrayal greatly affects the self-esteem of children with this disorder. And I am amazed by how many people ask me if my son’s albinism is the result of either inbreeding or a mixed-race union. These difficulties and stereotypes, while disturbing, are minor compared to some other areas of the world. In parts of East Africa, people with albinism are sometimes killed because it is believed that their body parts have special powers. Several international organizations are fighting this atrocity.

For the most part, I consider albinism to be a minor problem for DS. He does have some visual impairment, but his difficulties due to albinism usually seem minor compared to the issues related to his autism. However recent events IRL (including the issue I posted about in the BP about the school nurse as well as some other incidents involving rude comments from strangers) have lead to me to realize that I need to spread awareness about albinism as well. Autism and albinism are both conditions that are part of my child’s identity. Neither one defines him, but both contribute to making him the extraordinary and unique person he is.