Once Upon A Prayer

Wednesday, January 9, 2013

Mackenzie's Endo Appointment

A few months ago, Jacques and I made the decision, at the urging of a geneticist, to get genetic testing done on Mackenzie.  We were told by China that Mackenzie had several congenital heart defects along with another sensitive need that I will leave out for her privacy.  At our consultation with the geneticist, it was unclear to him what was the result of institutional issues such as severe neglect and starvation, and what could potentially be the result of a genetic disorder.  The test cost $3,000 and our health insurance would only cover 80% of the fee.  We felt that in order to best help Mackenzie succeed in life, the expense was well worth it.  After a four week wait, the results were in!  Much to the geneticist's surprise, Mackenzie was diagnosed with Turner's Syndrome.

Turner syndrome (TS) is a chromosomal condition that describes girls and women with common features that are caused by complete or partial absence of the second sex chromosome.  TS occurs in approximately 1 of every 2,500 female births and in as many as 10% of all miscarriages. 

We have a checklist, and are taking Mackenzie to a lot of specialists to determine which aspects of the TS affect her.  Today, Jacques took Mighty Mack to the Endocrinolgist.  The doctor recommended that we start Mackenzie on growth hormones as soon as possible.  He predicts that Mackenzie would only reach a maximum of 4'4" without growth hormones.  Our goal will be to get her to at least 4'10"...which is probably unlikely, but a good goal nonetheless.  Once Lily and I return home from the hospital, a nurse will come to our house and teach Jacques and I how to administer a shot everyday to Mackenzie's tushie or thigh.  Mighty Mack will need these daily shots until she reaches the age of 13 or so.  At the age of 13, Mackenzie will transition to an estrogen injection that she will need in order to force her body into puberty. 

Even though this diagnosis came 
as a complete unexpected shock to us, 
check out this face.  It screams "I AM SO WORTH IT!"

"For God has not given us a spirit of fear, 
but of power and of love and of a sound mind."
II Timothy 1:7


  1. I am so happy you are getting answers! We are praying for your beautiful daughters!!! How is Lily today???

  2. She has the most infectious smile!! You can't help but smile when looking at her! Mackenzie is absolutely worth it!!

  3. Hi !
    This is Sarah Risley back from China with our precious boys. Thank you for all the tips. The panda phone worked perfectly.
    God has asked much of you all in this season. I pray that you may know the richness of his grace and his tender mercies.
    One of our daughters from Kazakhstan gets growth hormone shots every day. It's not a big deal at all so don't stress over that.
    Sarah Risley