“Well it didn’t come from our side of the family.” One of the first things we were told when our family met Oliver. Followed by “It must be from you, you did it.” I have very fair skin and dark hair I have always been called “albino.” In fact there are even jokes on my social media from when I was pregnant on how I was bound to have an “albino.” It was all meant in jest but it has always hurt. It hurt when people didn’t see our baby but his condition. It hurts every time someone attacks or makes fun of my son.
He was born this way. We didn’t know ahead of time but even if we did it wouldn’t have changed a thing. We might have been able to better prepare others for the news but there isn’t anything that would have kept my husband and I from loving our son. There also wasn’t anything we could have done. We are both carriers of the recessive gene that causes albinism. Neither of us were aware of this before delivery.
I have a first cousin that I grew up with that has albinism. My childhood best friend Crystal that had albinism. It was never much of an issue to me, but I also didn’t know much about it as a child. Both people I knew with albinism seemed just like me. My husband isn’t sure how he has the gene. Neither side of his family line has had a child with albinism. Until genetic testing is more affordable we’ll likely never narrow it down. But how can we know what Oliver has without testing?
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.
Find more from Albinism.org on What Is Albinism
There are Two types of albinism. OCA Oculocutaneous Albinism as mentioned above just means that the person cannot produce melanin in the hair, skin, or eyes. This type of albinism is from a recessive gene that both parents carry. This is what Oliver has. We did not get genetic testing to confirm because he cannot produce melanin in his skin or hair; his eyes developed pigment very slowly. The other type of albinism is Occular Albinism. This is passed down mother to son and only affects the eyes. This form of albinism comes with all the eye issues and concerns of the other form of albinism.
This is why every medical specialist or doctor we talked to in those early days knew Oliver’s condition, but did not confirm diagnosis. The pediatric ophthalmologist confirmed the diagnosis by confirming that Oliver’s eyes had all the markers of albinism. I’ve already explained how vision is different for those with albinism.
I have seen research that has suggested there are other types of albinism in rats and that could apply to humans. Until more recently there hasn’t been a lot of medical research in the field. NIH is running a great program to change that and learn more. Even without fully knowing about the genes we carry I can say that it’s okay.
Those early days were hard because everyone saw what was different about Ollie. As his eyes developed pigment he began to blend in. He looks like a fair skinned, fair haired child, that uses a white cane. There are so many things that he has in common with others. There are so many ways we are all alike. I look forward to the day when we focus on our commonalities and stand side by side as humans rather than separated by our differences.