Before having children, the farthest I thought about genetics was assumptions on whose eye color my children would have or whether they would get my nose, or my husbands hands. I thought of the word “hereditary” in relation to characteristics, not in regards to diseases, illnesses and conditions.
But a quick google search after Arlo’s diagnosis of Ocular Albinism at 3 months old led me to the words “x-linked hereditary” — meaning it is most commonly passed from mother to son. I felt a knot forming in my throat as I read that the gene can be passed from generation to generation before it presents itself in a member of a family. It also meant that if I carried the OA gene, there was a 50% chance that any son we had would also have the condition.
I gave him this, I thought my eyes burning with tears. I felt dirty, betrayed by my genetic makeup, angry that this wonky gene had layed quietly inside me and now I had passed it to my son. I was ashamed of it, mostly because I didn’t understand albinism yet. I was so fearful of the unknown.
Six months since his initial diagnosis, my mindset around albinism has changed drastically. I’ve discovered that first and foremost, albinism is nothing to fear. As far as chromosomal abnormalities go, it’s a pretty mild one. It doesn’t effect his life span, his bodily functions (save for his vision to some extent, bit there are a lot of resources to help him there) and it does not cause him pain. Arlo is also fortunate in that he does have some pigmentation, so most people are not even aware that he has it.
But I’ve still been fixated on the genetic piece of his puzzle — while Arlo’s diagnosis was for ocular albinism (a form of albinism that mainly effects just the eyes) there is also the possibility that he has oculocutaneous albinism 2, a variation of the most identifiable form of Albinisn (OCA1) that is associated with white hair and no skin pigementation. Like people with Ocular Albinism, people with OCA2 still have some pigmentation in their skin but are usually fairer than their siblings. If Arlo has OCA2, that means that both Brent and I would have to carry the gene for it. It also means that there is a 1/4 chance that any of our future children, boy or girl, could have the condition.
And then, there is a third possibility. That all of this happened completely spontaneously within our son. That there was no gene abnormality on either my side or my husband’s that caused this. In that case, it’s just the way the cards fell for him.
We met with a genetic counselor today to talk about all of these scenarios. She helped piece together all of the parts I had tried to make sense of through my own research. She answered dozens and dozens of questions (Could exposure to radiation during a dental exam before I knew I was pregnant cause this? The answer: No. Are his chances of autism higher because he has albinism? The answer: Possibly, depends on what part of the chromosmal makeup is missing). Every what-if and wonder that has raced through my head over the past six months was laid on the table and it felt good to have an expert to confirm or put to rest my concerns.
The next step for Arlo is to get the testing done. We are waiting on a confirmation from our insurance as to what parts of the testing they will cover (It can run in the thousands of dollars) and then they will draw his blood and run tests for both the kind of albinism he has as well as a test to determine if it was spontaneous or hereditary. The answers to these questions will also help us understand if his heart and urology conditions are linked to his albinism or if they occurred separately, on their own. It may also help give us some indicators for other things in his development we need to be aware of.
I used to think that topics like genetics were way over my head, but nothing makes you hungry to learn and understand like being a mother in search of answers for her child. I have discovered so much more than I possibly could have imagined about our genetic makeup and the how and why behind what genes we pass on to our children. I’m also learning to let go of the guilt associated with the knowledge that I could have passed this condition to him and more than anything, I’m looking forward to having this testing done so that my mind can close the door on the what-ifs and move forward with what is.