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: