Aushay's Journey with Rubinstein-Taybi Syndrome, CP, Autism and epilepsy

04/12/2025

After years of unanswered questions, Thursday’s MRI might have just given us the first real clue. Aushay’s neurologist thinks he may have a tethered spinal cord—a condition we’re learning is far more common in Rubinstein-Taybi syndrome than we ever knew.

This is big. Like, life-shifting big.

We’ve spent the past two years chasing dysautonomia symptoms—back pain, leg weakness, bladder changes, fatigue, the increasing need for his wheelchair—and while that diagnosis still holds, something has always felt like it wasn’t the full picture. Now, there’s a real possibility that some of what we’ve seen might not be purely neurological, but structural.

We’re both relieved and emotional. Having a potential explanation feels like hope... but also brings big feelings, big decisions, and a long road ahead.

We’re working closely with our medical team to move forward, with urgency, and possibly involving neurosurgery. Please keep our sweet boy in your thoughts as we take the next steps. 💛

04/10/2025

And so it begins. This kiddo has been undergoing procedures since he was three months old. Even though we've done our best to create the most trauma free experience, this is inherently traumatizing. They now give him an initial med for nerves which knocks him out before the procedure that way we can do anesthesia via mask versus IV. He is out cold and just got put under

Now I wait. Spine and brain MRI with contrast, approximately an hour and 10 minutes.

6th appointment or procedure for him since Monday, it's spring break..

12/22/2024

Aushay's favorite time of the year! The Polar express is single-handedly the most important event, if you ask him.

Grateful we were able to receive a grant for first class tickets on the Polar express through By The Bay Kids, our palliative care team.

We rode in the French quarters and had lots of space which proved to be a viable decision as it relates to sensory overwhelmed in general regulation of nervous systems.

We were fortunate to have three of the six grandparents go with us.

07/17/2024

Aushay just started the EEG here at UCSF. Hoping to get a better gauge on how the ketogenic diet and current medication protocol are going. It's been a year since we've done an EEG.

This has been a pretty complicated summer healthwise for our sweet boy so hopefully this is the beginning of so much needed transitions.

04/24/2024

This has been a game changer

I’m back!!! Hello everyone! After being locked out of this page for the last year and a half, I have finally regained access to this page.

I am excited to continue to share information and stories about Caroline’s Cart and share exciting updates that I haven’t been able to share from the last year and a half!

- Drew Ann Long

04/24/2024

THIS

Autism Spectrum
It's a circle not a line.

Not like this:
Less Autistic
*a line*
More Autistic

Characteristics manifest in different ways for Autistic people.

More like this:
•Sensory
•Communication
•Social differences
•Executive function
•Special interests
•Repetitive behaviour
•Perception
•Motor skills
•Masking and compensation
•Other

Seen on Autism Support Community

03/29/2024

Aushay continues to impress me! He went into his toenail extraction feeling quite brave today.

We are in the recovery room and he's just starting to wake. We'll take the next week to recover .

03/23/2024

So much love and respect for the caregivers ❤️‍🩹🙌🏽😘😚

I see you taking your kid to therapy while your friends take their kids to football or ballet.

I see you sneak out of the conversation when all your friends boast about achievements and exam notes.

I see you juggle events and meetings.

I see you sitting on the computer for hours investigating what your child needs.

I see you make a bad face when people complain about what looks like nonsense.

I see you disappear little by little but you keep going beyond for your family.

I see you pull strength from weakness with a force you didn't even dream you had.

I see you showing respect for teachers, therapists and medical professionals who help your child and help you.

Watching you wake up early in the morning to do it all again after another chaotic night.

I see you when you're on the edge of the precipice struggling to live.

I know you feel invisible, like no one notices.
But I want you to know that I see you.

I see you push forward always. I see you choose to do everything you can to give your child the best care at home, school, therapy and the doctors.
What you do matters. It's worth the struggle.

On those days when you wonder if you can make it one more minute, I want you to know I see you.

I want you to know that you are beautiful.
I want you to know it's worth it. I want you to know that you are not alone. I want you to know that love is the most important thing, and that you are the best at it.

And in those days when you see an improvement, those moments when hard work has its reward, and you can taste success, I'll see you then too.
And I'm proud of you.

Whatever day today.....you're doing it right.

And I see you. ❤

✒ Alethea Mshar
📷 John Walker / Flickr

01/26/2024

Equine therapy today went well 🐎 🤩

11/22/2023

May you find warmth and connection this holiday season 🌹

09/14/2023

This spring our family was chosen to work with a medical organization creating direct support for families with Lennox-Gastaut Syndrome(rare epilepsy). After spending a weekend in Dallas as a member of the Caregiver Advisory Board we were hosted for a weekend in the Oakland hills where we worked with a professional team helping to capture the life, trials and successes of 4 families with children living with LGS.

Please take a look...we are featured all through out this and all of the content is directly from our interviews and the other families. This was such a treat and I'm loving how these opportunities continue to bless Cameron and I. As full time caregivers for Aushay, we take our role very seriously and love that we can possibly help other families struggling.

Here is the link to the website: https://www.shineforwardwithlgs.com/

09/13/2023

Physical therapy to improve core strength, balance and endurance. 💪🏽🥷