Tuesday, March 04, 2014

I Love Someone Who Is Rare

February 28th was Rare Disease Day. The Global Genes Project states that Rare and genetic diseases affect 1 in 10 Americans, 30 million people in the United States, and 300 million people globally. Over 7,000 distinct rare diseases exist and approximately 80 percent are caused by faulty genes. The National Institutes of Health estimates that 50% of people affected by rare diseases are children, making rare diseases one of the most deadly and debilitating for children worldwide. http://globalgenes.org/

Tuesday, February 18, 2014

Sissy Is 7




 For Della's birthday we took her to Target and let her pick out her gifts. It took at least 30 minutes as she indecisively vacillated between 3 toys. Chad caved and bought her two toys (Dora and Lalaloopsy Baby). Afterward we took her to Baskin-Robbins where she could enjoy her favorite dessert, mint-chip ice cream. 



And let's not forget this handsome boy (who needs a haircut)...


Thursday, February 13, 2014

Merry Christmas Darling...Happy New Year Too

Are you singing The Carpenter's song now? OK, good. You may continue on...

This year Archer emailed us his wish list complete with direct links to each item. The majority of things Archer wanted weren't wrap-able. In fact, they weren't even tangible. He did get 3 new pairs of socks (not on his list) which will make an appearance later on in this post. Besides the socks, he ended up with some After Effects Plugins, a few tutorials, and a how-to video for a super cool magic trick. Chad wrote down each gift on a note card and put them in envelopes under the tree. Archer was pretty stoked...



Sis got some Monster's University toys...


She was also pretty stoked...


The past three years we have gone to the Houston Museum of Natural Science on Christmas Day. We really like doing this because the museum is practically empty and we have free reign over the exhibits. Unfortunately the museum was closed on Christmas and even more unfortunate, we didn't know that it was closed until we pulled up to the parking lot. But being the resourceful parents that we are, we quickly thought of something else to do before our kids (Della) freaked out. We decided to walk around Hermann Park which has extensive grounds (140ish acres) and is located right in the middle of the city. Here you can see Sam Houston astride his noble steed...



The first thing Archer did at the park was lose his aforementioned socks...

We spent most of our time in the Japanese Garden where I snapped a picture of a bee on a camellia (one of my favorite flowers)...

 Della was obsessed with the koi pond and somehow she just knew that Japanese koi love to eat pine needles. She spent most of her time helpfully pointing out the fish and throwing fistfuls of pine needles into the water. The park rangers were thrilled...


Della also made many attempts to swim with the koi but Dad put a stop to that...




We were disappointed that the museum was closed, but we had a nice Christmas spending time together with as a family...


Houston Museum of Natural Science: Take 2

We were able to go to the museum on New Year's Day. My favorite exhibit was the treasures of Russia's Czars; specifically the works of FabergĂ©. The kids thought it was "meh." Chad took this beautiful shot of a gold and diamond egg...




We saw an authentic T-Rex skeleton...


Della was less than impressed with the petrified wood display...


But the boys liked it...


Archer and a Cro-Magnon...


And with an impressive sarcophagus...


All Della wanted to do was see the butterflies.


The first video is of Della catching a butterfly mid-flight and then immediately ripping it's wings off...

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And the second video is of Della not sharing her pumpkin pie shake with anyone...


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Thursday, January 16, 2014

Another ASXL3 Family!

It's finally happened! We have met another family whose child has the same ASXL3 genetic mutation that Della has! I also learned that the disease has been named Bainbridge-Ropers Syndrome, so I will be using that term as well. Anyway, Dr. Bainbridge contacted me last week and offered to facilitate contact and networking with some of the families of children who have the same diagnosis as Della.

And that's how we met Damien!


 Isn't he adorable?!? Look at his eyes! I already love him!


It was so validating to talk to Damien's awesome mom Maryjane. It was surreal to have someone else whose child does so many of the same things. My favorites were "Does Della do the 'Stevie Wonder' head shaking thing?" YES!!!! "Does Della laugh for hours and sometimes late into the night for no apparent reason?" YES!!! They grind their teeth, play with hair, hate the word "no", have a high pain tolerance, a little naughty streak, are non-verbal, extremely picky eaters, are obsessed with water, love to play with balloons, and are in OT, PT, and Speech. The list goes on...

The community of Special Needs parents have been amazing in offering support, resources, and most importantly a listening ear. While Della has a lot of Autistic traits, she doesn't have Autism. We've always been kind of one apart from groups with a diagnosis. But now there is someone who I can talk to about the symptoms that are unique to this syndrome.
It's been somewhat lonely for a few years, but Maryjane has erased all that. Which brings me to my next point...

We started a subReddit for ASXL3 and Bainbridge-Ropers Syndrome families. It's a place where we can share our stories, talk about our children, compare symptoms, and exchange "tips and tricks" that might help others. It's a place for the newly diagnosed to no longer be alone. Chad and I want to create a resource that we wish we could've had. Families with this syndrome no longer have to face this on their own anymore. Damien lives in San Antonio and we are hoping to meet up soon. Maybe someday we can have a whole group of families come together. Truly we are blessed to live in a time where whole-genome sequencing is available.

Here is a link to our subReddit. I have posted it in the sidebar of the blog along with an email address where we can be reached: ASXL3Families@gmail.com

Saturday, December 14, 2013

It's Beginning To Look A Lot Like Christmas

Chad continues to send me pictures of the kids with funny captions on the days I'm at school. Here is one of Little Sis...



Archer dropped his glasses down the storm drain. No one is sure how they got down there...


 I was down at Sprinkles Cupcakes and a news reporter stopped and asked if I would answer a couple questions on camera! She asked for my thoughts on stores decorating for Christmas before Thanksgiving and I gave some brilliant answer about how I didn't really care. It aired the next morning around 6:30 AM but I was already on the bus headed for school. Someone in my 8:30 AM class asked me if I had been on the morning news. A few minutes later, someone sent me a text asking me the same thing. That afternoon Chad went to the school for our yearly meeting with Della's "team" and a few of them said they had seen me on the news. Random! Who knew so many people watched the same local news channel? 

 My grandparents came all the way from California to visit us over Thanksgiving. Della was thrilled to have snuggle companions on the couch and Archer was even more thrilled to have a captive audience for his card tricks. We had such a wonderful visit with them and it was hard to say goodbye...

Grandma made a delicious Thanksgiving dinner. She did most of the cooking by herself while I finished two term papers. The turkey was probably the best I've ever had and even Archer ate some of it. He also contributed his hand lettering skills to make place settings for everyone...

We got to see Santa at our church Christmas activity. Archer (who is no longer a believer) immediately tried to amaze Santa with a card trick. But much to his surprise, Santa also dabbles in card tricks. Archer was speechless, which is a rare occurrence...

 Della has made Santa her new boyfriend. He offered her a candy cane and she was smitten...

We volunteered Archer to be a shepherd in the nativity and he was a (reluctant) good sport...


My littles and me...

Sunday, November 10, 2013

School Days


Archer started 4th grade and Della has moved up into the Life Skills class. Here they are on the first day...


I also started school at the University of Houston....


Archer made me a special drawing for the front of my binder. It says "Finn! Brainiacs are Fragile!!!" and has some of his favorite characters from "Adventure Time." I smile everytime I look at it...



I am at school twice a week for about 10 hours a day and Chad has taken over getting the kids off to school when I'm gone. Every day he sends me pictures and updates of how the morning is going. Here is a picture of Sis on the bus...


And here is a picture of Archer on a day that he went to the school nurse saying he was "sick" and needed to go home. He's already done this twice and both days have coincidentally been while I was at school and Chad had to pick him up...



Chad has been so supportive of my going back to school. I could not do it without him. He has stepped in and taken over chores, getting kids to school, and taking them to their various activities. And of course he does this all while working and providing for our family. Sometimes I worry he is a better mom than I am! In what little spare time he has, Chad will send me funny text messages and emails throughout the day. I sent him a picture of my student ID and he whipped up these new ID's in Photoshop and sent them back to me...




As if he wasn't thoughtful enough, Chad got me this super cute backpack. He even purchased some vintage Girl Scout patches from eBay and the SEWED THEM ON HIMSELF! Seriously?!?! He's the best...

Chad and I have acquired some school spirit and last month we went to the UofH vs. BYU football game. It was a really good game. No seriously, it was really exciting with lots of scoring and great plays. Unfortunately we lost by one point in the 4th quarter and I honestly felt sadness in my heart about it. To add insult to injury, our family also watched the game but they were all rooting for BYU. That's OK, there's always next year! Go Coogs!


I leave you with videos from the kids' hoedown at school. Only in Texas do they have a square dancing unit in PE. The first video is of Archer. I'm having trouble with Della's and I'm working on it
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