Over the past two months we have had two appointments with the Arkansas Children’s Hospital Genetics Department. Our first visit was to speak with a genetics counselor, Carla, and see a genetics specialist doctor to discuss all the possibilities of albinism there are for Liam (as well as to collect his blood sample, the second visit being where they collected blood from Brian and I as well.) We had originally been told that since he is so pale and white-headed that it was a possibility that he did not just have Ocular Albinism—where the lack of pigmentation is limited to just the eyes—but that he could have a full version of Albinism—several different types, see tab above—which would mean that it is not just in his eyes but instead in his eyes, skin and hair.
Though we were always told this could be a possibility, we were convinced that Liam’s was most likely inherited from me, his mother, rather than the possibility of it being from both Brian and I. (Ocular Albinism is typically x-linked and passed on by the mother. Since I had a non pigmented patch on my arm that could indicate a carrier of albinism, we assumed it would at least be from my side, if not from both mine and Brian’s.) We spent a lot of time talking to Carla about the genetics of albinism and how they are not as cut and dry as you might think.
Carla informed us that there was a possibility that neither Brian nor I carried the gene and that it is just a mutation in only Liam. It was also a possibility (though a very rare one) that I did not carry the albinism gene at all and that the spot on my arm was just a birthmark, with Brian being the only carrier. Then another possibility was that gene they tested for both Brian and I had one of us marked as the carrier and the other as not the carrier but still having a SEPARATE gene that was carrying the albinism just not the one that affected Liam’s gene with albinism. All a very confusing mess if you ask us!! I’m sure there are several other possibilities that I have overlooked but the main thing we wanted to know was not who it came from but what type it was—OCA1 or OCA2.
That being said, now that we know all of this information we have decided to keep it just between us and our families. We love Liam just the way he is and both agree that God gave Liam his albinism, not either of our family genes, because God is going to use him for great things WITH his disability—if you can even call it that.
So the only thing we are choosing to share for right now is that Liam’s albinism, which we thought originally was just in his eyes—ocular albinism—is not only in his eyes…Liam has now actually been diagnosed with OCA2, meaning that he has the full spectrum Albinism in his eyes, skin and hair. This changes nothing much for Liam other than we need to make sure he is always covered in sun screen when playing outside or that he remains in the shade when possible. Our chances with each of our following kids in the future will be 50/50, as well as Liam’s future children who will also have a 50/50 chance of carrying the gene or expressing it. Liam is labeled as a carrier of the gene (who usually do not express signs of the albinism) but since he shows signs of the albinism, Liam is what they call an expressing carrier—a carrier who also expresses symptoms of the trait. This is apparently very rare from what we hear but we are satisfied with the results nonetheless. Glad to finally be done with all the blood draws and such to pin it all down on paper.
It came as a shock to us but just in time for Liam’s one year birthday so we could officially close that chapter with a solid diagnosis and move forward into a new year…hopefully one empty of hospital visits, specialists, specialist testing, and especially…needles. Insert sigh of relief here!