Genetic testing, here we go

Anna Lily had an MRI back in February and she was diagnosed with mild cerebral palsy, caused by periventricular leukomalacia (basically, brain scarring). Although she’s making great progress through weekly therapy, we’ve just started the process of genetic testing under our doctors’ recommendations because she continues to have hypotonia (very low muscle tone) and is very “loose” when picked up. I feel it’s our responsibility as Anna’s parents to find out what we can for her, for her future. We’re taking it one step at a time, and she is such a tough and happy trooper throughout it all. 

6:25 a.m.: The day begins. Our room and Anna’s room are right next to each other, so I can hear Anna giggling by herself to start the morning. She’s started pulling herself up to stand, and her new thing is batting at the owl mobile above her head, which she finds hilarious. Her goal is to eventually pull it down and cause ultimate destruction.

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6:45 a.m.:  Kev goes into the nursery, and then to the kitchen to prep breakfast for all of us. (He is da best.) Anna’s Breakfast: Slices of organic raisin bread, peach yogurt and oatmeal, boiled egg and some turkey meat, along with prune juice to her milk to help things get going. We adults: two slices of butter-slathered raisin bread and cups of very, very strong coffee.

7:50 a.m.: Kev goes to work, Anna and I head to doctor’s. We’re starting Anna’s genetic testing today with a urine sample. I have no clue what to expect, except that there’s a bag involved.

7:52 a.m.: Two minutes on the unusually packed road. An ambulance zoom by on the freeway, and there’s a daring, law-breaking SUV that chases after the ambulance on the cleared road. People honk at him, I’m a little bit in awe. Anna’s going “GOGOGOGOGOGO!” in the car seat, while simultaneously pointing outside the window going, “WHOSDAT?!”

8:30 a.m.: We park at Queen’s, and there’s no wait at the doctor’s office, hurrah! Our PCP shows us this. It sticks to Anna, and the diaper goes over it:

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9 a.m. – 9:40 a.m. : NO PEE IN SIGHT. Chug, chug, chug! (BTW, other moms, this Munchkin straw cup is the best thing. It has a little weight inside, which lets your baby drink from any angle.)

9:40 a.m.: STILL NO PEE IN SIGHT. We walk around the hospital in the stroller, and I buy a giant brownie corner piece and a lifeless latte. 😦

9:47 a.m.: PEE IN SIGHT! Joel very gently peels the bag off Anna while she makes how-dare-you faces. We get orders for a blood draw that we can head into the lab “anytime,” and I make the gut decision to go right now, while Anna is in a surprisingly awake and good mood.

9:50 a.m.: Anna falls asleep in the car. We drive to Kapi’olani Medical Center, which is 6 minutes away. We head to the basement of the main hospital, where the clinical labs are, and as soon as we step off the elevator onto the floor, there is crying and screaming! Babies, children, everywhere, unhappy!

10:15 a.m.: We’re called in. Lab Lady is so stressed out, and I’m nervous, and blather on: “You guys are busy! Is it like this every day?” (“Yes!”) “So many crying babies, it must be so stressful.” (“Yup, I gotta remember to take my vitamins.”) “Yes, take care of yourself! Your name is Maria? Mine too!” She dons a mask, eye goggles (in case of blood spray?!), gloves and needle to poke Anna’s finger. Just at that moment, Anna’s eyes fly open and she is staring up at Lab Lady, who squeezes drops of blood from Anna’s finger, enough to fill up two vials. Gross. But Anna’s still sleepy, so she doesn’t cry until the very end. And, it’s all done.

10:30 a.m.: GUYS, Lab Lady gives us extra validation parking tickets! #freeparkingftw #itsthelittlethings

11 a.m.: We get home. Anna lunches and crashes out for a 2 hour nap. I devour brownie, crust and all, and save just a little bit for Kevin.

Next up: It’s a busy week, guys. Tomorrow is her eye exam and an initial chiropractor appointment. Thursday is her kidney ultrasound. Sending over of good thoughts, greatly appreciated. 🙂

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