I am at a loss. It is difficult for me to post this info, but necessary. Please pray for me as I struggle to grasp the new information given to us Wed. from our geneticist. Caroline received a confirmed diagnosis on Wed. We are not expecting this. According to the skin punch test Caroline has a very rare chromosome disorder called: mosaic triploidy.
There is some info on the Internet and lots of scientific journals that are way beyond my capacity of understanding. I was disappointed because RSS has more positive information and real live families to connect with. I have no definite info and no people yet to talk to about this. Most docs have never heard of it. We are still going to see Dr. Harbison in NY to discuss other endocrine issues as Caroline's growth is still a part of this new syndrome.
Do not confuse this with full triploidy - it is incompatible with life. All babies usually die in the womb or shortly after delivery with full triploidy. Basically, Caroline's condition happened at conception. Caroline has three copies of some of her chromosomes rather than just two like the rest of us. She is relatively healthy And does not have some of the major health issues that some of these babies have. There is no confirmed information concerning her life expectancy, physical dev. and brain development for the future. We are still up against a lot of unknowns. IN some ways I feel like it does not even matter that we know what is wrong. It does not change Caroline or make her better. It also does not change our treatment plan. We will continue with all therapies, hope for the best, and pray for constructive information, research , and guidance. Please remember us in prayer. Caroline is happy and weighs 7.14. There is a whole new understanding about Caroline being "fearfully and wonderfully made!"
6 comments:
Kim and Cam,
At least now you have a confirmed diagnosis and know what you will be dealing with. I know it is frustrating not to have much info about the syndrome - I will search like you are doing and send you anything I come up with. Be thankful Caroline is happy and responsive (the picture you sent with your thank-you note is absolutely precious). Today is a new beginning to start dealing with her confirmed diagnosis. You will not be alone in your journey. Kisses to all.
Peggy
Dear Merciful Heavenly Father,
I come to You now with a heavy heart for my precious friends. As I read the words here, the thought I had was that this news must be crushing. Yet I take that thought captive and claim the truth of your Word for my friends. You tell us that "we are hard pressed on every side, but not crushed; perplexed, but not in despair; ...struck down, but not destroyed" that Your power might be evident in our lives (2 Cor 4:7-9). Lord, I thank you that Kim and Cameron's hope has been -- and remains -- in You. I rejoice that You shine through them, and I ask that You guard their hearts and minds as they walk this uncertain path.
I love Your words in Isaiah 43:1-3:
"Fear not, for I have redeemed you; I have summoned you by name; you are mine. When you pass through the waters, I will be with you; and when you pass through the rivers, they will not sweep over you. When you walk through the fire, you will not be burned; the flames will not set you ablaze. For I am the LORD, your God..."
Lord, I thank you for the family and friends Kim and Cameron have around them. I thank you for Carley and the life she brings to their home. I thank you for Caroline, her sweet spirit and beautiful smile. Give Kim and Cameron wisdom and grace, I pray. Help them to feel Your abiding presence.
In the name of Jesus Christ I pray, Amen.
What a nice prayer from your friend Jenn. Caroline has been such a trooper and still smiles so sweetly. I know this is not easy for you and the diagnosis doesn't make anything easier. Press on, you have so many supportive friends and family members. We all wish we could make your burden lighter. Caroline may have a diagnosis that other children have been given before, but there has never been another Caroline Rae. She is a gift.
Can't wait to see you.
Love you,
Kelly
Yes, Kelly is so right.. what a gift Caroline is!! It was so special when I was helping with Caroline to see her in her bassinet always smiling and kicking those legs. ALWAYS!! Even when her milk was spilling onto her bed instead of into her little tummy!!!!! And when her breathing monitor alarm went off like a smoke alarm at 1:30 am. We went quickly to her and she was "smiling" as if to say "it's OK Mom.. I'm OK" She always displays much joy no matter what goes on. She giggles so sweetly, she just made me completely happy to just carry her around and feed her and bathe her. And what a good Mommy Kimberly is..... amazing what she has to do with the feeding tube, the feeding pump at night and the breathing minitor!!!! And to take her anywhere in the car is another story! But it all works out so well and Caroline just smiles!!! She certainly is our little gift. Papa Frank and I can't wait to see you all at Thanksgiving at Aunt Kelly's and Uncle Matt's.We Love you all very much Mom
Great is Thy faithfulness, O God my Father;
There is no shadow of turning with Thee;
Thou changest not, Thy compassions, they fail not;
As Thou hast been, Thou forever will be.
Great is Thy faithfulness!
Great is Thy faithfulness!
Morning by morning new mercies I see.
All I have needed Thy hand hath provided;
Great is Thy faithfulness, Lord, unto me!
Summer and winter and springtime and harvest,
Sun, moon and stars in their courses above
Join with all nature in manifold witness
To Thy great faithfulness, mercy and love.
Pardon for sin and a peace that endureth
Thine own dear presence to cheer and to guide;
Strength for today and bright hope for tomorrow,
Blessings all mine, with ten thousand beside!
K & C:
Been singing this & praying this for you since I read your post yesterday. He WILL provide EVERYTHING you need -- He is Faithful! I loved reading your mom & Kelly's posts about your little bundle of joy! Maybe with football season over, Jennifer & I can come help. We keep trying to figure out a time! I would love to rock Caroline and tea-party with Carley! Know you are loved and your names are being mentioned to the Father often!
HUGS!
Cathy
Dear Kim and Cam,
I was amazed by Cam's spirit when I ran into him at Star Bucks and he shared the news about your little angel and what has been going on in your lives. I left and began to pray on Caroline's behalf and thought to call you for several days. I did not pick up the phone and just a few days later I am in Star Bucks and there you are!!!! Isn't God good. Kim, it was so good to see you and to witness your strength and faith. You may not always feel strong but I want you to know that I felt a presence of strength, peace, hope, faith, trust just ooozing out of you and it was such a testimony for our Lord. I will continue to pray for Caroline and that God will direct both you and Cam in the direction that He would have you go. God controls all things and will take care of every need.
Love,
Kristi
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