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

10 comments:

Vilate said...

Damien! You are so cute and make a very good ninja turtle. So glad you have found another family.

Aaron Vela said...

Thank you so much for the great words about my Damien. He is very special to me and would like to meet yall as well as other families.

the2boys said...

How do I find support for our family

Caitlin said...

the2boys, please email me at brsfamilies@gmail.com

Boaksey said...

I live in the UK and my son has just been diagnosed with a mutation in ASXL3?! I know very little about it at the moment as we are awaiting an appointment with our geneticist for an official diagnosis and more indepth explanation of the condition. I would be very interested to hear from other families or medical officials who may be able to help with more information!!!

Samantha Groulx said...

My son, Jase was just diagnosed with ASXL3 two days ago. We are from Michigan and I am desperate for information since he does not have his follow up until September 22nd.

Boaksey said...

Samantha, will you get an appointment with a specialist who can explain everything to you. We should get one by the end of the year hopefully. I hate not knowing what it all means. There is very little info on the Internet.

Caitlin said...

Boaksey, please email me at ASXL3families@gmail.com We also have a Facebook group for families whose children have been diagnosed.

cristina said...

Hi all..my son was diagnosed today with ASXL3..i wait for an apointment end of month with his genetist to find out more about this..im glade i can find informations here..we are from cyprus..

cristina said...

Hi..can i have the facebook name?thank you so much