Welcome!! Grab a cup of coffee and visit with us! We hope you enjoy our story! (((HUGS)))

Welcome!! Grab a cup of coffee and visit with us! We hope you enjoy our story! (((HUGS)))
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Saturday, August 10, 2013

Kabuki Syndrome??!!



One of these boys may NOT have Down Syndrome!
WHAT???!!!
Can you tell who it might be?
Mr Noah's medical description from his Country emphatically states: "Down Syndrome is present with the child. Chromosome Anomaly- 47 XY +21- complete form."

Yesterday a precious wonderful new friend/ blog reader enlightened me to the possibility that Noah might have Kabuki Syndrome. Found here~ http://kabukisyndrome.com/
Are you kidding me??
Those faces are my boy's face!
 Noah's precious birth mother was un-married. He was a second birth. Birth father un-known. Mamma was not careful. Noah "looked" as though he had FAS. (flat philtrum, low set ears, eyes wide apart) His facial features weren't too far off for the Down Syndrome they had diagnosed him with.
In fact I read that when Kabuki Syndrome babies are born the Dr tells them the baby has DS 90% of the time.
 I sent 2 pictures of Noah to an on-line DNA/Gene facial recognition program today. And on Monday we will set up DNA testing for him through his Dr.

 What is interesting to me was that his Pediatric Cardiologist took Noah's birth Country's word on his diagnosis. Noah's heart is healthy- which is a blessing. But being a Pediatric Cardiologist he has surely seen other children with Kabuki Syndrome, children with Kabuki Syndrome who do have heart conditions. I'm surprised he did not question Noah's diagnosis by what he saw.
You see when Julius saw his Urologist; that Dr questioned two big issues. First the Dr questioned Julius having Down Syndrome by his facial features. Then he questioned whether Julius was a boy by his anatomy. We thought it was crazy that he questioned the DS. We were frightened when he questioned Julius' gender. So we did the DNA blood tests. (almost $900.00 worth!) Julius does have DS and he is a boy! Phew!! :o) Not that we wouldn't still LOVE Julius, we just really thought we knew the answers before the tests!
 But now we are glad that Urologist asked questions about Julius. It was good to rule out the things he thought. I think Drs can easily be wrong, and for them to question is good. We were able to find out for sure with his help!
 But with my LOVE Noah, no one questioned anything until my dear new friend/blog reader saw him. I'm so glad she brought this to my attention.
 I'm so glad we can check now- because Noah has all of the classic facial features of Kabuki Syndrome. He also had the digestive issues common to Kabuki, the strabismus, the food tolerating issues, the finger tip protrusions. We can now find out what else we should need to check for.
Because this boy means everything to us! Down Syndrome or not. Kabuki Syndrome or not.This boy was sent to us from God. Only God's Hand could have brought him into our lives. He is perfect for us. Perfect for our family. Chosen by God for us! We LOVE this boy with every ounce of our being!

And I LOVE my blog readers!! (((HUGS)))

9 comments:

  1. Wow! Very interesting. Either way, he is a cutie!

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  2. I would never have thought to question, but I don't have close experience with either syndrome. The blog world opens up so many opportunities to learn and connect with people and to find support. I don't know Kabuki Syndrome affects a person in their way of life or health but ruling it out or getting the dx will surely be beneficial to y'all. Informed and educated is a good thing. And no matter what, Noah is definitely who he is and he is a perfectly fitting member of the Archer family.

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  3. I just love all the faces he makes. What an entertainer! I read some on kabuki syndrome after this post because I like to learn about new syndromes and had never heard of it. I can't wait to hear what you find out.

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  4. This is very interesting. I'm so glad you post lots of pictures of your kids -- they are all so adorable. I always enjoy looking at all of the pictures along with reading your posts.

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  5. Really interesting things to look into...I will be interested in hearing what you find out! :) Blessings, Jennifer

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  6. If he really was misdiagnosed, it could've saved his life. Remember, only kids with DS stay on Reece's Rainbow until they find families - kids with other special needs from Noah's country are listed for two months before the agency has to give their files back to the government. Imagine if he hadn't been listed for you to see him! It wouldn't be the first time a misdiagnosis in country saved a child's life - since only certain special needs are on the 'list' in U, there have been a few kids who have been diagnosed with a special need that's on the list in country and adopted, only to get to the US and find out that they were misdiagnosed and their real special need is NOT on the list... and in some cases, they wouldn't have survived until they were five years old (when all children in U become adoptable). Sometimes the way things happen really tells you that God knows what He's doing!

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    1. Hi! Katie!! Bless you, you are absolutely correct. The wrong diagnosis can help a child find a home! We would have adopted him regardless, we specifically asked about him, his photo was no longer listed. And since learning about Kabuki Syndrome I have seen 2 other kids chosen/listed who possibly have been misdiagnosed as well, who live in other areas of Noah's Country. Thank goodness that the Kabuki and DS kids will get the exact medical care they need even if they are mis-diagnosed!! :o)They also share very similar medical conditions! God knew!!

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  7. Boy, your tag line on the top is going to get long now! Life with Down Syndrome, Sotos Syndrome, and Kabuki Syndrome. :) I'm happy someone led you in that direction of a proper diagnosis. I find it interesting that so many children can have the wrong diagnosis, but I guess it makes sense. I doubt many people have heard of Kabuki syndrome. I know I never did. Noah is such a cutie pie! I love his facial expressions. If those are caused by Kabuki syndrome, then it is a wonderful syndrome indeed.

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  8. I LOVE NOAH!! That is all I have to say about that! :)

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