What this diagnosis actually means

So, what does this diagnosis actually mean?

Short answer: we don't know.

This condition appears to affect each individual differently. Infuriatingly so. It would be so much easier to have a definitive list of what we can expect. Still, in the short time I've had to research T9p, I can say that most people with the condition experience similar symptoms:

* developmental delays (ranging from mild learning disabilities to full-on intellectual disabilities)
* joint problems (like hip dysplasia) and underdeveloped bones
* facial characteristics like broad nose bridges and larger ears, and downturned eyes
* tethered spinal cords
* speech delays or complete non-verbal communication
* seizures
* heart conditions

There are more but those seem to be the most common. Sproglet does present some of these in varying degrees (the hips, the underdeveloped bones and the spine thing are the big ones). My biggest concern at this stage is the intellectual disability. But honestly, if you look at my baby, you see a bright eyed, curious little girl who loves to connect with and chat with every person she comes into contact with. Honestly, I've seen more strangers just crack up in delight whenever they look at her, and she looks them straight in the eye and emits the loudest and most adorable "SQUEEE!" sound. She really knows, at 5 months, how to make complete strangers feel like the most important person in the room. She's displaying a skill set that most adults don't have at an incredibly young age.

She's also keen to learn. As of this writing, she's learned to roll from back to front. So she has the capability to learn; albeit maybe a bit slower than her peer group.

So my plan?

Just keep on keepin' on. She started with Early Intervention this week; they will work with her on developing skills like communication, muscle development and learning.

This week she's undergoing neurological testing to get a baseline on brain activity, so that if she ever experiences seizures, we'll know what to look for. Same goes with cardiology- they'll be looking for holes in her heart or any other weird heart conditions that we'll need to be aware of.

And later we'll get and MRI to determine what needs to be done, if anything, for her spine.

I admit, I still have moments of self-pitying emotions. Why my kid? I hate to think she's going to have challenges. But then I remember: EVERYONE  has challenges. There are worse things than having or being a child with a genetic abnormality. Way worse. WAY, way worse.

I read this quote last night right before bed that struck me:
"Motherhood is about raising and celebrating the child you have, not the child you THOUGHT you would have. It's about understanding that she is exactly the person she is supposed to be. And that, if you're lucky, she might just be the teacher who turns you into the person you're supposed to be."

Damn, I'm crying again.


I'll update again after Sproglet's appointments this week.

'Til next time.