Tuesday, June 5, 2012

Answers for Our Unanswered Questions-Our Final Diagnosis

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!

4 comments:

  1. Hi, Amy! I stumbled across your blog from the NOAH website. So glad to find your blog, as we are going through the same situation right now. Our 6 month old was just diagnosed with OA at ACH as well. Dr. Phillips is Beckett's doctor. I am trying to learn all I can at this time, but the information seems to be overwhelming. We live in Bentonville, and Beckett is our third child, but the first to have any vision problems. We noticed his nystagmus at 3 months of age, and have been going through a whirlwind since his first primary care visit regarding his nystagmus. He, like Liam, is blonde hair, blue eyed and fair skin (my other 2 were born with black hair, but lightened over time). We are waiting for the results of Beckett's blood panel right now to tell us what form of OA he has. Thanks so much for your blog! It caught my eye because I have been thinking of doing a blog called Through Beckett's Eyes to educated our friends and family about his diagnosis and prognosis. Then, I started reading and found out that you were from Arkansas, and I figured there had to be a reason I was brought to your blog. Thanks again! -Nikki

    P.S. you can contact me at nrpetersen03@yahoo.com

    ReplyDelete
    Replies
    1. Nikki! It felt so good to read your comment and see that you guys were so close in our area! I have so much to discuss wtih you so I'll email you here in just a bit! So glad you got in touch with me! We will talk soon!

      Delete
  2. Hi Amy, I'm the mother of an 8yo son with OCA in Australia. We never found out exactly what type of OCA he has but did have genetic counselling as he was our first born and were told we have a 1 in 4 chance of having a child with albinism with each pregnancy. We subsequently had 2 daughters who do not have albinism but who are probably carriers of the gene. My son is now in a mainstream classroom and is doing well with vision support. He is legally blind (6/60 here in Australia, might be 20/200 there for you?) but compensates for his vision loss in so many ways - it's incredible how well he copes in everyday life. It was great to find your blog - I have a blog too at http://www.myhometruths.com It is not OCA specific (my son has high-functioning autism too) but it helps me process everything and has helped me find others who understand what we're going through. Looking forward to reading more of your journey with Liam, so glad you were able to get some answers!

    ReplyDelete
    Replies
    1. Kirsty, So great to meet you! THanks so much for telling me about you son, I like to hear from moms who have kids with Liam's condition but are further down the road than we are so I can hear the positive reinforcement on how well they each do, or where to focus on for weaknesses. It's great to connect with moms who know. We were told we have 50/50 chance for our next kids but I feel like Liam will probably not be our only one. (That may be because of how many kiddos I want I'm not sure!) Id love it if you found me on facebook so we can chat further! My friend Ashleigh over at happyashleigh.blogspot.com has started a group on facebook for OA/OCA Mommas and we are slowly finding more and more to join and tell us with young babes some knowledge on what's to come! So glad to hear from you and hope we get to chat further in the future about our boys!
      Amy

      Delete