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Update from B's Geneticist Visit!


Forum: July, August & September 2012 Playroom

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  • 1 Post By RunningMommyTo5
  • 1 Post By writerchick324

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  #1  
February 28th, 2013, 06:32 AM
RunningMommyTo5's Avatar Marathoning Mom to 4!
Join Date: Aug 2011
Location: Georgia
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We absolutely loved our geneticist at UAB. She was amazing and the entire staff that worked at UAB Human Genetics was friendly and awesome! It was a great experience. There was some good news! She said that Bailey looks wonderful. She's alert and very good natured, a happy baby who, yes, is very tiny, but looks healthy and not sickly. She said that in spite of her tininess, she does have some fatty stores in her cheeks, her bottom, and her thighs, which is a good sign, although she is very tiny through her trunk and has next to zero fat there. She is also proportional, which is great news. The dr was a bit concerned about her continued Failure to Thrive, though, as she has been continually falling off her curve since her 2 month appointment. She went from the 60th-ish percentile at birth, to the 65-70th percentile at 2months, then a drop off to the 3rd percentile at 3months, then back up to the 10th percentile at 4 and 5 months, and now back down to the 4th percentile at 6 months, with her weight stalling over the past few weeks. She's concerned that she may be even lower (off the curve) at her 6 month check-up next week.

So, she ordered several tests, more blood work and a urinalysis, for which we had to take her to UAB Children's Hospital. Again, it was a great place! Everyone there was amazingly friendly. The lab tech was able to get a vein the first time, and here's the amazing part, Bailey didn't even cry!!!!! It's amazing what a difference having a tech who's used to drawing from baby's veins makes.

Now, we wait to see what these test show. If there are even more abnormalities, then the geneticist will order some chromosomal testing that we can have done here and come back to her when she has the results. However, if the tests are normal, then she'll go to a couple of specialist to try to isolate any non-genetic issues that may be causing her to not gain. She's scheduled for the pediatric GI mid-March and she'll also see a ped. endocrinologist if the tests are normal. They will be able to isolate any stomach/GI issues that may be malabsorption related or pancreatic malfunction, etc.

However, if the tests are normal and she continues to fall off her current growth curve, she will order chromosomal testing at that point as well to see if it is one of the rarer disorders causing her FTT.

So, basically we're at a point of waiting on the tests results, and then watching her growth over the next few weeks to a month, as well as seeing what the specialist think. The great news is the geneticist said she thinks it's a good possibility that Bailey could be perfectly healthy, but just a tiny little girl. However, she can't ignore the initial abnormalities in her bloodwork/urinalysis, or the fact that she is continuing with her FTT. It is much more likely for her to be absolutely healthy or for her to have some pancreatic issues or GI issues that medication can fix vs is being one the more serious rare inborn metabolic disorders. I'll keep you updated as I know more!!!

Thank you for all the prayers for her. They really mean so much to me! I really feel the love and the peace. God is always good. No matter the outcome, He is good!
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  #2  
February 28th, 2013, 07:10 AM
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I am so glad that you updated! I hope that these test come back good, and that she starts to gain more weight! I will continue to keep you guys in my thoughts!
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  #3  
February 28th, 2013, 08:14 AM
Blessed Mommy Of 5's Avatar Mega Super Mommy
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Thank you for the update! I am glad to hear you have awesome doctors now!! So wonderful that they were able to draw blood from Bailey on the first try! I hope the tests have great results! I will keep praying for baby Bailey
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  #4  
February 28th, 2013, 09:37 AM
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Katie, I'm so glad to hear of your positive update! We've been praying for Bailey and your entire fmly as you search for answers. And yes, I will agree with you - GOD is good all of the time <3
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  #5  
February 28th, 2013, 09:53 AM
curlygirl77's Avatar Mega Super Mommy
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So happy to hear this! Hopefully you get good news soon
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  #6  
March 1st, 2013, 12:14 AM
jojo2bee's Avatar Mega Super Mommy
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Thanks for the update Katie! I'm so happy to hea this genetist is great and very nice! you guys deserve it! I hope those test results come back fast and with good news for Bailey girl!

And what a strong baby girl she is! no crying! yay!
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  #7  
March 1st, 2013, 10:49 AM
writerchick324's Avatar Mega Super Mommy
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I have been thinking about you guys!

I am glad that she didn't see anything serious and that you were praised for having a healthy baby.

I do want to say that I have gone through weird health problems that docs can't diagnose. I know how frustrating it is to feel like you are going somewhere to get an answer, only to be told, "if not this, then we will do that, then wait for that, then try this and if not, we will do that...". I used to wish I could just go to a doc and say, "Here are my symptoms" and he would say, "That's because you have ____".

What you wrote sounds promising, but I also felt disappointed that you were told after waiting and being so excited for the appointment that you are now waiting on test results again, and if inconclusive, you would see another specialist or have more tests done. I was really hoping for a clear, easy to treat diagnosis! (not that she is sick or anything).

Hope that doesn't sound bad, but just know if you ever feel overwhelmed or frustrated I know the feeling (sorta).
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  #8  
March 1st, 2013, 11:20 AM
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I am so glad you are on the road to some answers. Thank goodness things sound promising. Ill keep you guys in my prayers that things are simply treatable with some meds at the most.
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