Wednesday, August 3, 2011

222 Clinic

Today was our first appointment with Dr. Kobrynski at the 22q Clinic at Emory, although Dr. K has seen Riley several times in the hospital.  We got there early, as requested, then waited around for a while.  Overall, it looks like Riley is doing really well.  The shaking that Josh has had some concerns about is a normal baby thing.  Everyone is so pleased with Riley's speech development, the fact that she is making clear "d" and "m" sounds and especially that she is making raspberries (you go girl!).  I still pray that Riley is on the more mile end of the syndrome and from all the specialist that we've seen, it appears that my prayers may be being answered.  Dr. K will be testing Riley's calcium levels and phosphorous levels to see if they are still normal, which she is guessing it will be.  Babies that have sever calcium problems never seem to get above an 8, even with the medication, and at the last testing, Riley was at a 9.  If things look okay on that, then Dr. K will start weaning Riley from her 3 x a day dose to 2x, then 1x, then possibly down to none.  Of course all of this will need to be retested during the course of the weaning to make sure that there are no problems.  We need to look for consistent shaking .... likened to a person on too much caffeine, and constant irritability, which would be abnormal for out brave little girl.  She is so beyond amazing and I was really pleased with her appointment.

We'll go back at 18 months for a follow up and at that appointment we will be given more information on studies that they would like her to participate in (and Josh & I on one test too).  If we can help any kind of study, or other family then we are more than happy to assist.

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