Wednesday, October 19, 2011

Elinor in a Nutshell

Elinor is a sparkling, loveable 2 year old baby girl .  She was born happy and healthy with just a few silly quirks (like sucking her tongue and using her feet like a monkey).  As she got older, her mom noticed that she was slow to reach her milestones.  She reached her first birthday without walking or crawling or standing.  She was just so loveable and content and happy, they chose to ignore the nagging worries about it and went on with their lives and just enjoyed her.  By 15 months, mom was unable to ignore it anymore and took her to the doctor with her worries as the focal point.  She was told she was doing ok, but maybe they should watch her, but was given the number of a local program called Kids on the Move and the doctor suggested calling them might do the trick in pushing her to walk.   Calling them was one of the greatest things mom could have done.  They work with kids 0-3 in the local school district who have delays to help them get moving.  Well, Elle was evaluated and accepted and soon was observed by her therapists there to have more significant delays then suspected. 


Then came referrals to Geneticists and Neurologists at Primary Children's Medical Center.  At the Geneticists appointment, the doctor suspected Elle had Angelman's Syndrome and his second guess was Rett Syndrome.  Both are neurological/genetic disorders.  After over a year and many tests including an MRI that all come back as "normal", we finally got word that she has a rare  mutation of Rett.  So rare in fact, there is only one other discovered case in the world with her particular mutation. 

Her variation can be categorized as mild, but even mild Rett is fairly severe.  We understand that she will always be mental delayed, but I look at that as one of the greatest blessings of Elinor.  We can hardly explain what the presence her beautiful spirit has done in our home.  I also love that despite so many physical challenges she faces, she is content and happy mentally.  As a mom, that makes me feel good, because ask any mom and what they want for their children and they will mostly come back with "for my kids to be happy".  Well, that sure makes it easy on me.   I know she won't get to experience life like the rest of us do.  She won't get a college degree or get married, drive a car, etc.  But she is happy.  She never gets frustrated when she is unable to do something.  She just sweetly tries again.  She has a 6 year old sister that she loves to watch and makes her giggle more then any one else in the world.  She loves to play and she loves a good ruckus.  The more people and chaos around, the more excited she gets.   She loves to play with her daddy.  He has some little games he plays with her that make her little eyes sparkle and makes her giggle with anticipation.  And she loves food, oh how she loves food!

Elinor is just the biggest sweetheart, and such a shining bit of joy in our lives.  She is the easiest most content baby you will ever come across.  She will only complain if she is getting too hungry or too tired.  She has started fidgeting with her fingers and thumbs a lot, and it is hindering her ability to use her hands real well.  She used to say a few little words, but now doesn't form any real words and mostly hums or groans, but she seems to be trying to communicate a little.  She is working hard at moving (she will not generally move on her own, if you put her in an awkward position, she will hold it and balance until she falls or you move her.)  Her little brain resists moving on her own, which is something we are working to overcome.  She is rolling to her side quite a bit these days which is a good step.  She also (after a year or so of trying), can now sit up from a lying down position using only her abs by swinging her legs in the air and using that force. She most likely will never say more then a handful of words, but we are working towards a lifetime of communication that involves things besides speech.    She has less control over her left side then her right.  We are currently working on trying to form pathways from her brain to her left hand- cause that hand has no idea how to feed her.  It will one of these days, but not without some work.  It plays with toys alright though.  Go figure. It also isn't noticeable unless you are looking for it.   She is diagnosed with microcephaly (small head size), and it has had very little growth in the last year.  It doesn't look disproportionate to her body though.  In fact, she doesn't show any structural or physical signs that she has a genetic disorder.  We have every confidence that she will walk someday.  She has a walker right now that fully supports her and  most days she will get it going backwards pretty good.  She has low tone in her hips, which makes her have a big case of spaghetti legs when you try and get her to stand, and when she isn't standing, I refer to them as "frog legs".  She got braces for them recently and is standing much better these days, with just a little support.  Taking a step seems a long way off still though.


We are taking things one day at a time, and loving it.  As of now, she is an absolute delight, so we are going with that.  She's so fun to be around and sweet and is always good for a cuddle and I take full advantage of that.  We love you Tiny E!


Amy said...

I love your new blog, Em. I think it's wonderful. I know it will inspire and enlighten many people. You're such an amazing example of a mom. I'm so glad to have Tiny E in this family. She will continue to spread lots of love around this world and teach us all so many things.

Suzanne said...

I loved reading this post. It's wonderful. Elinor is beautiful! I have a daughter who is 7 and autistic and severely delayed mentally. I've thought often how when she is happy, the mental delays simply don't matter, or matter very little, so I can understand well what you are saying here. I'll be following your blog!