Wednesday, February 1, 2012

Kaya K.

As much as I wish this post was going to be about Kaya the Grand Canyon, it is not (that post will follow soon, I promise) This post is about my favorite little girl in the whole damn world. My little Kaya K.

As most of you know Kaya had an exceptionally rough start on her entrance to this earth.If that's news to you just read back a few pages on this blog to get the lowdown.
As fate would have it, her progression through this life is not about to get any easier.
Immediately following her birth this little peanut of a girl had so many problems that the NICU Doctors suspected a Genetic Syndrome. Testing was done looking at a specific Syndrome called Cornelia DeLange Syndrome. Those test came back Negative. The plan then became to watch her and see how well she developed. Obviously Tiff and I had great hopes that everything was ok with our little girl but we both knew it wasn't. Kaya failed to gain weight and is behind in some childhood milestones. These things gave our pediatrician cause for concern and in the first week of December Tiff and I accompanied Kaya on a visit to Dr. Viskochil, in the Genetics department at Primary Children's Hospital. Within and hour of his observing Kaya we had a preliminary diagnosis of Williams Syndrome. Williams is caused by a chromosomal deletion. In other words, when sperm met egg and first divided to start forming all the cells of Kaya's body, the first cell had a part on one of the 7th Chromosomes that was deleted. As each cell replicated and divided the deletion continues until every cell in the body is missing a piece of genetic code on one of the 7th chromosomes. A test has been developed to confirm the deletion on the 7th chromosome so mid December Tiff and I took Kaya to have blood drawn for the FiSH Test.
We received a phone call from Dr. Viskochil on the day after Christmas that the FiSH test had found a deletion on Kaya's 7th Chromosome.

Kaya Has Williams.
Those words hung in my ear. I continued listening but all I heard was "Kaya has Williams" The phone call and the following counseling session did not proceed like they would if it had been a diagnosis of some kind of disease that you can fight. With a genetic syndrome there is no plan of action, no surgical remedy, no pharmaceutical concoction that can fix, lessen, or heal the ailment. No. What you get with a Genetic Syndrome is a discussion of what WILL BE. A road map of what to expect, a discussion of Kaya's future that is already limited to a degree , by a little teeny submicroscopic missing piece of a gene.

Williams Syndrome occurs in approx. 1 in 10,000 births. There is no known cause. It happens at random. Our boys have no greater chance of having children with Williams than anybody else. Were Kaya to ever have children they would be at a 50-50 risk because every cell in her body is missing genes on one of the two 7th Chromosomes. Obviously, genetic syndromes have no cure.

If you want to look into Williams for yourself, and if you are a member of our family and friends I recommend you do. The Williams Syndrome Association has a website that is full of great and useful information. You can find it here

As far as Genetic Syndromes go, Tiff and I both feel like we hit the jackpot. Most of the personality traits associated with Williams point to extremely happy people, very empathetic and overly social. They are the people that everyone in the community knows and loves. If you live in Mapleton you already know someone with Williams although you may not know it. Kaya is going to be a happy, loving and lovable person. She will be a blessing in the lives of all those that know her. Her life will be full.

So, what does all of this mean? It means Kaya is my little girl. It means I love her as much if not more than before. It means her life is not going to progress in the "Normal Fashion" that most lives proceed. It means she may have serious medical problems that continue throughout her life. It means that after Tiff and I die, her brothers will have a huge responsibility to their sister. It means that the Mapleton Schools better get prepared for a Williams child. It means she won't likely be a brain surgeon or rocket scientist, she may never understand 4th grade math(but that is due to the fact that neither of her parent can do 4th grade math either) It also means that my daughter is going to go on river trips to the Middle fork of the Salmon and the Grand Canyon. She's going to learn to ride a bike and rally up and down Maple Street terrorizing the neighbors. It means that those same neighbors and family will have to keep an eye on her. It means we don't have to worry about her lack of following the weight gain growth charts or her trailing behind on "normal" milestones, and timelines.
Kaya is on her own chart now.
I love you little girl. Thank you for choosing me.


tiffy girl said...

She will be our sunflower. Not because a sunflower looks like the sun, but because it follows the sun. During the course of the day, the head of the flower tracks the journey of the sun across the sky. Wherever light is, no matter how weak, these flowers will find it. She will show us where to find the sunshine when there isn't much light. It will be with her. I love my little sunflower. And I love you.

Shanshine said...

The love that will surround this incredible little sunflower will push the limits of how much love in one world could possibly exist. Newty his post was beautiful . Thank you for sharing this story and allowing those of us who love you and your little family an insight into your world. I love you guys and kaya k will always have a big sister looking out for her , loving her, and learning from her . Forever .

Katie said...

Beautifully put, Paul. I want to forward it to my brother and his wife who have a daughter with an unknown genetic disorder. No tests have been able to give a name for their daughter's delays, but she is so full of love. Always wants to hug you and smile at you. She brings joy to people everywhere she goes and so will Kaya.

Jenny said...

When Tiff first posted about Kaya your mom commented and I couldn't help but think that Kaya has come to the most - the word that comes to mind is loyal- the most loyal family I know. I don't know a family who sticks together and loves each other better than the Newtons. Good choice Kaya K!

Grandma Nancy said...

Pauly, you and Tiff are killing me with these post. The people I work with think I have lost my mind, because I just sit here and blubber like a girl.
Jenny, that was a sweet comment you made about our family. Thank you. Miss Peanut did make a good choice and I don't think we could love anything more than her. We are just going to enjoy each and every new milestone she completes. Love you baby girl!!!

auntpittypat said...

Pauly Wog,
Your little girl might have a diease attached to her name, but she is anything but that! when I see Peanut, I see a little girl who is happy and learning new things. I see a little girl who is loved and who will thrive under that love. I see a special family, from good parents, loving grandparents, big brothers, and a Papa Murdock who were chosen to help this sweet little girl have an extraordinary stay on this earth. Know you are in my prayers, and that we love you! Thank you for sharing the feelings of your heart. Love Aunt Pitty Pat

michelle said...

Loved it! She will be trying at times , but just remember the golden ticket she carries with her! The way I think of it we are the ones that lack something not her. She is soooo beautiful and we will always be here if needed, You know that so does tiff. So lean on us, if you need to cry, a break, me to curl her hair. we are here indefeintley Lv you guys -M O i think i spelt that wrong o well!

Alan said...

Thanks for your post Paul. When Kaya K wants to learn ballet I have a girl that would love to teach her. If you need babysiters all three of my girls are good at that.