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.
Gena
DS, age 11 and always amazing
“Autistics are the ultimate square pegs, and the problem with pounding a square peg into a round hole is not that the hammering is hard work. It's that you're destroying the peg." - Paul Collins, Not Even Wrong