Connor was so brave for his CT scan on Thursday. I was a very proud mommy. They went looking to see if the sutures had closed to early in his skull and to be honest with you, that is all we were told they were doing.
His ped. called us last night with the results of the scan. As suspected, the sutures have closed in a triangular shape. We are not sure if he will need surgery as of yet. We are waiting to see the cranial facial team. His ped. then started telling me what the scan had found in his brain. I had no clue this was coming. Apparently the white matter of his brain is patchy and has low density. The white matter of the brain is what carries the messages to and from the gray matter (at least that is what I am gathering) telling your body what to do. I guess they are now concerned that Connor might have something called leukodystrophy. It is a genetic disease that comes in many forms. I think there are about 34 different types. It affects the same matter in your brain that muscular dystrophy would affect. The only way we will know for sure is if Connor gets an MRI. I will be making that apt on monday. Eric and I took the day off work today to gather our thoughts. We are hopeful that this is not what they think it is but rather just another symptom of Connor missing that part of chromosome 21. His 21 has gone and linked itself to chromosome 12 making it look like he is missing one chromosome. 12 is functioning normally. We think what Connor is going through is fairly rare because we cant find much literature on it.
10 comments:
Oh hun! I am sending you a giant hug! I am praying my heart out for your beautiful family! I feel so helpless being this far away but if there is anything that I can do please let me know!
i'm sorry, i hope you get some really good news soon. ((hugs))
thanks. I could use lots of hugs right now.
God. Not knowing what the hell is going on is almost as bad as what IS going on. I hope that 1st you get your answers and then you get some peace of mind. I am not a religious person but I will be thinking of you and your beautiful family and hoping that Connor doesn't have to undergo too much more poking and prodding. What a brave little boy. I have said it before-what a brave, strong mama.
thank you heather. it is a lot to take in and I am more confused than ever but, we are hopeful we will get some answers soon.
I am so glad that you posted this! You all are in my prayers and Connor is so lucky to have you as a Mommy.
Kelly March Mommy :)
((((HUGS)))) Sarah, we are thinking of you all in this rough time... I am praying for some good news to come your way soon! If you need anything please don't hesitate to ask...
Awww Sarah! I'm sending you a big hug right now. I'm sure all this news is a lot to take in and I just pary for the best possible outcome for your little man. I've said it before and I'll say it again...Connor is a perfect little angel! He is so handsome and full of life. You are truly blessed to have such a sweety on your hands. Know that no matter what you guys are blessed!
***Hugs*** to you Sarah and family. You have a beautiful little boy and he is so lucky to have you and Eric as parents. I'm sorry that you don't deserve to go through all of these unknowns. I am praying for strength, patience, wisdom (from the doctors too!), and mercy. I'm glad you are keeping us updated.
Hugs and prayers, Desiree.
Sara-
I just read your message on Ivey's blog. Welcome to our world:) I know that you are at a terrible loss right now of emotions, information and shock. Take a deep breath, you are so normal. Your family will make it! After Ivey was born, I have never been able to tell someone "I'm sorry" anymore. It is hard, but these precious little ones will work miracles in your lives; it just take time and healing. I am sure you are a strong mama and will make it through the long days that lie before you. Just remember to breath!
So, you are right. There is only dead ends and no information out there. You are only the second family we have encountered with a child with a 21-deletion! The other family was in South America, and we met them via the internet by random chance. We are a very small club! It is extremely rare. I do have a list of symptoms that are available. I will forward that to you if you like. When Ivey was born, we sifted through the known symptoms - marking out those she did not have - and waiting for time to pass to discover new ones that she might have. Our genetists discovered a handful of children in the US also with a 21-deletion, but it is hard compare the children to one another. For example, Ivey is a pure deletion. There are no translocations, etc. and there point of deletions varied. So each is different.
I know too well how you are reeling right now. I wish you some peace. But that will not come for awhile.....it will come though. Ivey is three now. We had no idea of any complications until the moment of her birth when she first emerged and her cleft lip was present....it only went downhill from that moment. But, now three years later I would not trade her or those life altering moments for anything in the world. She has completed something inside of me... It is tough, but life has a new perspective. Now with all of the uncertainty and unknown information, I have learned to turn the hardship around (most of the time). No one can tell me her future, no one can tell me she cant do something, no one can predict anything about her. Hard to swallow at times, but her future is her future. There are no barriers, only the ones that we construct. She is limitless.
You hang in there and know that YOU ARE NOT ALONE!! We are here right by your side!! My heart is smiling today for you. Please keep in touch. We can lean on one another. email me
gwensirmans at comcast dot net
Gwen
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