Friday, August 8, 2014

What is Chromosome Analysis, High Resolution?

Days after our first Growth Hormone follow-up appt, we headed out at 7am this Friday morning for some blood work at Hershey. On Monday, our Dupont Endo ordered an 8am Cortisol test. We can't figure out why Mimi is obsessed with eating all and what she does. The Endo thinks maybe it's the salt she craves. we are ruling out adrenal/cortisol problems.

Also on the list was a CBC, PLT, and DIFF, a Comprehensive Metabolic Panel, and finally a test that will say if Mimi has Turner Syndrome. (apparently this is what should be considered whenever a girl is short stature.) Mimi's Endo doesn't think she looks like a Turner girl, but we want to rule it out. I am interested in what this High Resolution Chromosome Analysis test shows. If she does not have Turner syndrome, will something else show up? Having denied an amnio test for Down Syndrome when I pregnant with Mimi, it is interesting to realize that this looks similar to what an amnio might have shown back then. So four years later, maybe we'll learn something.  Here is a link to the information:

Chromosome Analysis, High Resolution - Quest Diagnostics Nichols Institute Education Center

We are so happy for Mimi. She grew 2.5 inches so far on Nutropin. She began her shots on April 19.
She is still very petite, but looks so tall to me. We are excited for what the future holds for her. She is already stronger with more muscle tone. She is also sleeping much better. It's very exciting to see her growing, as she had stopped growing (!) in November 2013, shortly after she turned three.
This photo is from her first appt at Dupont on March 31, 2014.
 And on August 4, 2014.

1 comment:

Maggie French said...

Update on Mimi: Mimi has normal female chromosomes 46 XX, meaning no Turner Syndrome.
Could that be the last genetic test she needs? I think maybe so!
So this also confirms her formal diagnosis as Growth Hormone Deficiency- with no syndrome.