Genetics Appointment came and went...

I don't really know what to tell in regards to this appointment.  We walked in hoping, praying the high heavens really, that Dr. Giampietro would shine a magic light on Rylee and open a whole new world for her.  Unfortunately, that definitely wasn't the case.  After the mix up with Iowa City Genetics (they said they never tested Rylee, didn't have any records of it, turned out that after 2 hours on the phone with them, all those records were under "Baby Girl Klauer"...duh!), we got tons of records and diagrams that we hadn't seen before.  We even got the results for Kris, Troy and I, which is great!  The 3 of us have "perfect" genetic makeup (no one is absolutely perfect, everyone's is different but ours don't have to much or too little genetic material)!  We talked briefly about the nasal bones that were seen in the ultrasounds with Weston.  The presence or lack there of can indicate Down's Syndrome and we would know upon first glance of him, if he had Down's.  Dr. G thinks we're definitely in the clear there especially since there are no facial deformities and he's acting just like he should for his gestational age. 

What does Chromosome 6 deletion q25.1-25.2 mean for Rylee...

There is not an exact case of her deletion in the literature.  Therefore, we don't know much more than before.  There is cases of deletions that house her same deletion just a tad larger.  And those are what we have to work with.  Hydrocephalus, protein and metabolism problems,developmental delays, hormonal estrogen problems, facial deformities, deformities with the anus...are a few problems that are listed among that literature.  Rylee has Hydrocephalus, facial deformities, developmental delays and could very well have a protein problem and definitely has metabolism problems.  Estrogen problems, if there are some, will most like become a concern more around puberty time, I assume.

Rylee's future...

Rylee's future is not grim, at this point in time.  She has more problems, such as some with her heart and kidneys, could be lungs, largely decreased immune system, than those that I listed above.  She is meeting all her milestones just at a much slower rate than a normal 19 month old child.  Dr. G asked if we would like to have her "case" published in the literature.  We agreed, hoping that in the future some other child comes forward with the exact same deletion and we can use them as a reference or that we can help another family by not having to go through all the uncertainties like we have.  Dr. G took pictures of her, I know that sounds weird, but pictures can help.  We are going to go back for yearly visits to keep the literally updated.  Dr. G said he would let us know when it's published and if a med student uses her "case" as a case study.  All Dr. G could say was that not much is know about Chromosome 6 making it largely rare to have any kind of abnormality.  He also said that this was just a genetic accident.  It was nothing that I did or didn't do and couldn't be replicated by me and Kris again (which Weston has 100% completed our family so no worries there!).   Also banking Weston cord blood would have done nothing for Rylee.  It hasn't been proven that cord blood from a sibling can heal developmental delays or Hydrocephalus, only has in the individual who's cord blood was banked.  Stem Cell research is an extremely controversial study, some believe in it some don't.  I guess I believe that if could've saved the life of one my children or someone else, why not?  We didn't bank Weston's cord blood because of the chromosome uncertainties.  That may bite us in the rear later on but at the time it was the right decision and I am standing by it.