Listening to: Elvis (Costello)
Reading: A million pamphlets about genetics
Writing about: Allyson Mae
A lot of you know that my daughter Allyson had a procedure done in Jacksonville last week.
From time to time I try to explain what the deal is with her health.
I typically say
“She has a lot of persistent, but relatively minor health issues”
“She has a genetic issue that causes a lot of persistent complications”
These descriptions are not untrue,
and they serve a purpose:
they allow me to keep my daily word count down.
Here is an equally short, but much more comprehensive answer:
Mae has a genetic duplication and deletion.
22q 11.2 deletion, VCFS, DiGeorge Syndrome, (all of these names describe the same issue)
When Mae was born she had severe reflux, she never slept (I wrote about this too). She frequently had puke come through her nose. Later she started to get ear infections very frequently. Her speech was slightly delayed and nasal. Something just wasn’t quite right.
So we started with all the usual suspects:
We got her tested for allergies, she has none.
*We keep her off of dairy because it makes a significant difference with her digestion and reflux
We had tubes put in her ears, a few times.
We had someone look at her belly
and On and On.
We looked around for around 18 months.
Then her speech therapist mentioned that she had some characteristics of a kid with a
Submucous Cleft Palate
While tracking this down we came across some specialists in Jacksonville.
A fantastic pediatric general practice doctor had a moment of clarity during a visit.
He called a colleague and got us seen that day.
The genetics guy he sent us to was quirky and brilliant.
He was able to definitively connect all of Mae’s stuff.
We ordered a genetic test, and were finally able to “put a name on it”
Since then we have ruled out most of the most sever and scary implications
(heart problems, kidney issues, severe developmental delay, etc).
And we have made sense of a lot of Mae’s other stuff.
From now until forever we’ll keep figuring out what the diagnosis will mean for Mae.
For now, she is smart, cute, charming, and tiny.
She is a slow eater, she sometimes gets anxious, she is making huge strides in speech.
She is developing well socially
(Thanks in no small part to the fact she spends everyday in a tiny person kingdom)
She got some tubes put into her eyes to help her with drainage (last week)
She has “long term” tubes in her ears
Her slow metabolism makes anesthesia especially touchy,
plus she had a bad experience with anesthesia pre-diagnosis.
She used to bite, probably because she didn’t talk much and was tiny.
She gets what she wants.
She does what she pleases with little to no consequence.
She is the baby.
She is great, and she will be great.