Any Given Sunday

Of course it has been another 2 months since I've checked in! Elenor is GROWING, by herself no less. Which is astounding. Sometimes I think back on this little person who was so tiny that she felt like a breakable doll.

May 30th, 2013 - 2 years, 7 months, 2 weeks:

24lbs 2 oz (3%ile)
31" tall (less than 3%ile)
22" circumference head (greater than 97%ile)

On any given day she really looks and acts like a typical 2.5 year old and that is a relief. But then there is a day that her sugars are everywhere and I can't seem to get them regulated, we struggle with learning basic skills like potty training because of the reduced sensation she has in her pelvis because of the occulta. The worse days are when she accidentally falls and hits her head. The fear and worry that goes through me, it just moves your world. And it really puts into me what will happen someday when she goes to school. Hydrocephalus can be really dangerous. I just want her to be safe and happy.

Sugar Rush

Elenor does one thing really well - she eats. I know there are RSS kids that struggle with this but Elenor does not. She will eat all day.every day.until she EXPLODES. She loves food.

Proof:

Even just the idea of food, plushy food, gets her little 2 year old heart pumping. That face is just pure delight. She couldn't have been more excited to find stuffed cupcakes and doughnuts!

The worst part about having a little one with her genetic condition who loves to eat? She can't. Elenor has hypothyroidism. And by no choice it looks like in the very least we have hypoglycemia. RSS kids have a higher risk of diabetes too. So we have to pay attention to what she eats and how much.

Elenor is growing into a beautiful little girl and is quickly abandoning her babyish look. I could not be more proud of my little crazy!

A Change in the Game?

When we met with our new geneticist last week I wasn't really sure what to expect. You never really know what you're getting when you meet a doctor, they are all so different. He was wonderful! He treated Elenor so well, like a grandfather would. Playing with her and really getting her to cooperate. He said that she has progressive macrocephaly (big head, keeps getting bigger). This has caused a little pressure behind her eyes again. He also detected a heart murmur. We had another bone age scan done and are awaiting IV team for labs. She will need an EKG very soon too. They had done some more research on her condition. He also told us that they have confirmed that as far as they know she is only 1 of 4 with MUPD2 in the whole world! Pretty neat stuff. They previously thought of 9 but narrowed it down due the specific way I guess her abnormality reacts. He told me that they have an entire folder on her in the research lab at the hospital. This is a HUGE hospital. I think research hospitals are so neat in how they really get down to the bare bones of what is going on. When we had went to the children's we had received stellar treatment but to be honest I was extremely underwhelmed by their thoughts. They had tried to tell us that it was a feeding issue as to why she wasn't growing. Jerks. I don't think it's something I'll ever get over. She is really doing well. Especially mental development! She knows some letters, a few colours, and even likes to count to 4. She knows her age too. I love this kid! <3