Friday, December 2, 2011

What a day!

It was quite the day today.  It started off innocently enough, the three big kids left for school and I planned to get some cleaning, laundry and Christmas baking done since I just had the two littles.  I was feeling a bit rough since both babies and I had colds, but I figured it was because it was morning so I brewed the coffee and got down to business.

Then the babies fell apart, at like 8:30 am.  They were two mini meltdowns, both sobbing all the time, Teagan screamed at me incessantly about nothing, they wanted to be held, put down, carried, sung to, read to, backs rubbed, didn't want to be touched. it.was.awful.

Somehow we magically made it through lunch, during which poor Finny fell asleep in his highchair.  I put them both to bed, started to make my lunch and put a batch of cookies in the oven to bake and was looking forward to sitting on the couch for an hour and just being still.  Then the phone rang, and it was the genetics counselor from Children's Hospital with Finn's tests results.

We found out that he has the dominant form of cutis laxa, which surprised us a bit since I don't have any symptoms except my heart and none of the other kids have the symptoms.  We were relieved because this form tends to be more mild, but it is also incredibly, incredibly rare as in only a few families are known to have it worldwide. So, now we need to get everyone else tested to see if we just have the deletion that causes the heart condition or if somehow things changed for Finn and that is why he has more organs involved and other issues.  This is going to be quite the ride, we already have the ball rolling on physical therapy, but now we need to be aware of other health concerns.  Only time will tell us how Finn will be impacted, but I hope that the information they have is correct and that the form Finn has is less damaging.

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