Dear Anonymous,

AnonymousNovember 13, 2012 11:12 PM

Most babies have blue/gray in the whites of their eyes. Sorry to say, that is not a clinical diagnosis. One cannot simply look at a symptom most babies commonly have and diagnose it as a genetic disorder. I pray your daughter heals from this nightmare.

Dear Anonymous,

 

While I certainly appreciate your ability to dispute a geneticist's professional opinion, I feel the need to address your doubts of his diagnosis. 

 

First, while blue sclera alone is a trait most babies exhibit, broken bones with no trauma is not. 

Secondly, the Doctor had reviewed Avery's entire medical history, viewed her x-rays and reviewed my medical history.  Which, by the way, you have not.

Third, the Doctor was able to discuss with myself and others present the reason the clinical diagnosis was made.  Something that doesn't need to be shared with anyone unless we choose to share it.

Fourth, while no one single sign or symptom would allow any Doctor to diagnosis anything, they are trained to look at the bigger picture.  To not make judgments based on opinions or character and to only examine the facts.

And finally, my daughter will not remember this nightmare.  Thank God.  However, we will.  Please pray for Avery to stay strong, have healthy bones and make the most of her life with OI.

 

Feel free to leave your name - I'm sure it's not "anonymous."

 

 

 

In other news, Avery lost weight again last night - despite her NG tube and 24 calorie Elecare.  I haven't talked to her Doctor yet this morning. 

 

She also JUST got a new tube put in because (again) she pulled it out. 

 

Yesterday we had to fill out paperwork for the geneticist that detailed our family history, any disorders or diseases especially anything related to bones.  We never knew this prior to Avery's diagnosis, but apparently my husband's Grandmother had severe osteoporosis.  She broke a ton of bones in her body and even had to have metal rods implanted in her arms because of it.  She had awful scoliosis.  She lived on morphine because the pain was so severe.  But the one thing that really stood out to me the most is that, like Avery, she sweat constantly.  Avery sweats, no matter what.  It can be 55 degrees in our hospital room, she's sweating.  Her temperature is low-normal and she's sweating.  She sweats ALL the time.  This is a common sign of Osteogenesis Imperfecta, as well. 

 

I want to personally thank each and every person who thought of us, prayed for us and cried with us.  It really means a lot to our family.  The fight isn't over yet - and I don't think I'll even breathe a sigh of relief until we get the "Case Closed" letter from Social Services.