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:

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. :)

Genetics and Knowing too Much/Little?

I wanted to post her genetics information here so that other people who may be curious or have the same markers could read the post! Please understand that this information is a lot for us to compress into understanding let alone anyone reading this. I've included links to help explain some of the larger medical terms. I'm also posting an updated 14 month photo with her stats for this month. In a couple weeks she will be 15 months old and I feel at times we are no closer to knowing the long term care than we were when we started this process nearly a year ago.

Elenor has Uniparental Disomy of her 2nd chromosome: Uniparental disomy (UPD) occurs when a person receives two copies of a chromosome, or part of a chromosome, from one parent and no copies from the other parent. UPD could involve isodisomy (meiosis II error) or heterodisomy (meiosis I error).
(http://en.wikipedia.org/wiki/Uniparental_disomy_of_2) - She is diagnosed with RSS but does not match the typical genetic information (chrom. 2 instead of 7 or 11) - thus confusing the genetic team very much!

Elenor is one of only 9 documented cases of UPD of Chromosome 2 with Russell-Silver Syndrome (http://www.nlm.nih.gov/medlineplus/ency/article/001209.htm) Phenotype secondary to absence of heterozygosity. She has left side torticollis, scoliosis, hip dysplasia, hypotonia, hypermobility in her hips, ankles, and wrists, short stature, FTT, hypothyrodisim, no growth hormones present in blood, Clinodactyly of fingers and 4, 5 toes (http://en.wikipedia.org/wiki/Clinodactyly), overlapping toes (2 and 4 overlap 3 bilaterally), severe GERD, plagiocephaly with asymmetrical facial features and triangular shaped face with facial dysmorphism (http://en.wikipedia.org/wiki/Facial_dysmorphism) (http://en.wikipedia.org/wiki/Plagiocephaly), benign external hydrocephalus with macrocephaly, high set nipples, widely spaced eyes (97%ile), prominence of veins between eyes, lip tie, notched bottom teeth, perfect round nevus on left leg below knee, and nevus flammeus on nape of neck.

The loci for her absences are here: (2q11.1-q13, 2q22.1-q31.1, and 2q36.2-q37.3) - The geneticist and counselor we are working with believe it to be a case of trisomic rescue (http://en.wikipedia.org/wiki/Trisomic_rescue) and we are currently awaiting a pituitary stimulation test to have myself and dad to go do mouth swabs to determine who got swapped out and if we are carriers for any recessive disorders. The belief at the moment is that somewhere on those loci's of chr.2q there is an imprinted gene or recessively mutated gene that caused these mutations. At that time we should also be able to determine if the right arm of the 2nd chromosome is a ring chromosome. (http://ghr.nlm.nih.gov/chromosome=2)


Elenor at 14 months:


Stats: 
Weight - 16lbs even
Height - 26.5"
Head Circ - 50cm

Skills:
Hands and knees crawling, pulling to standing, feeding self with fingers, sleeping through the night, and saying around 10 words.