As far as the appointment with the geneticist, I have been putting off posting about that because I am not sure how to put everything into words, so I am going to do my best to attempt to sum it all up quickly. Charlotte was tested for CDG (Congenital Disorder of Glycosylatia) in the beginning of this whole process, and tested negative. However, there are many different forms of CDG, and the test can only test for the more common types. Therefore, the Dr. is telling us she may have one of the rare forms of CDG.... There is not a test for the rare forms yet, but the Mayo Clinic is currently working on one. When it is available, we will test her for it. In the mean time, the Dr. from Harvard wants to add Charlotte to his research study, so we will be sending the rest of her records and blood samples from the 3 of us to him, and we have also contacted 2 other specialists in CDG, one in California, and the other in Maryland. We are headed somewhere with this information, not sure if we will get an answer, but I am confident we are doing everything we can. For all of you wondering what CDG means for Charlotte, we have no idea, but there is no cure. It could be explaining her failure to put on weight and poor appetite, as well as a few her other symptoms (brain malformation and crossed eyes).
So my week was definitely spent coordinating all that went along with that, working, celebrating Chris' 27th Birthday, keeping up with Charlotte (finally I can say that!!), going to the farm for deer season hunting, attending a funeral and attending a wedding (both in the same day). I was exhausted when I got home today, but feeling bad about not filling everyone in on what has been going on. Here are some pictures from the past few weeks.
Bath time - us trying to show off how long her hair is getting!
A photo op with mom in her new camo-jacket that she had to have before going to the farm for deer season last weekend.
And of course a picture with her dad too, what a gorgeous fall day.
Finally, to the mischief. Charlotte was kneeling at the windowsill next to that plant, and I was watching her closely, and then, she reached for the plant and proceeded to knock it over. Her first BIG mess (aside from blowing out a diaper or two).
That same day, she was enjoying emptying her book shelf. I couldn't get a picture of her standing up pulling them down, because I was afraid she would fall if I left the room to get the camera, but it was so funny and I love seeing the curiosity in her come alive.
A picture with Daddy on his Birthday. Charlotte got him the book Z is for Zamboni. For any hockey fan Dads, I highly recommend it.
And today at the farm, posing with Aunt Kim in the chair just hangin' out at the farm. "I love you this much"
Candles - Each and everyone of us, trying to stand up tall, be the brightest we can be, not to weep or melt down in front of others, to be strong and beautiful. Trying not to burn out.
Wishes - Our dreams, as crazy as they are sometimes, or simple. The things in our life that we hope for with all our might, that we pray for fervently, that we cling to, that give us purpose to keep going, that make us who we are and who we will become.
Cracked Cheesecake - Life. So wonderful, at times taken for granted and at times cherished, but always unpredictable. We never know what life will bring before us good or bad, or how we will succeed or recover from those events. But, despite the cracks that get us down, we must get back up, even if we have been melted and even if we have burnt out. If we listen to God we can still maneuver either around the cracks, or maybe not fall so far down into them and be better equipped to pull ourselves out.