Well, today has been quite the day, but I wanted to post here the latest on what we've learned for Sam. Information is always a good thing (I think) and so I am grateful to know what we know. I'm a little overwhelmed and emotional, but there are many reasons for this.
Several weeks ago, Sam was hospitalized for viral pneumonia. This was nothing new for us, and as crazy as it sounds, everything seemed very "routine". While we were there, the doctor ordered genetic testing. I think she was hoping to find a link or reason to all of the challenges that Sam has had over the first years of his life. I didn't think much of it. Honestly, I feel like we've been through so many, what's a few more? Right?
Well, we got the results today from our pediatrician. Because of our move, she had to tell us over the phone. Apparently Sam was born with 2 extra chromosomes or 48xxyy syndrome. It's very rare and only affects 1 in every 17,000 boys. In fact, I read that many parents who learn of this during pregnancy through an amnio, abort. That makes me very sad. Not that I want to debate this issue, but I look at the joy that Sam brings me every day, and his incredible capacity to love, that I couldn't imagine not having that.
I will post a link at the bottom to a website we found about this condition. It explains it better than I can, but something I want to say, before anyone reads it. Sam is who he is and no diagnosis will change that. I refuse to allow myself to be freaked out about the "what if's" and "what won't be's". He is a charming child that loves everyone he meets. He is happy and loving. I am grateful for who he is and what he has brought into my life. I firmly believe that Sam has this challenge for a reason and no statistic, no symptom will change who he is. I'm thankful for answers, because it gives us a direction and the ability to find a support group, but I will not let this "name" define my son. And today, I feel overwhelmed a bit, by the future and the work that will be involved, but to be honest, I feel that on most days! But, I am grateful for the challenge, I'm grateful for the blessing it is to be his mother and I will do everything I can to give him the very best life possible! The most valuable lesson I have learned since Sam entered our life, is that there are no guarantees. We only have today and we only have what we can see and touch and feel in the here and now. So we need to enjoy it and not worry about what the future brings. I am also grateful to know that this life is not the end, and who Sam is now, in this life, is merely a challenge he must face. Underneath it all, is a very sweet and special spirit, who will be my child forever. And for that, I am blessed.
Here is the link: http://www.xxyysyndrome.org/
5 comments:
I was so glad to hear from you. I've really missed you, I don't know if I've offened you in some way but, have felt completely cut out of your life, thus the reasons for not continuing with phone calls that go unreturned and only leaving comments on your blog. I love you more than you know and I love your family. Sam IS The sweetest boy and is so special. He touches every life that has the privelage of knowing him. Know that you guys are in our prayers and we wish nothing but the best for you.
Ramona you are always such an amazing person with such amazing outlook on life. I am so glad that Sam was born to such a wonderful Mom, and family. He is such a sweet little guy and the times I have been priveledged to be with him, I feel I have been blessed from his spirit. Love ya Ramona!!!
John and Ramona,
We haven't bothered to check the link yet because it won't change who Sam is to us either. We so enjoyed playing and eating and hiding in closets with him in Utah. He is lucky to have such loving, caring parents. We admire your loving acceptance of Heavenly Father's plan for one of his very sweet children. We will pray for your continued strength and peace.
Love,
Dave and Gretchen
so well put. I love the way you think. Always have. A few months ago the doctor sent me to see a perinataligist.(sp?) I met with a genetic counselor who started talking about all kinds of tests they could perform to discover any abnormalities. I quickly stopped her and explained that knowing such info would not change the decision to have this baby. We have to trust in the Lord. He always knows best and Sam is living proof!
I'm glad you guys have a diagnosis. I love your outlook, it's one of the many reasons you are an inspiration to me!
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