Genetics & ENT Appt updates

Well today we made the trip to GR once again to meet the genetics team and an ENT specialist.  The Genetics appt was what I expected - we talked about her size and where she is at right now as far as milestones.  You know they point out things that could mean something.  All along I have been a Google Freak and most of you know so i was pretty confident they would not tell me anything I did not already look up and I was right :)  When she was about 6 months I found a site that talked about RSS or Russell Silver Syndrome.  She has lots of the characteristics of the syndrome but there is no for sure test that says YES that is what it is.  Its a tricky one.  It has mostly to do with short stature and some can even go as far as saying its a type of dwarfism.  Basically she would not produce enough of the growth hormone that the rest of us all made while growing up.  We have to go to a endrineologist to determine anything with the growth hormone, so that means more bloodwork! The genetic doctor said that she does have lots of the features - but the growing thing could be its own entitity.  So they sent us to get bloodwork today for chromosomal testing.  This will look at all the chromosomes and see if there are any pieces missing in the genetic makeup.  Only after this is done - with the results will they move forward on any other testing.  It is possible Steve and I would need to be tested , if they find anything that might have happened with her genes.  So we left there really with no known answers - just a few more doors to open.  After leaving there we went to get her blood drawn and the poor girl.....she knows when its going to happen.  She started crying while they were feeling her arms.  Literally inconsolable crying!!!!  The actual draw took less than a minute :) 

We finally met with ENT after lunch and based on her hearing test she had two weeks ago - this doctor believes she has both conductive and nerve damage hearing loss.  Since we don't know for sure how much the fluid in her ears is causing - it needs to be drained and she must be retested with the same Baer diagnostic test.  They can do this in the same procedure - which is a bonus.  they are currently trying to get a hold of her GI surgeon to find out when that surgery will be.  So they can hopefully coordinate it all together.  If the malrotation surgery will be out a ways they are not going to wait on the tubes.  So maybe by the end of this week we will have an idea of when that will all take place.  I was not super impressed by the ENT doc only because I want to believe that maybe most of her hearing is from the fluid.  He did not really say that - but that she will probably need to fitted for hearing aides.  I was prepared to hear that though because if there is any chance she can hear at all - I will do whatever!!!  would I like her to hear without aides, YES!  but if they make a world of difference then hell yes - and who cares :)  Maybe I was not impressed because he did not tell me what I wanted to hear, but the facts as they stand today.  So I guess nothing personal against him, just me being hopeful. 

So that is is for now - Here is the breakdown at the moment.

Chromosomal blood testing - awaiting results
Endocrineology - awaiting appt
Malrotation surgery - awaiting date
Tubes - hearing test - awaiting date
Follow up to developmental - 4 weeks post op from malrotation surgery

Boy Mallorie has such a social schedule already and she is only 8 months :)  I will update soon  - again thanks for all the support and prayers - Steve and I have the best friends and family anyone could ask for!

Steph