"Rare"

We went from first trimester update to 4 years later. My bad guys, its been a heck of a ride. I'm pretty sure you'll be understanding. Let me just jump right in.

 

10/17/2020

Theodore David Wright made his arrival into the world. 

Mostly healthy baby.

Semi healthy mom.

December 2021 Jump to nearly a year later and Teddy has his first surgery. Tonsils and adenoids removed along with tubes placed in his ears.

Then 6 months after that I requested an Autism evaluation.

We had to wait a while for that to start then the process itself took about 3 months.

 

So a couple months before Teddy's 3rd birthday we received his Autism diagnosis.

Teddy attended ABA almost immediately after finding out.

At Teddy's 3 year wellness check, October 2023, another surgery was recommended to us. He underwent that surgery in January of 2024.

Around March of 2024 Teddy got his first set of stitches by accident. I also realized Teddy could not rotate his left hand under to make his palm face up. That led to a Radioulnar Synostosis diagnosis and surgery.

I still felt like there was more to know about Teddy so I requested genetic testing.
Also Teddy is diagnosed non verbal, somewhere in all this he started speech therapy...but all that to say, he cant tell me how he feels. That is concerning to me. The genetic testing may be able to tell me things that are affecting Teddy that he cant relay.

September of 2024 we met with the genetic doctor and sent off cheek swabs.

In November we received Teddy's results.

One positive result in his whole genome sequence.

ERF gene

Syndromic Craniosynostosis

Variant c. 460dup p.(S154Ffs*35) 

Heterozygous

De Novo Inheritance

Pathogenic Variant

And this is where we are now, December of 2024.

All I keep hearing is how RARE this diagnosis is, how RARE this specific gene type is... so here I am, hoping by sharing our story that maybe we can help someone else out there who has nothing else to go on. I'm going to try to post Teddy's story, little by little or else it would be far too overwhelming to consume. Ending this post now because I just got a text to schedule his 3D head CT scan. 

Please send prayers for our family and my sweet sweet Teddy Bear.