Umm…not very helpful

This one will be short, because I have 2 extra kids spending the night tonight, and I am about ready to lay down and just veg out for a while.

So – the geneticist. Not a woman with the best bedside manner. When she walked out to the waiting room to get us, she snarkily asked: how many of these children will you be bringing into the room? Umm, all three of mine? (O and Y too sick to go to school/the childminders). When we got into the exam room, O asked if he could have an examination glove to play with, and she just looked at him. I said, “I guess that’s a no then”. Then she started in with the questions – she draws this family tree, puts O and Y on it, and then adds Emmett. Then she asks me if Mike and I are biologically related to each other. Now I’m not sure that she asked that because Y was feeling so bad that he looked like a product of an incestuous relationship, or whether she just forgot that Emmett is adopted. So I reminded her that Emmett is adopted, and told her that no, Mike and I are not related. She really didn’t have any other questions – I told her about all the problems he has, and that was it.

At the end, she says that what she recommends is a micro-chromosomal assay, which I gather is a more in-depth look at all of his chromosomes to look for deletions, etc. Which is great, but the results take about 3-4 months to get back. My question is this – why have we been waiting 3 months for this appointment, when she might have guessed from the clinical signs noted in his medical record that she might need this test. Why not run it 2 or 3 months ago – they are even going to use the same blood that they used for the DiGeorge’s testing, so they’ve had that blood in their possession since we got home from Vietnam. Argghhh!!! It just chaps my hide that now we’ll have to wait until January or February to get any results – although I am super glad I pushed to have this appointment moved up – I’d be even more angry if we had to wait until mid-December for her to tell us she was going to run a test on blood her department has had since early September.

Anyway – deep breath. I did ask her if all of his clinical signs – which include hypospadias, bifurcated scrotum, tetrology of fallot, wide-set eyes, asymetrical ears, very large open fontanel, intestional malrotation, and global developmental delays – made her think of any syndrome in particular. No, she says, but she’ll do some research.

So there you go.

On the brighter side – he’s taken 12 ounces today so far! Wa-hoo! One more feeding left today.

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13 Comments

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13 responses to “Umm…not very helpful

  1. I am sorry to say that seems to be the consensus on most geneticists on this side of the ocean too. I would be very frustrated she didn’t just look at the chart and run the bloodwork too–and wtfrap, why are you working with kids if you won’t even give one a glove to play with? I hope that you get some information that can help your son!

    We are incredibly lucky here and have a WONDERFUL geneticist. Seriously–when you eventually get back to the states it would be worth traveling to Jax to meet with him–he is amazing, has a wonderful bedside manner, loves kids, is positive and informative and knowledgeable and encouraging. The Ds community here treasures him!

  2. What a terrible doc! The glove thing is crazy. On the bright — really bright! — side, I’m so glad he’s taking the formula more willingly! Good boy, kiddo.

  3. how annoying!!! ugh.

    12 ounces, yea…emmettt!! keep it up!!!

  4. Christina

    I got behind and just read all the way back to the inverted commas cardiologist. And from that perspective, WOW are you doing AWESOME!! Seriously – 12 OUNCES?! WHOO HOO!! The cardiologist said he’d be happy with just 10 ounces and you are up to 12?! Go Emmett! 🙂

    Sorry the doctor today was so lame. But I think it’s great you know the right kinds of questions to ask to make her go do research. 🙂

    I really do want to encourage you, in all aspects of this journey – and I don’t want to discount your attachment issues either, because that’s one part I can relate to. I just didn’t anticipate that maybe I’d have a harder time attaching to my son than he would have with me! And in your circumstances, with so little sleep and so many challenges, well, I can imagine that it’s just that much harder. But God chose YOU to be Emmett’s mommy and God doesn’t make mistakes! So I will continue praying for Emmett’s healing and also I will pray for you, for God’s peace and for an awareness of those moments where you find yourself falling in love with your son – two years home, I still have moments like that with Zeeb.

    Sorry for writing a novel in your comments. Take care of you!!

  5. Beth

    Yeah for Emmett taking more formula. That’s wonderful

    As far as the geneticist goes….how frustrating!! Isn’t that how it usually is? You wait and wait, just so that you have to wait some more. Grrr….

    I have to agree with Shannon on the geneticists in Jax…not that I have seen them, but I have a close friend who sees someone there, and they have had a GREAT experience. Their son had the whole failure to thrive due to not eating….had some bowel troubles too. They just went through all the genetic testing and are seeing all types of specialists there.

  6. I would have been tempted to say something like, “Yes, Mike is also my brother, but Emmett is adopted so that should have no bearing on anything.”

    Have you read Michelle’s Dr. post on Sam Makes Seven today? Good stuff. I think you’ll be able to relate.

    Yay for 12 ounces!!!! He is really making progress, and you have gotten him there! Pat yourself on the back. Go ahead, break your arm doing it! I mean, not really. But you know that whole expression, “Don’t break your arm patting yourself on the back,” right? Or is that just something my parents always said?

  7. Jeannie

    Go, Emmett, go! Drink that bottle, baby boy!

  8. Oh this makes me SO angry for you!! What the heck?! It’s so scary to me that genetics is a fellowship from pediatrics. This woman should’ve gotten a PhD if she didn’t care to deal with people or their kids (who are her patients)! UGH. I’m so sorry you had to experience that.
    In the meantime, CHUG EMMETT, CHUG!

  9. Jennifer

    Well.

    I’m glad we waited anxiously for MONTHS for that. I figured you’d go in, they’d look at him (did she even look at him?) and say ‘Oh, you know, it’s probably one of these two things.’ Or maybe three things. Or even four. But NOTHING? No clue? I dunno? ARGH!

    If all they were going to do is pull blood from months ago to run more tests, is there some reason they couldn’t have done that when the De George test came back negative? Oh, wait. That would have made too much sense. Are you sure these people aren’t really OUR government employees? LOL

    Hang in there! I’m glad to hear he took more yesterday. Maybe he’s finally getting hungry for a bit more without the tube.

  10. Nora

    Hang in there guys! Maybe Emmett will get to be featured in “mystery diagnosis” or “Vital Signs” (Discover Mag) when he gets that really great Doc around the corner…
    Congrats with the bottle! I will give you a call soon, our drama has gotten even more interesting!

  11. I’m glad to hear he is picking up his drinking. Let’s just hope the doc is better with her facts than she is with people. Hang in there.

  12. Missy Poole

    Hey Lauren – praying for you daily. PLEASE PLEASE PLEASE, let me know if there is anything I can do. I mean it – I meant it when I saw you. It must be treacherous, especially when you have 2 other kids to raise during all of this. Perhaps you will have more luck when you head back to the states. But, in the meantime, if I can give you a hand, call me. 01842 862 802. I know the boys don’t remember me, but I am sure if we got Livvy together with them, they could have some fun. Just let me know…

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