Tuesday, May 12, 2009

My Mission for Albinism to be Correctly Understood

I'm creating this blog for my beautiful daughter Carrah Reese, my CareBear. She was dianosed with Albinism when she was almost four months old. It is a genetic disorder that is caused by a defect of Melanin, that produces little to no pigmentation. It affects 1 in 17,000 people all over the world. No particular nationality is at risk. It can happen to anyone anywhere that BOTH parents carry the Recessive Gene. Everyone with Albinism will have some form of Visual Impairment to varying degrees. They will neither be automatically Deaf nor Disabled.

My daughter has Oculocutaneous Albinism. We are not sure which form yet, but we could see a Genetecist to determine that.

This is what NOAH says of the Genetics of Albinism:

The genes for OCA are located on “autosomal” chromosomes. Autosomes are the chromosomes that contain genes for our general body characteristics, contrasted to the sex chromosomes. We normally have two copies of these chromosomes and the genes on them – one inherited from our father, the other inherited from our mother. Neither of these gene copies is functional in people with albinism. However, albinism is a “recessive trait”, so even if only one of the two copies of the OCA gene is functional, a person can make pigment, but will carry the albinism trait. Both parents must carry a defective OCA gene to have a child with albinism. When both parents carry the defective gene (and neither parent has albinism) there is a one in four chance at each pregnancy that the baby will be born with albinism. This type of inheritance is called “autosomal recessive” inheritance.

Ocular albinism (OA1) is caused by a genetic defect of the GPR143 gene that plays a signaling role that is especially important to pigmentation in the eye. OA1 follows a simpler pattern of inheritance because the gene for OA1 is on the X chromosome. Females have two copies of the X chromosome while males have only one copy (and a Y chromosome that makes them male). To have ocular albinism, a male only needs to inherit one defective copy of the gene for ocular albinism from his carrier mother. Therefore almost all of the people with OA1 are males. Indeed, parents should be suspicious if a female child is said to have ocular albinism.

My Goal {taken from my home blog}:

I had no clue what Albinism was before Carrah was diagnosed. Yes I had seen pictures, heard stories, watched television shows that portayed Albinism, but none of those things were accurate. It pains me to see these Hollywood writers, producers, directors and whomever else paint such a incorrect picture of the beautiful community of people with Albinsim.

Some may say that i'm overreacting and that you cannot change the movies. They tell many untruths on television and the big screen, but this one hits close to home. My baby girl deserves the best! She deserves for people to be educated and know the truth rather than only hearing the lies and misinterpretations. It should be something that is more studied and learned about. Her pediatrician and my own doctor didn't have half a clue as to what Albinsim really was. That is unacceptable! They are doctors! This should be something that is studied and known.

I want the truth out there so that people who hear the word Albinism associate it with what it really is. A defect of melanin, which results in little or no pigmentation. And that it comes from a recessive gene in BOTH parents. It is not something that is life threatening, it does not make her weird or a mutant, it does not mean she will be deaf or have learning disabilities, it is simply a lack of pigmentation in her eyes, skin, and hair

There is so much information that I want to share. I will do the majority of it through posts, but I will also try to set up some pages and links on my sidebars with helpful information.

Please do what you can to spread the correct information about Albinism. Stop the hurtful judgements. This is what Albinism really is.

One Week Old
Six Months Old

3 comments:

Casey May 12, 2009 at 10:43 PM  

What a great idea for a blog! My blog was originally set up for this purpose but I then started talking about everything in my life, at the time I was new to the blogging world and had no idea I could just set up two!

Anyways, I think this is a great idea especially as a fellow albinism momma! You daughter is adorable and I look forward to more of your blog!

Cassi May 24, 2009 at 12:10 AM  

I just stumbled upon your blog and I wanted to welcome you to the albinism/mommy blogging world! You have a beautiful daughter and I love your bow idea. I have two sons with albinism and my second son, Fionn, was also born in October of last year. (www.emersonporter.blogspot.com if you want to see pictures)
Hopefully we'll see you at a NOAH conference some day!

Casey May 26, 2009 at 3:16 PM  

Kaycee, I hope you get this. I couldn't find your email address.

Madison had strabismus and when she was 15 months hold she had surgery to help it. Before we had the surgery though we did several months of patching. We would patch her good eye for 1 to 2 hours a day. When the patching didn't correct it we went with the surgery, her eye muscle was getting weaker. I would just make sure you have an ophthalmologist who is proactive in the care because eye development is important and the earlier you "deal" with issues the better use of her vision she will have. Sorry I couldn't email you, hope this helps some.

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