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:

Catching Up!

It's so strange when your child who hasn't ever really done something on time suddenly starts doing everything they are supposed to. Elenor has mastered almost every skill a 1 year old should and possibly even more. She got new AFO's so her walking has really improved and even though her head continues to grow she has really learned stability with it.

Sometimes it's really hard to think of how far we have come and what it all ever really meant. If all of the doctor's appointments were in vain when it came down to something no one could help her having. Genetic stuff is crazy and often really hard for people to understand. Me included. I want to understand everything her condition means and what we should expect for her 5, 10, 15 years down the line when she's eventually entering adulthood. Having children. Living a BIG life even though she's LITTLE.

I love my bean. And nothing will ever change that. No matter how many labels the doctors have given her there will only ever be one for me. Love.

Chatterbox

I recently realised when talking to an acquaintance that Elenor is quite the chatterbox in comparison to other kids her age (and even a bit older) and to be honest it feels nothing but GOOD that my daughter who slips behind all of her peers in so many other things EXCELS at this one thing.

Yay Elenor and your 100+ words at not even 2. :D

This is Elenor

Elenor is pretty much the cutest little baby I've ever met (and this is coming from someone who has 2 older kids!) She's ridiculous sweet and loving, so talkative and a little piece of my heart.

March 21st

This was the day we learned that Elenor had external hydrocephalus. The day of her MRI. The day that I felt so selfish because it was horrible for me to be breastfeeding her and not being able to do so from the night before on. Seeing her screaming tiny self so desperately wanting us and having to hold her hand from underneath the table so she couldn't see me.

Besides being very small she was extremely lacking motor skills. She was born with a sacral dimple and a patch of fur on the base of her spine. We weren't sure what it all meant. The findings of the MRI were simple: her spine and chord were intact but she had external hydrocephalus of the subarachnoid spaces.

Later that day we also had hip slides taken to find out if she did in fact have hip dysplasia. She did.

I think that in a lot of ways that day changed a lot.