And before I get back to the story, there were a couple questions, so I wanted to throw the answers in here, even though I replied by email, in case they're helpful or interesting to others.
- What was the heart defect that Braska had? She had complete AV canal, sometimes known as AVSD in simple terms. She was diagnosed the day after she was born and had surgery to repair it at 3 months. It was a large hole between the upper chambers and another between the lower chambers, and both actually meet to make one hole. She also had some valve issues since there was nothing for one side of the mitral valve to attach to, so they repaired all that in one surgery… 9 ½ hours. But she’s been peachy ever since!
- Why so many (appointments)?? We just see her reg ped once a year unless she is sick. Much of what we do on these day-long adventures is preventive medicine. In other words, it's making sure we're not heading toward problems, not so much dealing with current problems. But some are to keep tabs on issues already in the making. Since she had heart issues and surgery, we follow with the cardiologist. The GI is because she has a G-tube/button, so he makes sure all is well with that. We see the eye center because she has a couple of common eye diagnoses and wears glasses, so they make sure things aren't getting worse. ENT is largely preventive, in that she's not had any ear issues, but they can occur with DS due to the very small ear canals. The DS specialist just kind of keeps things organized and makes sure we know what we need to look for in the near future, and they also do all her lab orders to check for common issues with DS that can show up in blood work, like thyroid problems, Celiac disease, and such. Audiology is preventive as well, to make sure that there are no hearing issues developing, as that can be common with DS as well. I've never found that a regular pediatrician knows enough about the difference in the physical issues of kids with DS to suffice. I'm sure they exist, but I wouldn't do without someone who is actually an expert in this particular syndrome and all it can mean. Our pediatrician is nice, we only see her for well-checks since Braska's not been sick, but she has hardly any patients with DS and is not up on the recommended protocols for lab checks and particular issues. So we stick with the DS Center for that. Not everyone needs all these specialists, of course, but again, a few of them are preventive, like eyes and ENT.
Ok, now back to the big long day of docs...
After the echo, we finally went down to the cafeteria to grab some lunch. We had about 30 minutes til the next appointment at 1pm, so I didn't want to try to fit in the audiology visit that we had postponed earlier since I really needed to eat. Here's all you need to know about lunch... onion rings. Can I get a witness? Jen, I know you're with me! SLCH onion rings--yum-o!
Eye Center: Backstory--Braska started seeing the eye center at 6 months, which is recommended for kids with DS due to the commonality of visual issues that can occur. She saw Dr. C, the ophthalmologist, due to her nystagmus (kind of an eye wiggling) and she noticed that Braska was just starting to show some esotropia (eye turning inward, like crossing on one side) but it wasn't bad. At her 12-month appointment, we saw the optometrist as well that works with Dr. C, the esotropia had worsened and they determined that she needed glasses. She was crossing in order to try to focus, and she was very farsighted. So we got glasses and she's been amazingly more interactive ever since. Back in March this year, I wondered if she needed a new prescription, and we had her checked, but things were ok.
We got back upstairs to the eye center at 1pm, and the place was packed. I'd never seen all these waiting rooms so busy as they were that day! This is what I get for saying we never wait in this clinic either. It ended up being after 1:30pm before we were called back. Dr. R listened while I explained what she's been up to, looked at her, and dilated her eyes. We returned to the waiting room to allow the 30 mins to pass so they could do the exam to check for her correct prescription. This time, the exam showed that she needed a new prescription, so new lenses are in process. (They don't do the actual glasses stuff there at the SLCH Eye Center, as far as ordering and all, so we go to another place for that, one that specializes in infant eyewear, St. John's Mercy Eye Clinic--For Kids Only.) We got out of the eye center in time to head over to Suite C once again where GI was now seeing patients.
GI (Gastroenterology/Gastro-intestinal issues): We got to GI about 15 minutes before our appointment time at 3pm. This is the one clinic I sometimes wait in. I ran upstairs to audiology to let them know I hadn't forgotten to come back, just that we'd not had any breaks as I'd expected. They said to come up after we got done in GI. In previous appointments with GI, it's not been unusual to wait 25 minutes after my appointment time to get started. Of course, as the entire day had gone, I was wrong in my prediction, and we got taken back early. First the fellow came in (doctor training in that specialty) and she chatted with us about how things were going. Then Dr. R came in as well. He felt she was doing well. Her only med is an over-the-counter one for mild constipation issues. That's all in check, so no problems or changes there. Her button looks good, so we only needed to check a couple labs to be sure all the internal matches what we're seeing. They added those labs to the order we had from the DS Center and said to come back in 6 months. He is still concerned about her eating issues, obviously, but since we're seeing nutrition and speech and OT, we'll stick with that for now. He does want to do a couple tests in the next few months, so we'll be setting that up, though I don't know that Braska will cooperate with these. We'll see how the next months go.
Audiology (Hearing test): We got back up to audiology just in time to get in for a hearing test prior to them being done for the day. Unfortunately, Braska had finally fallen asleep on Grandma C in the 5 minutes between visits... poor thing. What a long day! I was afraid she'd not cooperate at all with this process, but we woke her and decided to give it a try. She has not been at all interested in doing this game of looking in the direction of the speaker where the noise comes out in the soundproof booth. I figured with her being so tired, this would only be worse. We started with the tympanogram, which they always do, and we always fail. For a typical child, this would indicate problems like fluid behind the ear drums, and could indicate a hearing concern. For Braska, and many kids with DS, this just means... well, nothing really. Their ear canals, like Braska's, are very narrow, so the tympanogram cannot behave like the test expects it to. Since we'd just had her checked out that morning, and no fluid or any concern was present, this test is really meaningless. But they like to do it, so we let them. It's quick and painless, so I didn't argue. Then we went into the little booth. She ended up doing much better than she had before, and it was a pretty successful process. We go back in 6 months to do ENT and audiology again, as expected.
Lab (Blood draw): Finally it was time to hit the lab and be done. We went back downstairs and gave them the order. I do ALL Braska's labs at Children's because they're that good. I can have her drawn 5 minutes from home or drive 30 minutes to Children's to let them do it. And I'll drive the 30 minutes every time. Each time we've been there, they have gotten her on the first stick. That's RARE with my skinny little thing. I can't tell you how many times other phlebotomists have had to try 3 and 4 times before we found SLCH. So we go there. And we have a favorite tech, who has even drawn Braska without her shedding one tear or making a sound a couple times. That is worth everything. This time, I saw our fave, but as I was way weary from the day and not thinking straight, I didn't make the request to have her. So we got the other one that was there. She's nice, but I should have stuck to the plan and gone with our fave. We went back, Grandma C stayed in the waiting room by choice, and as feared, she had two sticks. The first one she got in there and then "fished around" as I call it, causing Braska to scream. I let her try the other arm, but I wasn't going to allow any further one if that didn't work. Thank goodness it did. But poor Braska was so tired that she just fell apart. We were finally headed home, after a pause to calm her down and get some more milk in her belly.
After a stop to pick up Shay at Cheryl's house and then dropping Shay and Grandma C off at home, we headed back north toward home. A long day, yes. An unusually crazy day at SLCH, yes. But SO worth it to have great docs and coordinated care to make sure no bases are missed. We moved in order to be nearer to these doctors and that place, so we obviously think it's that important. This particular day did not go as smoothly as planned, but we made it through.
As a follow-up: Braska had some abnormal lab results from the draw on Tuesday, so we went back on Friday morning for another one. (This one was with our fave tech and went very well. No tears or crying at all.) We don't have those results yet, but we'll let you know. As far as we know, the thyroid and Celiac tests were all good.