A good, long day

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.

 

 

 

 

 

10 Comments

LeAnne B

I am thrilled for your good news! You’ve been in my thoughts and prayers. I hope all continues to get sorted and figured out. Those are precious pictures; what love between two sisters.

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jen

oh bless, what a precious poppet she is and you gotta love that sisterly love! I (finally) had my bubba and the little man is continually covered in slobbery kisses from his three adoring older sisters..its too cute :o) Harper has the most beautiful eyes! xx

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Miriam

Oh wow that’s so great! I didn’t realize this was your first boy! So great. How did the labor go??! How are you feeling/recovering?

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jen

Yes we have evened things out a little in my house, even the cat is female so daddy was feeling a little left out, especially when we threatened to buy him some pink pyjamas!!! Hehe! So Sébastien was born August 19th, and naturally and in the bath like you, yay! He was also late in the end but the birth was pretty dam good and he is happy and healthy and he sleeps okay so my sanity is mostly intact! Mind you…i am now going through your aforementioned hair/clothing dilema’s…yuck….i STILL feel like a pregasaurus, and if one more person asks when my bub is due i might scream, hehe! Mostly, i just feel blessed that he is here, i know you can relate 🙂 xx

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Lauren

What good news! I’m glad to hear that things are looking up. I love the pictures – especially all that luscious hair!

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Angie

Hey – found your blog from DIY maternity as I was looking for some cute maternity tutorials. Was I ever shocked to see you writing about Pierre Robin — which my 4 year old has! And as I looked at pictures of your Harper, she looks just like my Ella did as a baby (with the dark hair and NG tube and tape everywhere!) I remember those days and they were hard– BUT THEY DO GET BETTER. I’d recommend you get a couple more opinions — the ENT and the plastic surgeons should NOT be disagreeing on this; this is all their specialty! I’d find someone else — drive if you have to (I don’t know where you live, havent read beyond this first post, so maybe you have!). We have gone for multiple opinions on all the things related to P.R.S, but they’ve all agreed that she DOES have it. We did a palate repair at 1, but did not do the jaw surgery — it scared me too much. Plus, we had several doctors tell us not to do that (some of those other opinions) and we went for that.

Nevertheless, she is beautiful and you’ll figure it all out. If you want to chat, ask questions, etc, email me. I never felt like I had anyone to talk to! Good luck to you and I hope you find the answers you are looking for!

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Martha

i cannot believe you captured those INCREDIBLE pictures. i am pretty much weeping over here. thanks a lot.

i’m SO glad to hear that you are getting some answers.

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