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.

Walk the Line

Elenor is walking all the time now. Everywhere and in everything! She's crazy!! She will get new SMO's (sure steps) in a couple weeks since we are still seeing a ton of hyper-mobility in her ankles and her arch is still terrible. We are upgrading from bees to butterflies, I hope she loves them. 

We ended up having to stop the growth hormone as she was having a terrible reaction to it. We are fairly confident that she was having a type of maple syrup urine disease come through. Her sweat and urine smelled horrible, like salted maple syrup. She was miserable too, hours after her growth hormone shot she would act like a speeding train. Uncontrollable and sad to angry to happy. Since stopping it she has been healthy and happy but without the awesome growth we were seeing. :(

She had a case of croup last month and that was very scary. It came on so fast and so out of the blue that I almost thought it was whooping cough, alas it wasn't. She is my first child to ever have croup! After a shot of steroids and some oxygen at urgent care she was already feeling a lot better. She bounced back fairly fast and seems to be raring up for summer. 

Elenor recently found out that she is going to be a big sister. I'd love to say she seems excited but at 19 months old I'm not sure she entirely grasps that her world will change in a few months time. ;)

Walking!

Well, we are 17 months old and acting pretty strong these days. We've gotten her to take 3-5 steps pretty consistently! I think she's honestly really scared, she seems eager to walk but just so skeptical as to how safe it is. I think that's what has been hard for her, she's so smart so she understands the pitfalls of life and never just DOES. That's weird to say about a baby but it's true.

Elenor has gotten super interested in her peers and especially big kids. When we are at her brother's school she just stares at all of the kids walking by. She loves watching them!

No doctor's appointments really. We've been doing the growth hormone and it appears to already be working. Her nutritionist said she jumped 1" and 1lb this last month. The most she's ever gained in one month!

We just finished up with Spring Break and tomorrow is her big brother's 6th birthday! We have so many fun things planned and I just bet she can't wait to sink her teeth into some cake.

Forgetting

Sometimes you forget how to get online and talk about your daughter. It's like the whole world consumes you and you somehow miss that it's almost March and you haven't posted since right after the New Year.

Elenor is doing well. She is up to 17lbs solid and 27 3/8". Her head has seen another jump gaining almost 5/8". We saw her geneticist just this week (Monday) and found out that I, her mother, am the reason for the  duplication in her 2nd chromosome. An exact copy of me if you will. So now we sit and ponder if I'm a carrier for some recessive disorder lying dormant in my genes that somehow managed to unleash and copy itself to form an exact disorder or syndrome. Baffles me and blows my mind. Maybe that's not it at all and she just has some crazy thing that happened that created her issues. Who knows.

We received our growth hormones in the mail yesterday. It was awkward coming up on the porch to this box with a penguin on the side of it (for refrigeration). Opening it up I found a large thermal bag filled with ice packs and two small boxes. Also in the box was a sharps container, alcohol swabs, and insulin needles. We received the pen last week to give the injections. I contacted the genetics office and they told me that we had completed training according to the fax they received (we hadn't talked to anyone or seen anyone!) So, hopefully a nurse will contact us in the next few days to let us know when they can come by and show us how to do things. I'm terrified. Sad to do this to her.

I think the hardest thing is the recent realisation that living this life and dealing with these stresses has caused me to be scared to leave the house. As if I can control what goes on here but I can't anywhere else. I don't want to be that person but today I fully realised that I have almost no control on how I actually feel.

Hopefully things will look up soon. :)