Avery Starr.

Today is Avery's six month birthday. 
Today is also the day Avery's life changes, forever.
Today we heard news that made us celebrate and cry at the same time. 
 
Avery met with a geneticist who had reviewed her x-rays, looked over all of her history and then swung by to see her.  He told me that just by looking at her x-rays he didn’t think she had OI because he didn’t see any weakening in the outside thickness of her bones.  However, he wanted to look at her and interact with her before ruling it out.  After picking her up he said “Hmm…” and then asked if he could move her closer to the window.  He picked her up, moved her and said “Hmm…” and asked Dr J to hold her so he could get a better look.  She was fussing so eventually I had to hold her.  He said “They’re blue.  Do you see that, Dr J?”  She walked over and said “Oh, I guess so.  I never saw that before.” At that time he asked to have two unbiased witnesses come in and examine her.  Two people came in and were asked to examine the color of the whites of Avery’s eyes.  Both had the same response.  They are blue, kind of metallic, grey. 

With that, the geneticist said “15 or so years ago they didn’t have a test to diagnose Osteogenesis Imperfecta.  15 years ago we just had to look at the whole picture and decide, clinically, if we believed the patient fit the bill.  15 years ago I would have looked at your daughter and told you that she has Osteogenesis Imperfecta – most likely type I.  However, we have a blood test now.  I would like her to have it done.  It takes 2-5 weeks to get the results as it has to be sent to one of only a few labs that can do the testing.” 

I immediately bombarded him with a 100 questions, but none of them matter right now.  What matters is that we have a diagnosis.  It’s not a diagnosis based on confirmed blood results, however, this specific doctor has been doing genetic studies for over 40 years and has seen cases of OI, diagnosed cases of OI and seen varying severities of it.  As of right now we have a clinical diagnosis of Osteogenesis Imperfecta. 

This changes everything and changes nothing.  Until we have a confirmed clinical diagnosis (written by the geneticist, this was an unbilled consult) nothing changes.  However, we spoke with our social worker and told her the results of his consultation and if we can get something in writing before Avery is discharged we may be able to take her home “free and clear”. 

As of right now, our Social Worker is going to talk with the Foster care system in our city and see if they will agree to having my sister reside with us and be our ‘supervision’ during the next few weeks/months.  Due to Avery’s medical condition, putting her in a Foster home could be detrimental to her health. 

Avery’s NG tube still seems to be an issue for her.  Her oral aversion has not decreased at all.  She will most likely be discharged (HOME!!!) this week and go to Fargo next week and have a g-tube placed. 

My heart is so excited and heavy and happy and sad.  This diagnosis changes her life.  It changes our lives.  It changes everything. 

The worst part of the news is that the test is incredibly expensive - $2,000 alone just for the OI portion, there are 6 different sub-portions they are running, each around $300.  The hospital we are in doesn’t do the testing.  The hospital they send the test to doesn’t do the testing.  The hospital THEY send the test to does the testing.  However, the billing is equally as complicated.  Our hospital is trying to run the test through without our insurance information on it, asking Tulane to bill our hospital and allow our hospital to bill us.  If Tulane doesn’t like this then they deny the testing and ask for payment up front.  If our insurance won’t cover it – which we’ve been told they likely won’t – we will have to pay out of pocket for the testing.  It’s a crazy large expense but if we have to take out a loan and pay for it, we will because Avery is coming HOME!

 

I'd love for you all to meet - Avery Starr!