Happy Memorial Day to everyone. Hope you are enjoying a nice, long, relaxing weekend!
We received test results back from IA City on Friday. Ethan tested positive for Oculocutaneous Albinism type I. So, what does that mean? This confirms the diagnosis that Dr. Drack has been suspecting is the cause of his eye problems. Of course no one wants to be told that their child has a "condition", but at the same time, we are very happy that we finally have an explanation for why his eyes are the way they are.
Albinism is an autosomal recessive disorder. This means that both Adam and I carry a recessive gene for albinism. Every child we have has a 1 in 4 chance of having albinism. Our siblings have a 50% chance of carrying the gene. One of each of our parents carries this gene as well (that's how it got passed on to us). We go back to IA City in August for another check up with Dr. Drack. She will talk with us in more detail about albinism at that appointment. Adam and I will also have our blood drawn to confirm that we are both carriers of the gene.
In the meantime, we've done some of our own research on albinism through Mayo Clinic and NOAH (National Organization for Albinism and Hypo-pigmentation). Here's a few facts about albinism:
-1 in 17,000 people in the US have some form of albinism
-People with albinism always have problems with vision. The degree of impairment varies from minor impairment to legally blind. Most are able to use their vision for common tasks including driving and reading and do not need to use braille.
-People with albinism may lack all pigment in their skin and hair while others have almost normal pigment. People with albinism are at a higher risk of developing skin cancers (bring on the SPF 80!)
-People with albinism live normal life spans and have the same types of general medical problems as the rest of the population. Albinos have a normal intellect.
Adam and I had very little knowledge about albinism before all of this (as I'm sure it true with the general population), and we are still in a learning phase. I think for most people, the word albino carries a negative or demeaning connotation out of lack of understanding of the condition. I'm sure there will be days in our future where Ethan is teased by some for his condition. I'm just very thankful he has a tough little brother who can stick up for him!
We will keep you updated as we gain more information on this. In the meantime, we are enjoying our summer!