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

How...

DID I MISS POSTING SOOOOOO MUCH!?!? Okay, enough shouty capitals. Elenor's little brother was born! On.her.birthday. Which is really cool when you think about it but also really sad for her. Or for me? I guess I'm sad that I missed her 2nd birthday. But she didn't seem to mind. We took her to the aquarium and to a really fun restaurant. She seemed okay with that. Elenor has been growing really well. She's just over 30" now and about 22lbs. She's been sick this last week so I think we will see her slow down but that's okay. She's doing really well and I'm proud. We have a neurology appointment Friday. This is a follow up from when we went quite frequently when she was an infant. I'm not sure what there will be to say but I think I need to go just to show her off. When we saw all those specialists we heard time and time again about how fragile she was, weak, and how we couldn't expect her to live a normal life. And look at that little firecracker now! :D Her MRI results had come back normal for her condition. She has congenital external hydrocephalus and macrocephaly. There is another term they used too but I cannot recall it, she has a large brain basically. Her hand and hip ultrasounds both resulted in what we already knew. She has lower than average bone age. Expected. Our geneticist has moved back to India and he is greatly missed. Hopefully we will be able to smoothly transition with a new doctor. I really really really really will try harder to do more updates. I hope that our information is helping someone, somewhere.

Postponed

I didn't have much to write about in the last month because we ended up having to postpone the bone age scan and the CT scan turned MRI. The first postponement came from the fact that our regular hospital didn't have an anesthesiologist who knew how to deal with her particular type of dwarfism. Then by the time we figured it out the month had turned into September and we're in COBRA right now due to my husband's job change. Come October everything should be back to normal so we're scheduling it ASAP - especially since my due date with Elenor's sibling is the 1st. We are kind of out of time.

We also noticed an increase in Elenor's left eye droop. Her OT suggested seeing an optometrist about how it might be possibly effecting her vision. The OT also noted how bad her left ankle is still pronated, even with the braces. She had really wanted her to have a shin brace before and the orthotics doctor disagreed. I think come October we need to make an appointment with them too.

Geneticist Update

So the appointment went well but here comes the next round of tests. Every time we end up getting scheduled for these things I feel a bit panicky because it's kind of the "we're looking for problems" scenario. We've went so long without tests that I had kind of fallen into a comfort zone about it. I suppose this is just how it goes. :(

He would like to do a CT scan to figure out why her head won't stop growing. Her external hydrocephalus should've started slowing down by now but it hasn't. He also wants to do a battery of blood tests including thyroid, carotene, and growth hormone. Lastly, he would like to do the bone age scan that they do for RSS kids. They x-ray the hand and measure the plates and get an estimated age.

Most children have bone age and real time numerical age as the same number. RSS kids have a lot younger bone age to numerical age but as they get older they average out. Instead of staying there the bone age continues to advance faster than the numerical age to the point that their growth plates close and stop growing much earlier than they should for their numerical age. This is why puberty is way too early and adult heights are obtained by ages 12-14 years versus the average 16-25 years.

Oh! And she was 21 lbs even and 30". Her head is 22". And even though it has nothing to do with the doctor I thought I should mention that she wears a size 3 shoe and size 12 month clothing. Her birthday is in October and I'm so excited!

Appointment Tomorrow

We have an appointment tomorrow with the geneticist. Back in June I had asked him to write up an order to have my oldest genetically tested (microarray/SNP) for any defects due to his Aspergers and Tourette's. He does not have a growth deficiency like Elenor but the neurological side of things had me concerned. I suppose I needed to know for sure that it was environmental. In a way I guess I needed to check and make sure I didn't play yet another hand in making a child who wasn't "whole". Elenor having MUPD 2 is extremely rare. Like crazy rare. And the effects of that mutation are really unknown because of that. A lot of kids who are on the Autism Spectrum tend to have mutations on chromosome 2 or elsewhere. Surprised me when he came back clean as a whistle. It doesn't mean that he doesn't have SOMETHING - SOMEWHERE - but it means that he doesn't have what she has. It was a relief. But felt confusing too. It was as if I was desperate to have been told that it was the cause so I could pin it on something. When we found out that Elenor's issues WERE genetic it felt like a weight had been lifted on me and put back on. Having any child with an issue is hard. And confusing. :( I will try and post her stats from tomorrow's appointment as soon as possible. I'm hoping to confirm whether or not she has low blood sugar. A couple weeks ago at her nutritionist appointment she was 20lbs and 29". Her head is 22". Updated picture: