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.

Onions

On Monday this week we saw a new endocrinologist. When you say her first and last name together it sounded like her name was Onion. Which made me giggle. She told us about how they looked at her growth hormone levels which could be erratic since growth hormones shift at any given point in a 24 hour span of time. They also looked at her base capability of making them. What she told us was that she doesn't have detectable growth hormones but that she's able to make them. Then she said it could be kidney failure, celiac disease, or poor nutrition. That last thing made me want to punch her in the face. From day one of my daughter's FTT diagnosis they keep asking if we feed her and what we feed her and how often. It's ignorance at this point. She eats 3 meals a day, 2 snacks, and breastfeeds in between all of that. To say she 'might' be underfed is a good way of 'maybe' getting me to attack you. :(

Needless to say that just like the geneticist at the same hospital we probably won't be returning. I'm not in the mood to be treated like that. And that doesn't even hit the "tip of the iceberg" which is that they didn't have her bloodwork from 4 weeks ago so a) they were going off of stuff from the summer and b) they needed to take more blood. In Elenor's lifetime she's had 52 vials of blood taken. FIFTY TWO. And what do we know today that we didn't 10+ months ago? Do we have significant answers?

A very good friend of mine listened to me prattle on after this appointment and told me that she thinks I need to step back and stop trying to find an answer. That will come in time. I need to focus on my beautiful little bean and just treat her like I would any other baby I had. She's special, and different, but she doesn't necessarily need to see 11 specialists at 2 different hospitals at the moment. It's okay to take a break. It's not permanent but just a breather.

So consider me on hiatus! Don't tell the hospital - they may go broke without our money! (lol)