What an utterly exhausting day today was. We spent all day up at Primary’s doing first a swallow study (she passed!), and then met with the cleft team to try and figure out what is going on. It was an interesting experience. We first met with the plastic surgeon and then the geneticist and they both immediately (but still unofficially) diagnosed her respiratory/swallow issues as Pierre Rodin Syndrome, with plans to do a major surgery to pull her jaw forward (mandibular distraction). I’ve never felt that Tiny’s jaw is abnormally recessed (it definitely is somewhat), but they seemed to think so. So although there are several different associated problems with this syndrome (feeding tube for a LONG time, myopia, glossotosis, there are usually no cognitive impairment related to it, and for that, I was incredibly relieved to hear a prognosis that did not involve neurological issues. I was however, somewhat nervous about jumping into such a huge surgery so suddenly. I was feeling like they were jumping the gun with this diagnosis without almost any true observation of her. I’m sure they would have tested her further before an operation like that, but I was TOTALLY RELIEVED when we wrapped up the whole visit with the ENT, who contradicted the other doctors and said he believed Tiny’s diagnosis was Laryngomalacia, aka a floppy airway that causes respiratory obstruction. He recommended surgery immediately to fix it, but it’s a FAR simpler, safer surgery, and would improve her breathing/swallowing immediately. I like this diagnosis best of all!! So that’s the plan. We’re going to begin bottle feeding every few hours to try and get her used to swallowing again (she’ll remain on the tube still), and hopefully wean her off eventually. We’re going to try and schedule the surgery ASAP, and we’re also doing a CGH micro screening to look for chromosomal absences. I feel really good. I feel like we’re finally addressing all her symptoms, and I’m hopeful that things will get better from here.
These sweet shots were taken last night as I was changing Tiny; I got up to get her a new sleeper and came back to find Twinkle and her sharing this very intense and tender moment. I’m feeling so grateful right now that things are starting to fall into place, and that we’re on the road to better. I don’t know that I could put into words all the stress I’ve been feeling regarding all the unknown of her situation, so to be here with a plan and some hope is feeling pretty great.