"The Top Popper"

Veronika had to do her first Science Fair project this year, and it was a really fun experience! We looked on Pinterest and on-line for ideas and finally came up with this: "The Top Popper: What Brand of Popcorn Pops the Best?" She worked so hard on it and did a terrific job! She won 1st place for 5th Grade at her school, so she got to go to Regionals at Henderson University. She didn't win at Regionals, but she had a fun and it was a great opportunity for her.

22q11.2

I keep this blog for several reasons; to keep family up-to-date on our life, as a "memory book" for us, and sometimes to inform people in our lives of challenges our family is facing.
I assume most of you reading this have no idea what "22q11.2" means, and up until several weeks ago,  neither did I. We've known for about a year now that Phoenix has some mild hearing loss in his right ear, but we just recently learned that Phoenix has a Cholesteatoma in that ear. (Click HERE for more info). Basically, this was a benign growth in his middle ear that attached to and destroyed several bones. He recently had surgery to remove this and replace the destroyed bones. The hope is that he will have near perfect hearing after his healing is complete!
Anyway, back to "22q11.2". So, while visiting with the ENT, Dr. Hartzell, at Arkansas Children's Hospital, I mentioned that I had several concerns with Phoenix and the possibility of a "Mid-Line" Disorder. In the past, I had thought about visiting a Geneticist about my concerns, but we have always had more pressing issues and EVERY doctor I've ever mentioned my concerns to have basically brushed me off. Well, lo and behold, Dr. Hartzell works as part of a Cleft-Lip Palate Clinic once a week with several other doctors, including a Geneticist! At our last appointment we were able to meet with Dr. Schaefer, a Geneticist at ACH, what a blessing! He confirmed my suspicions that there was just cause to proceed with some genetic testing. We took bloodwork that day and expected to hear something within 4-6 weeks. On Friday, April 12, 2013, I received a call from Julie, the Genetic Counselor that works with Dr. Schaefer. She told me that Phoenix had a DUPLICATION on his 22nd chromosome. Dr. Schaefer suspected, after evaluating Phoenix, that he had a DELETION on his 22nd chromosome, so the DUPLICATION was a little surprising. What is even more interesting is that Phoenix actually has a DUPLICATION sandwiched inside another DUPLICATION. Specifically, Phoenix's DUPLICATIONs are found around "22q11.2", this is basically an address of his DUPLICATION. 22=22nd Chromosome, q=long arm of chromosome (each chromosome has a short arm (p) and a long arm (q), 11.2= specific location on the long arm.
Here are a list of issues that Phoenix has/had that are linked to his "22q" Disorder
- Hypospadias (repaired in Surgery 7/2010; Fistula repair 3/2011)
- Tied Tongue (clipped under anesthesia 11/2010 to improve Oral Motor Development)
- Highly Arched Palate (many children with this syndrome have a Cleft Lip and/or Palate)
- Kyphosis and Mild Scoliosis (corrected through Physical Therapy)
- Spina Bifida Occulta (discovered during x-ray in 2010)
- Frequent Ear Infections
- Ear Pit
- Hearing Loss
- Strabismus (eyes drift and do not align correctly, will eventually need surgery)
- Hypermobility/ Poor Muscle Tone (corrected through Corrective Foot Splints and PT)
- Developmental Delay
- Speech Delays/ Speech Apraxia

For more information on 22q11.2 Duplication, click HERE
So, what all does this mean for Phoenix? Right now we will continue his Physical, Speech and Occupational Therapies. We are also looking into placing Phoenix in ACCESS Schools here in Little Rock. This would be a Pre-School set in a Therapeutic Environment where they would focus on his Language Development.  Steve and I recently had blood drawn to undergo Genetic Testing, as this is a Hereditary Syndrome. In the near future, we will visit with a Cardiologist and Nephrologist to evaluate his heart and kidneys. This is because children with this disorder often have issues with these organs, so we want to check everything and get a baseline for future reference. Our goal will be what it is for any child, to keep him healthy and happy as he grows, and to help him face and overcome any obstacles he may face. After researching this syndrome, we realize how blessed we are. Phoenix will be able to live an active, "normal" life. He loves to run and play outside, ride his little four-wheeler, jump on the trampoline, go hunting with his Daddy, and make everyone laugh; having this diagnosis won't change any of that, but it will enable us to better understand Phoenix and give him the best possible care we can.
We appreciate your prayers as we navigate this with Phoenix; pray that Steve and I will make the best decisions for him, that he remains the healthy and vibrant little boy that he is, and pray that Phoenix will seek God's wisdom as he grows and makes his own decision related to his life and medical care.

20 Questions for Violet! Age 5

 Last year I started asking the kids these 20 questions around their birthday. To see Violet's answers as a 4 year old, click HERE. I know we'll really enjoy looking back on these in years to come.

1. What is your favorite color?-Purple

2. What is your favorite toy?- Barbie

3. What is your favorite fruit?- Strawberries

4. What is your favorite tv show?- Madeline (movie)

5. What is your favorite thing to eat for lunch?- Peanut Butter and Honey Sandwiches

6. What is your favorite outfit?- Purple Polka Dot dress that matches Baby Doll

7. What is your favorite game?- Painting

8. What is your favorite snack? – Yogurt Raisins and Applesauce

9. What is your favorite animal?- Kitty Cats

10. What is your favorite song? – The Toothfairy Song (a song that Veronika made up)

11. What is your favorite book?-  Disney Princess Storybook Collection

12. Who is your best friend?-  Evie and Lily and Rylie, Abby, Shayla and Sophie

13. What is your favorite cereal? – Apple Cinnamon Chex

14. What is your favorite thing to do outside? – Ride Phoenix’s Four-Wheeler

15. What is your favorite drink? – Sprite

16. What is your favorite holiday? – Christmas

17. What do you like to take to bed with you at night? – My Baby

18. What is your favorite thing to eat for breakfast? – Cheese Stick and Oatmeal

19. What do you want for dinner on your birthday? –Purple Cow

20. What do you want to be when you grow up?- A Mommy like you (to Mommy)

Violet's 5th Birthday Party!

We celebrated Violet's 5th Birthday this Sunday with a small, family party. She will actually turn 5 next Sunday, but Veronika won't be with us so we celebrated early! She wanted a Barbie theme party and I had so much fun planning it! There were SO many cute ideas on Pinterest and Etsy.

Birthday Cake by Mickey's!

My Birthday Girl! It seems impossible that she is turning 5 years old! And will start Kindergarten in the Fall!

We played "Pin (tape) the Bow on Barbie" The big kids cheated a little and felt around and all 3 ended up right on the spot, LOL!

 

 

I didn't get pictures of all the gifts or guests I just realized! Poppa and Dodi got Violet a Wonderful Barbie House and all her other gifts were Barbie related. All three kids love the gifts and have been playing Barbies non-stop!

The Party's Over :(

Our last night we watched a water show called "World of Color" It was a water and light show and they would show clips of Disney Movies on a screen of water.

Rapunzel and Cinderella waiting in line for a ride.

A worn out Rapunzel and her Daddy!

Heading Home!

This picture cracks me up. I told the girls to smile and Violet grabbed her Egg and Cheese Biscuit and started kissing it! Such a silly girl!

Ariel's Undersea Adventure

Ariel's Undersea Adventure: Pretty sure this was Violet's favorite ride of the entire trip. I know we rode it atleast 3 times, maybe more!

 

Pixar Play Parade

The "Pixar Play Parade" at California Adventures. We got to see lots of characters from Pixar Movies!

Roz from "Monster's Inc."

Mr. Incredible

Jack-Jack and Violet (on the back of the float)

Crush from "Finding Nemo"

A Bug's Life

Toy Story

Mater from "Cars"

Storytellers Cafe

The Grand Californian Hotel has a wonderful restaurant called "Storytellers Cafe." The breakfast buffet is DELISH and lots of fun characters come around to meet you! We ate there Saturday morning. Steve, Poppa and Uncle Josh spent the day at meetings, we ate a nice breakfast, spent some time in the swimming pools and took a nice nap before heading out to California Adventures that evening!

Bear from "Brother Bear"

Chip or Dale, I'm not sure which one. They have different colored noses, but I can never remember which is which!

Meeko from "Pocahontas"

Terk from "Tarzan"

Brother Bear from "Brother Bear"

Disney Makeovers

Right outside our Hotel, in Downtown Disney, there is a store called "Disney 365" where they do Rock Star Makeovers! The girls had so much fun! They got a cool hair-do and make-up.

Violet's hair-do included a hairpiece, she kept her hair like this for a FULL WEEK! I couldn't believe it!

Veronika's hair was so cool, it was styled like a Bow! She had a TON of gel in hers so we took it down that night.