22q11 clinic was supposed to happen in June, then July and we finally went today.
Sleep Study was supposed to happen in July, then August and we haven't rescheduled yet.
Pulmonology happened as scheduled last week.
Updates without a lot of flair because I don't have a lot to give. This summer was better because of CPAP which means Lydia is sleeping safely now and her last surgery really helped improve her sleep apnea. She wasn't nearly as sick this summer, several things at play there. But, her lungs and the battle between her trachea and her aorta. Bums. Me. Out.
At the 22q11 clinic we see...
Audiology: Hearing was great in her post-op visit back in January maybe. Did not recheck since she's been congested and had ear drainage late last week.
Endocrine: So good! My favorite specialty these days. Growth Hormone Injections are working! Lydia took a hand x-ray today so we can know her bone age and compare it to her actual age. Also, got some labs drawn for thyroid and calcium. Lydia is 3'10" and 45 lbs. The only thing to monitor here is weight gain as we start on ADHD meds this fall. We don't want the stimulant meds to suppress her appetite too much.
ENT: Pretty good, all sinus and respiratory infections considered. Surgical intervention from last summer is working like a charm. Some nights Lydia is so quiet I have to listen for the hum of her CPAP machine to know she's in her bed. Ear tubes still holding strong now that they are the T shaped ones. No scope today but also no real reason to scope. That's a first.
GI: All good. GI doctors love that all she drinks is water. GI and her dentist loves it too.
Immunology: All good, we think, but are testing a few more things through labs. Lydia was sick in Dec, Feb, April, May...had oral steroids, Augmentin, inhalers, etc. Lydia started a maintenance inhaler in June, a steroid, and when she had a bug in July and August she didn't need the doctor or antibiotics. She did have a bug last week with an ear infection and got amoxicillin to go with her ear drops. All that sounds like a lot of illness, yes, but also improvement on how sick she gets and what is required to get better. Yo, go get your flu shot.
Genetics: Nothing new, we know what we know about 22q11. They are doing more research these days at CMH related to 22q11 - that fancy new building and all. They really want Dan and I to test. We won't. We decided before Lydia was born that if either of us carried this deletion and gave it to her we didn't need to know. If you have 22q11 you have a 50% chance of passing it to your children. The greatest likelihood is that this happened all on it's own and only Lydia has it. We're just sticking with that for now, even though it would help research and I love science, but it wouldn't help our peace of mind if it weren't the result we want to believe.
Psychology: Am I sure glad Dr. Robertson was there today. We talked about Lydia's morning drop off separation anxiety and how it's really been since preschool to some degree. Sometimes a change in routine helps it a bit but not long term. That got her thinking, maybe it's not anxiety, maybe it's a learned behavior - a response to a trauma of some sort in the early days that Lydia may not even have a memory about. We're going to meet a few times and try to figure this out and improve drop off. All those parents watching us from the carpool lane...show is about over!
Speech: Check! Improving Rs and Ls which is developmentally appropriate. No worries.
We always try to see Cardiology the same day as 22q11 because what's one more specialty? But first, pulmonology update. We don't see Dr. Escobar in the 22q11 clinic but he's quickly becoming our most visited doctor.
Pulmonology: Lydia's got some flop in her airway and lungs. Tracheobroncomalacia. They do this breathing test and it's supposed to read out with a curve that looks like a ski slope but Lydia's doesn't peak. It just stalls out and plateaus like the top of that gorge in the Lion King when Mufasa dies. Anyway, all this, plus scar tissue in her lungs, is causing her to not take full deep breaths and exhale fully or cough and get the junk out of her lungs. This can make an infection extra tough on Lydia and is why she is on a daily inhaled steroid. Also, why she has a breathing device called and Aerobika which rattles her airways to try and make her cough more productive. She has a baseline chronic cough.
The other trouble with pulmonology is that her trach site scar is making her trachea more of a triangle shape than a circular shape. Not a huge deal but something to note. More than that, her trachea is collapsing a bit farther down because of her aorta. Her original aortic arch repair is oversized and her chest cavity is still small, so her blood pressure (normal!) is pushing on the trachea which is not super strong tissue and causing it to be more of an oval or pancake shape. What's more important, breathing or heart function?
Cardiology: EKG - great! Echo - great - as in, her repairs are all functioning and there is no worsening of valve leakage, pressures are good. So a really good report from cardiology, just continuing to watch. When I ask Dr. Shah if he's spoken to Dr. Escobar or exchanged notes, the answer was no but now they're gonna talk! I asked him about the aorta and the trachea situation. He's not a super funny guy, pretty serious, and he says, "Well she has one aorta and two lungs, so I think the aorta wins." Dang! We're bonding after 7 years, we've got jokes - which I appreciated. Really though, there is no easy intervention. Intervention is another reconstruction of her aortic arch repair with non living tissue that won't grow with her and would guarantee another procedure down the road. That would almost be considered "cosmetic" at this point and would never fly - no surgeon would do that. Her quality of life is not impacted by this aorta/trachea battle and we won't act until it is. Yes, she has some struggles and complications but nothing major, no restrictions.
So, what's more important, the aorta or the trachea? I don't think I'll get either doctor to answer that. They have to play on the same team, Team #love4lydia.
We ended our 7 hour appointment day with labs. Yep, I save them until the end and she doesn't ever see what's coming, then she flips out. I just wrap her up in a pretzel hug and we get on with it. Then we ate a giant Chiefs sugar cookie from Best Regards. This kid is a champ.
These are pictures from Lydia's first outpatient echo when we visited cardiology every 4 months. October 2015. And today...
