Monday, February 9, 2009

Fraser Syndrome

Yesterday was a perfect example of two steps forward, one step backward. The three of us had been having a beautiful couple of days in the NICU. We've had a string of great nurses, we are discovering that Noah is a "spitter" (he just spits up a lot), and have spent plenty of time holding and cuddling.

Dr. Curry, the geneticist, came to look at Noah in the afternoon. She did a thorough evaluation and told us that she is positive Noah has a VERY rare syndrome called Frazer Syndrome. Apparently, both Kc and I are carriers of a recessive gene. When we have children, they have a one in four chance of getting both recessive genes passed on and developing Frazer Syndrome. We have had two sons and both of them had the syndrome. Dr. Curry was certain that Ryan was miss diagnosed with Potters Sequence, and that he had Frazer Syndrome. This is an incredibly rare syndrome. Dr. Curry does not think she has seen a case before in her 34 years as a geneticist. Some of the research I have done on the internet states that there have been less than 200 documented cased in the past twenty years.

Most children with Frazer Syndrome do not live past one year of age. Noah seems to be less severe than most cases. Of his many defects, most of them can be fixed with surgery. He will have several surgeries in the next two years to repair his imperforated anus, fix his club feet, enlarge his trachea, separate the small webbing between his third and fourth fingers, and fix the strictures in his urethra. What we are uncertain, and most scared about, are his sight, hearing and cognitive development. Most children with Fraser Syndrome are blind. Noah does seem to respond to light so we think he has some vision, but it is probably very limited. Dr. Curry has ordered a MRI of his right eye, but thinks that what is under the skin is not developed enough to be useful. We will know more at the end of this week.

Most children with Fraser Syndrome have some hearing loss and cognitive difficulties. Noah does respond to loud sounds as well as Mamma's soft voice. We think he will have some hearing, but are not sure how much. As far as his cognitive abilities, once again, we are hopeful because Noah seems to act like a typical two week old. He is happy when he is dry, fed and nobody is bothering him. He gets fussy, and downright irate, when people are poking and prodding. He has good muscle tone and is working on holding his head up.

It is truly amazing that I, who carry a recessive gene, met and fell in love with another person who carries the very same recessive gene. This has huge implications for whether or not we have any other children, but I think we are getting ahead of ourselves. One step at a time. It is nice to finally know what we are dealing with and be able to arm ourselves with research (what little there is). We continue to thank you for your prayers and support! You are all amazing!!!

23 comments:

  1. We will continue to pray that Noah defies the odds. Noah has two amazing parents, and an army of people that are praying for him and supporting you all.
    All our love,
    Shari and Jeff

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  2. thanks so much for the updates.. my mom is praying for little noah all the way in Oklahoma and asks about him regularly.. we would love to bring a home cooked meal by the hospital and hug your necks.. just let us know when would be the best for you.. the Bells

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  3. Team Noah is in the huddle! God is our amazing coach and prayers are the game plan. These updates are such a blessing to sll of us who are on His and your team.
    Love, The Tanner Family

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  4. KC, Rebecca and Little Noah, I am praying for you multiple times a day. Take rest in knowing God is in control. Blessings to you and your family.

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  5. I know a few things right now: Noah is blessed to have the most awesome, loving, amazing parents; Noah is a beautiful blessing and bundle of joy; we are all richer being a part of your lives; . . . and God is in control! You all will continue to be in my prayers . . . and I can't wait to meet him! With love, Carol Young

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  6. The Jackson Family

    You are truly an inspiration of what Christlike love is all about. You have amazing strength and a beautiful baby boy. He is just gorgeous. Meg wanted to tell Mrs. Jackson that she thinks Noah is cute and she said you look beautiful and happy in the picture where you are holding him. Please know that you are in our prayers everyday and we hope the best for you each and every hour of every day. Please give that little Noah Stone Jackson a cuddle from Meg Boman. She would like that.

    The Boman Family

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  7. It is nice that we now know what we are dealing with. The articles I've read estimate the incidence of Fraser's syndrome to be less than 1 in 100,000. This certainly in rare, but we all know that the Lord couldn't have picked a better couple to parent little Noah. We love you and will continue to pray for the three of you (and all the awesome doctors and nurses helping out).

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  8. Little Noah is one amazing little boy! He is beautiful! Noah is fearfully and wonderfully made! His life is an inspiration to so many people. We pray for peace, hope, and understanding in the days and weeks to come. Thank you for letting us be part of your lives. It has changed ours! The Esajians

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  9. Not a day goes by that I don't think and pray for all of you! Thank you for allowing all of us to be a part of Team Noah! Noah..you are an inspiration to each one of us as your parents are too. A special prayer to you, your family and to the incredible nurses and doctors too! Kim

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  10. Hello, this is Steve and my wife Gale from Texas. I am Cindys cousin. Your little Noah is a special blessing given to you from God. He is beautiful, precious and an angel. Noah has touched the lives of many people and is such an inspiration. We will pray for you both and for little Noah as he continues to grows stronger. Love hugs and Gods blessings. Steve and Gale

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  11. Noah, Rebecca and Kc-God's richest blessings for you all. I continue to pray for wisdom and peace for you and all those around you. Dr. Curry is the best! You couldn't have a finer geneticist! We miss seeing you at CH, but know you are right where you should be...cuddling that sweet baby boy! Love you all,
    Julie Johnson

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  12. Hey Noah its Sierra again. I am back at Nana and Papa's . Hey dude,you have to start that eating with the bottle so you can come home and I can hang out. I can teach you how to chow down a bone or a cracker. I am good at that and cannot wait for you to sit in the thingie called the high chair. Hunter drops lots of real fine goodies and Ranger and I get to clean them up. I hope you learn from Hunter to give your four legged friends a treat. Don't worry about that thing they call "spitting up" Ranger and I will clean that up also. Come home soon. Its a good place to be.
    Your Dog Sierra

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  13. Becky & Kc - we continue to pray for you. The journey continues but we know that God knows the steps layed out before you and He will walk with you along the way!
    Love,
    Emily Kapic

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  14. Hi Fella! You are now, unfortunately, a full-fledged member of the "I hate Mondays" club - I've never known good news from a doctor on a Monday. Well, that said, Trigger (our 7 month-old Golden) has volunteered to assist with anything Sierra and Ranger can't handle, this Mimi and Papa will continue our prayers, and I think everyone is right on when they say it's the devil you don't know that can hurt - and now that we know what you are dealing with, we're armed and dangerous! Love you all - Mary Anne

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  15. Hi Noah, Becky and Kc, I'm one of your 3rd cousins and I live in Rockton, Illinois. Your Gram Betty was a baby sitter for our 6 children when she was in high school and I can tell you she was THE BEST. You will love her when she takes care of you and hugs and kisses you continually. My paryers of healing, wisdom, discernment,peace and love are with you all. Love Cousin Joan, one of the Dots. P.S. Let your Mom tell you about the Dots some day.

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  16. Just got back from Moms and More. I cannot tell you the number of moms who are blogaholics. There are so many people on Team Noah. What a blessing.

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  17. Jackson Family
    Congratulations on your beautiful little angel and i love his name.You have amazing strength and Faith in God. We are praying everyday for little Noah, you & your husband. You are an amazing teacher who has made Eric's first grade experiance wonderful. watching you with my child i knew you were going to be a awesome MOM, Noah could not be more Loved. We have you in our prayers and think of you daily.
    Love the,
    Miller Family

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  18. "God works everything together for good for those who love Him and are called according to His purpose."
    That's such a great promise from the Bible.
    I am very, very blessed to see how many people are praying for Noah, and his Mom & Dad.
    God is good.
    Love, Grandma Jackson

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  19. Hi, I have Fraser's Syndrome. I am 37 and a fellow Christian. There is HOPE! I cannot believe how many people I have come across online that have Fraser's or have a child with Fraser's. For something that is so rare, is is starting to effect a lot of families. I am trying to start a network for people affected by Fraser's as networking and support from others that understand is so very important. My email is: faithrocs2@aol.com.

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  20. Hi,

    My son has Fraser's Syndrome and is now 18 years old and is doing fantastically! He is a straight A student and will be a Senior in High School this fall. His birth defects were severe and numerous, but he has conquered everyone of them and is now a happy healthy teen with many dreams and hopes for the future. Hang in there and please let us know if there are any questions we can answer or be of help with. Hugs to all your family.

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  21. lots of love to Noah & family recently i read a grany old 86yr diagnosed as fraser syndrome leading near normal life so their r lot of hopes keep in touch

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  22. my name is anna and we think our son has the syndom.... he was born on july 26 and we had a few symtoms like they discribe.... plz e mail me for more info about this syndom.... at shorty_blondy2000@yahoo.com

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    Replies
    1. I just sent you email. chris@chrismcqueenimages.com
      My life was affected also. So Bec and/or Anna send me email. I am not spam or selling anything. Just a mum.

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