Saturday, March 8, 2014

Trisomy Awareness, looking beyond a diagnosis

Trisomy can be a devastating diagnosis, especially when your loved one is first diagnosed. We, as Kayli's parents, worried that we did something to cause Trisomy. We were swiftly assured that we played no active part in causing the Trisomy diagnosis. In rare cases, a parent can be a carrier of Trisomy, and not even know it, but in most cases Trisomy happens as a "fluke" during conception. When the cells divide, they are unevenly divided, and an extra chromosome (partial or full) is formed. (This is why we like to say "Trisomy: when Extraordinary starts at conception".  ) Then when the cells duplicate, they carry that uneven division throughout. The type of Trisomy depends on when the division/duplication happens. If a cell is unevenly divided/duplicated in the first 32 cell divisions, it is likely that the Trisomy will be a full Trisomy. If the uneven division/duplication is later in the process, then the baby is likely to have mosaic (not all the cells in the body will be affected). If a portion of a chromosome is duplicated in the division, the Trisomy is partial (a portion of a third chromosome is formed and duplicated throughout the cells). While there is a great variety and spectrum of Trisomy diagnosis' (Trisomy 1- Trisomy 23, Full, Mosaic, Partial, Translocation, Balanced Translocation, Ring, and many combinations within those diagnosis'), it is important to remember that each person is unique in their own rare diagnosis. No person will be exactly the same, so it is unrealistic to categorize any person under one prognosis based on a diagnosis or statistic, alone. It is vital that the new parents have support while processing the new diagnosis with reportedly grim statistics (that are outdated and questionably accurate in my opinion), and grieving their idea of a perfect child. As the family learns the new challenge of being a parent of a child who will most likely to have special needs, and revise their idea of a "perfect" child, they will also need to be reminded that their child is not a diagnosis, but he/she is still THEIR CHILD. They will not love their child any less, nor should you (as a friend, family member, coworker, etc). There is no manual for the parents, and the baby will not know of the statistics. There is no way of knowing, with great accuracy, what challenges their baby will have. One of the best ways to support the family, is to respect their journey but not fear it, encourage them to get to know their baby (in the womb, stillborn, or alive). No soul is ever wasted, and only a body is to be mourned. If we, or others around us (professionals, friends, or family) find ourselves lost in Kayli's diagnosis, we go back to the list of WHO Kayli is, which pulls us away from the dark depths of the diagnosis she HAS. We strive to stay one step ahead of Kayli, but recognize that only she and God knows of her great plans in life, no matter how long or short it is to be. We share with you, a capture of Kayli, beyond her diagnosis....

All about Kayli, looking beyond her trisomy diagnosis

Life
Nickname~ Sweet Pea, Princess, Ms Thang
Song~ This Little Light of Mine
Birthstone~ diamond
Birth flower~ Sweet Pea
Birth order~ youngest
Symbol~ heart shape
View~ my way or no way at all
Motto~ With God, all things are possible

Favorites
Color~ Purple
Animal~ Jelly Fish
Place to visit~ Aquarium
Mentor~ God
Stuffed Animal~ Eeyore
Music~ Lullabys
Bedtime routine~ Mobile and/or Projector
Therapy~ sit to stander
Jewelry~ earrings
Pastime~ swimming/bathtime, watching jellyfish in LED lighting, or sitting in the tunnel of fish at the aquarium


Milestones since the 32 minutes of anoxia (lack of oxygen)
Potty training (for a couple of months)
Using switches (toys)
Blinking
Smiling
Swallowing
Pulling self up
Can sign "more" and "all done" in her own way
Knowing her surroundings and people in her life
Eye tracking
kicking/pushing away with hands if upset

Bucket List Achievements
Was in the Ocean
Rode a pony
Saw Fireworks
Traveled the country in an RV
Rode on an amusement park ride (two)
Was in a parade
Gave something of herself, freely
Received mail
Sent mail
Sat on Santa's lap
Went to a pumpkin farm
Danced
Has a personally decorated bedroom
Has been tickled
Fell asleep in Mommy's and Daddy's arms
Petted an animal (goat, dog, and ferret)
Dressed up for Halloween (Dorthy from Wizard of Oz, Wonderwoman, and )
Smelled a flower
Got raspberries on her tummy
Felt rain on her face
Laid on Mommy's (and Daddy's) chest
Caught bubbles
Played dress up/dressed up
Walked in God's beauty
Watched fish swim
Swung on a swing
Saw flowers bloom
Watched a parade
Played in a pool
Went to a sporting event (was a part of the crowd)
Hung decorations up on a Christmas tree
Went to a drive in theater
Watched a bonfire
Had a birthday party
Colored in a coloring book
Found Easter eggs
Went to a zoo
Wished upon a star
Was kissed on the forehead
Laughed
Held hands
Made a snow angel
Feels unconditional love
Saw a rainbow
Went to a car show
Heard a live band
Traveled outside her homestate
Floated in a lazy river
Finger painted
Sat inside a petting Zoo (and a goat ate her hearing aid!)


Interesting Facts about Kayli
1. Kayli helped set up a new policy at her school, making it possible for kiddos with trachs to swim in the school's pool!  She was the first kiddo with a trach to ever go in her school's pool!

2. Kayli donated 14" of her hair in December of 2012.  She was the youngest person to ever donate to Wigs for Kids, and with the most amount of hair!

3. Kayli is a very spiritual girl, and has been known to leave her body and visit others.

4. Kayli has been granted 8 miracles of life! The miracles include surviving: Full Trisomy 18, 32 minutes of anoxia, 7 weeks of Endocarditis and Sepsis without antibiotics, a perforated bowel, a surgically misplaced Gtube for 3 weeks, a pinhole sized airway for 3 weeks (resulted in a tracheostomy), a heart med overdose (10X the amount of Clonidine), a Potassium level of 8.2 (range is 3.5-5).

5. Kayli loves to swim, and especially getting her hair wet!

6. Kayli has had 18 surgeries throughout her life, including heart, spine, and abdominal.  Her family has had more than 60 surgeries, and Kayli does not yet "hold the record" for the most surgeries in the family.

7. Kayli has met many others with her same "rare" trisomy diagnosis.

8. Kayli goes to school.  She LOVES school!

9. Kayli's clothes size is age appropriate, but her shoe size is still only 6-12 months!

10. Kayli is the youngest of 7 (including half siblings).

11.  When Kayli was born, she could eat orally, and was fed breast milk for the first 9 months of her life.

12. Kayli's life challenges are directly related to the 32 minutes without oxygen, and have minimal (if anything) to do with Trisomy 18 diagnosis.

13. Kayli's ears were pierced for her first birthday.

14. Kayli has visited 10 states in the USA

15. Kayli wears lipgloss regularly (she has many different flavors to choose from!)

16. Kayli teethed in a typical manner, and she has a full mouth of teeth, but her upper teeth are covered with an overgrowth of gums, caused by a seizure medication.  She will be getting her gums lazored back because the gum overgrowth is causing her jaw to grow upwards instead of out.

17. Kayli had a cleft palate, that closed on it's own and she is allergic to the antihistamine, Zantac (both unheard of, but unique to Kayli)!

18. Kayli does not like the sun, and sneezes every time her eyes are exposed to the sun.

19. Kayli does not like the cracks in the side walk, nor strolling on bricks or any gaps in solid ground.

20. Kayli collects piggy banks and hair bows.

21. Kayli has photo frames and earrings from each monumental place she has visited. The photo frames are placed on shelves in her room, as reminders of family times well spent.  

4 comments:

  1. your love for your daughter is so evident, what a sweet girl!

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  2. I too am a mom of (2) special needs children/young adults. I love they way you have been able to organize and keep track of everything. In actuality our son was born without the sphincter muscle that closes of your esophagus from your stomach. He has been through a lot too. But I just wanted to let you know that he is allergic to Zantag too. He is also the first baby to get the drug diflucan (sp) as a new born. Our girls both suffer brain injuries as well as one being autistic. We are adoptive parents and much of their challenges are due to drugs/alcohol and abuse. I love reading your blog. You have such a positive upbeat point of view. I know that God has bless both of us in our endeavors as mothers. Keep up the good work taking one day at a time.

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  3. I am also allergic to an antihistamine. I'm allergic to Benadryl. Doctors and other medical professionals always give me a bit of the stink eye when I tell them I'm allergic to allergy medicine. :D

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  4. Thank you so much for sharing Kayli's incredible story...
    May God continue to bless your very beautiful family...
    Very sincerely,
    Yoli

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