01.17.13

Before anything, I have to give a big, no huge! thank you to everyone at Washington Elementary for the generous and thoughtful send off on Tuesday afternoon. How grateful I am to be blessed with such caring and big-hearted peers. Will and I are overwhelmed by the support we've been shown. 

In my best attempt to keep everyone updated, a blog seems the most effective and efficient way- let's hope that I can keep up:)

We arrived at Mayo late on Tuesday for Hannah's early appointment on Wednesday morning. We reported to St. Mary's for a chest CT. Hannah did have to be sedated for this in order to avoid wiggling and get a good picture of her lungs. 

Thursday was draining. We were stacked with appointments, the telling one being genetics. Hannah has a 5p deletion consistent with a diagnosis of cri-du-chat syndrome and a 10q duplication that contains approximately 45 known genes. The cri-du-chat syndrome can manifest with cognitive delays, less muscle tone and a smaller head (though her head is growing proportionally with her body and so far is on track for her growth chart line).  Hannah's swallowing and aspiration problems could be attributed to this. The duplication of chromosomes is a wild card, as there is less known about the effects of this chromosome set having an extra piece. Will and I will both be tested for the same disorders. It could be anomaly in Hannah or something that we passed down. One additional concern is organ function- especially the kidneys, so there is an ultrasound scheduled for Tuesday, as well as an Echo of her heart. 

The results of Hannah's CT scan of her lungs yesterday showed very mild bronchiectasis in one lung that could eventually cause serious and permanent damage. Monday through Monday night Hannah will have a PH probe (very similar to an NG tube) placed down her nose that will register any refluxing into her lungs.

The good news? Hannah was so happy to be out of our arms and her carseat, that the moment she was able to stretch out at the hotel, she rewarded us with great big belly laughs- her first- and more beautiful laughs have never been heard!