Catching you up

While I have been updating this blog from time to time, I noticed that I have neglected a couple things in Elle's life.  The first thing is that Elle was approved by insurance to get her very own Kidwalk! 

We got to chose the features and the color we wanted.  We picked "raspberry" and it turned out so cute.   She still will only operate it by pushing it back, but it is good for her to be upright and practice.  She'll get it someday and in the meantime, it's good for her to know that she can get around with her legs, even if it is backwards (cause and effect). 

The other thing she has gotten for helping her walk are some braces.  The PT was really, really hesitant to prescribe them for her, but we decided to in the end since she curls her feet so much while standing.  They really just keep her feet straight and help support her ankles.  She only wears them when we practice standing and then I take them right off.  It turns out that they are a big help!  She seems to really like the extra support and is much more willing to stand for longer periods of time and she just seems to have more confidence.
 It was a beast finding shoes wide enough and still in a size small enough not to be an issue.  I went to some fancy stores and ended up finding the Converse at Target fit the bill nicely. 

Oh, and Scout was with us when we got to pick out the braces.  She insisted on pink-which was fine, then she absolutely insisted Elle get the horses for her strap decoration.  I resisted for a while, and was going to go with these pastel colored hearts, but after thinking about it for a bit, went with Scout's recommendation.  I figured that having Scout help pick them out was important.  Having her love and have a bit of pride in her sister's braces couldn't hurt, and Elle is becoming quite the horseback rider anyway.  Scout ended up being right- we love them.

Rob is into fly fishing as you may or may not know.  Online, in a round about way, he happened to stumble on knowledge of a Rett Syndrome fly fishing benefit happening in Idaho and contacted the guy in charge to see if there was anything he could do.  To make a long story short, Rob ended up going, he was one of three Rett dad's there, and Elle was featured in a poster made for the benefit dinner (as were the little girls of the other two dads there) and she was also made up into a card given to all the benefactors along with 20 or so other little girls.
 It was such a fortuitous thing he happened upon it, and he was able to make a lot of contacts and talk to some "higher ups" in the Rett Syndrome Foundation, and learn about an opportunity to get Elles into a study in Oakland among other things.  The consequences of this one little thing could turn out to be very far reaching and it is good for us to get involved in the Rett community- they have proven to be amazing people so far, very welcoming and hard workers about getting things done.   It's great to get some doors opened.  It's one of the greatest benefits of getting a diagnosis- we love that we have a community to belong to and  fall back on and ask questions to.  Even though Rett is a fairly devastating diagnosis, it's so nice to have a name to it, as opposed to just saying that she has some sort of genetic disorder.

I also just wanted to mention that she starts school in a few weeks!  YIKES.  We finished testing at Alpine School District last week and she fell in a grey category where we could actually choose to have her (just for education purposes) defined as either autistic or generally disabled.  I choose autistic, since the school we have her on the waiting list for (and really want) is an autistic preschool.  I figured that would only help our chances of getting in.  She was recommended for full time autistic preschool which means after she turns 3 (in about 3 weeks) she will be GOING TO FULL TIME SCHOOL!!  Mom is trying not to freak out about her baby being gone all day.  I don't just mean my youngest-- she is in so many ways still a little baby and it is really weird to think of having her be in school all day.  I know it is going to be so good for her and when she turns three, she ages out of Kids on the Move, so we won't have that anymore.  It's just hard for me to grasp and think about too hard.  I'll make it though-  I can do this.

Interestingly-- at her tests I found something out.  She was picking pictures out on a poster in front of her as the lady said them.  Stuff she knew anyway (and usually just with her eyes).  She gazed at shoes, an apple, and a cat when asked where they were.  Then the lady showed another page of pictures and kept naming stuff that just simply isn't in her life much, like a glass of milk and Elle ignored her.  At the end, I told her to try the horse, and she did and Elle reached up and swiped the horse!  She has been doing little things like that more and more the last few weeks and Rob and I are very excited.  I think she must be getting her little mind ready for school.  It's pretty exciting seeing the future of communicating with her and that she is starting to be ready to do it.

She is so sweet and content, so it honestly hasn't been much of an issue.  I am pretty good at just knowing what she needs when she seems to need something, but a higher form of communication fills me with great excitement!  It's going to be great. 

Sweet Little Angel

There's more

One in a million? Nope. More like one in billions.

So, we reported a month or so ago that we found out that Elinor has a "fairly unique mutation" of the Rett gene.  We had to wait weeks until we could get an appointment with her geneticist to discuss anything further.  This week we finally got to go up to Primary Children's and visit with her doctor.  As it turns out- when Dr. Carey says "rather unique" he isn't kidding around.  Her variant of rett (which occurs in the MECP2 gene) is labeled c.695dupG and apparently there is only one other case in the world.  He found one match in the database at the International Rett Syndrome Foundation, and found this case mentioned in a science article about the spectrum of Rett disorders in New Zealand.  So that is where the other girl resides.  I say girl, because this syndrome affects the x chromosome, so it is almost exclusively a condition for girls, and I say "case" because there is absolutely no info on this person (child?)  The article was written in 2009, so the youngest this person would be is about 5, but they could be like 40 too.  Who knows.  I do know that I am going to try my hardest to find this family, I would love to see how this girl is doing, and how she grows up, and what she can do and everything about her!  Now that I know there is only one case like Elles, I feel a tie to this other girl and would love to be able to contact them.  Dr. Carey is going to write to the author and see what he can find out.  I am going to patrol around the online Rett community and see what I can do.  I imagine they would be curious to know that Elle is out there too.

Anyway- because of the rarity, we can't really say for sure what Elinor's future holds.  On one hand it's nice to have a group of girls that have the same thing that have been studied, so you can project the future a little.  On the other hand- with Elle, the sky is the limit!  She gets to write her own future.  She gets to tell us what she is going to do and how many words she will say and when (not if) she walks.  We are going to write the book on what this unique little rett variant is capable of.  We are excited and hopeful and know this little girl is very special.  It was a lot of trouble for her little egg self to do the stuff it did to turn itself into the cute little one of a kind (almost) baby it did, so I know it was meant to be.  She is the person she needs to be on this earth and we are so loving the crazy little happy thing that she is.  I've been telling people for a long time now that whatever she has, it's a pretty good version of it.  I was right, I also started saying that she has "Elinor Syndrome" and I was kind of right about that too. 

I am also kind of excited about the possibility of maybe having an excuse to travel to New Zealand someday.  Thanks Elle- glad your double isn't in Detroit or something (just kidding- I don't mean to hate on Detroit or anything, I just have always wanted to go to New Zealand- it's always seemed so interesting and exotic.)