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...

video


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


video

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