Home 22q11.2 July 19th, 2021

July 19th, 2021

by Summerly Rowlands

Monday, 7/19

EEG is on. Neurologist came by and told us all good from his end – keep on the Phenobarb because it’s working and she’s not seizing! EEG is off.

Upper GI complete. This is a noninvasive procedure where the patient swallows barium and an x-ray shows the liquid in real time going down the digestive tract from esophagus to stomach and small intestine. In Izzy’s case, it was used to see why she’s throwing up so much. Swallowing caused her to desat a bit afterwards, but she did great taking the barium from the bottle.

Results show that all is good with her anatomy, and she definitely does have reflux, more so than the average baby, but it will work itself out over time. According to our GI doc, Izzy must be 100% nutrition and 0% IV fluids in order to go home. NPO until tomorrow’s swallow study with speech therapy.

The genetic specialist also came by and said she put in for us to get our DiGeorge results sooner than the normal wait time since Izzy is so young. I asked her about the echocardiogram and she agreed – no heart defects. She is going to contact immunology to meet with us since they haven’t yet.

Lastly, we met with the endocrinologist and we feel very encouraged by her. While she does think that Izzy has hypoparathyroidism (with or without DiGeorge), she believes it is likely to be a mild case since there are no heart defects. Treatment would solely consist of taking Calcium and Vitamin D at home. She even mentioned Izzy *possibly* outgrowing the parathyroid issue after infancy due to her body producing the hormone (albeit a small amount). Some bodies don’t produce it at all so the doctor said it is very reassuring that Izzy’s does.

If the endocrinologist is correct in her thinking, then we will know 100% that Izzy’s seizures were caused by her low calcium, and therefore, no seizure disorder.

We know that we will be here “at least a few more nights”, but we don’t have any definitive answer on that timeframe.

While some days feel like we sit and wait and get nothing accomplished, other days like today feel nonstop with doctors & tests. I’d gladly take this type of day over the other. Get things done, receive answers, make plans. And today’s outcomes all seem to be positive!

Feeling good.

Moving forward.

It’s about time.

0 comment

You may also like

Leave a Comment