Home 22q11.2 July 16th, 2021

July 16th, 2021

by Summerly Rowlands

Friday, 7/16

Sterling is over it.

He wants to transfer to Cleveland Clinic if this hospital does not hear us out today.

Because they messed up the second spinal yesterday and we now have to redo it for a third time, that means Izzy’s speech appointment gets put off another day due to her not being able to eat before the procedure.

More NPO time. Perfect. Just what she needs.

As the day goes on, Izzy receives a heart ultrasound (echocardiogram). The PICU doctor *tries* to explain her results to us. He uses the phrase “heart abnormalities”, but then says he *doesn’t think* they would cause concern at this point…

Okay, get me the cardiologist to confirm please, because short man doc seems confused himself. (With his unapologetically clueless yet narcissistic vibes, I’d take him above a resident, but he’s low on my totem pole of people I want to work with.)

Back to the neuro floor…


Our (albeit kind) EEG-obsessed & long-winded neurologist is off the clock & we have been given a new man – a man who seems to be no bullshit, direct and to the point. He has looked over everything. He’s taking Izzy off Keppra (one of the seizure meds), he’s recommending her to be on Pepcid (an acid reflux medication), he’s allowing suppositories to help her poop, he’s putting in orders for us to meet with immunology, endocrinology, and dietary, & he’s removing the EEG.


He is also removing the order for the third spinal tap!!! He says no one should have to go through that, let alone a baby. He believes we can wait on the results from everything already taken and then go from there.

Bless you, Doctor.

Because the seizures seem to be managed with meds, they are no longer the main concern. This means that the neuro team will be transferring us to a hospitalist team (aka the hospital pediatricians) that will lead Izzy’s coordination of care. Neurology will remain onboard along with the other specialties we are supposed to see.

Because Izzy no longer had to do her 3rd spinal, she was able to start feeds again, so speech returned. The continuous drip of formula flowed through her NG tube, but speech wanted to watch her try a bottle. Izzy was not able to tolerate this – every time she swallowed, her oxygen levels would dip down. This meant she wasn’t breathing as she was drinking. *Cue haunting monitor.* They suggested trying a slower flow nipple, but because they didn’t have the brand of bottle that Izzy prefers (Avent – a very well known & popular one…), Sterling had to drive home to get ours so that she could try again for them…

Why wouldn’t a children’s hospital carry a variety of bottles?! 🤦🏼‍♀️ Dr. Brown’s isn’t going to work for everyone… (though we quickly realized that speech liked to do everything by the book; very black and white… and that’s not Izzy.)

While these days have been spent asking questions & answering questions, no one has been able to piece together any information or test results to give us a clear answer.

Then we met the geneticist.

She asked about Izzy’s history – we went over the echogenic focus, the seizures, the low calcium, the constipation & reflux. She wrote everything down and told us that her initial thoughts were leaning towards something called “hypoparathyroidism”, but she would be in touch.

She wasn’t gone long.

She came back and said to me, “I saw that Izzy’s newborn screening showed a low T cell count. Is that correct?”

Yes, sorry, I’ve had so much on my mind, I forgot to mention that.

And then she said it: “If I was a betting woman, I’d say this is DiGeorge. We can’t know for sure without the genetic test results, but it all seems to line up.”

That was the very first time Sterling & I heard that name.

It wasn’t the last.

And so the Google searches began…

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