Monday, December 5, 2011


Rob has been refinishing cabinets and floors for the last week or so for a woman that has a 12 year old daughter with 3 different syndromes.  They have had a lot to talk about.  Rob loaned her a book of mine that I found helpful.  She gave Rob a copy of this story I'm about to share.

I've heard it before (not the whole thing, just heard the idea of it), but can't remember where (my sister Amy perhaps?).  I love it and thought it was worthy of sharing here in case someone that would appreciate it might come across it someday.


Emily Perl Kingsley

I am often asked to describe the experience of raising a child with a disability - to try to help people who have not shared that unique experience to understand it, to imagine how it would feel.  It's like this.......

When you're going to have a baby, it's like planning a fabulous vacation trip - to Italy.  You buy a bunch of guide books and make your wonderful plans.  The Coliseum.  The Michelangelo David.  The gondolas in Venice.  You may learn some handy phrases in Italian.  It's all very exciting.

After months of eager anticipation, the day finally arrives.  You pack your bags and off you go.  Several hours later, the plane lands.  The stewardess comes in and says, "Welcome to Holland."

"Holland?!?"  you say.  "What do you mean Holland??  I signed up for Italy!  I'm supposed to be in Italy.  All my life I've dreamed of going to Italy."

But there's been a change in the flight plan.  They've landed in Holland and there you must stay.

The important thing is that they haven't taken you to a horrible, disgusting, filthy place, full of pestilence, famine and disease.  It's just a different place.

So you must go out and buy new guide books.  And you must learn a whole new language.  And you will meet a whole new group of people you would never have met.

It's just a different place.  It's slower-paced then Italy, less flashy than Italy.  But after you've been there for a while and you catch your breath, you look around...and you begin to notice that Holland has windmills....and Holland has tulips.  Holland even has Rembrandts.

But everyone you know is busy coming and going from Italy... and they're all bragging about what a wonderful time they had there.  And for the rest of your life, you will say, "Yes, that's where I was supposed to go.  That's what I had planned."

And the pain of that will never, ever, ever, ever go away....because the loss of that dream is a very very significant loss.

But...if you spend your life mourning the fact that you didn't get to Italy, you may never be free to enjoy the very special, the very lovely things....about Holland.

©1987 by Emily Perl Kingsley.  All rights reserved.

Yes, I am truly learning the many wonders that is Holland.  But perhaps that is easy to do.....for someone that has had a wonderful and amazing time in Italy. 

♥ ♥ ♥ ♥ ♥ ♥ ♥ ♥



Wednesday, November 30, 2011

The Owie

We have been practicing standing and Elle has been doing great.  Look at her!  She is using the couch as a little support and can stand like that for 5 minutes or so on a good day.

We were practicing doing this two weeks ago today and unfortunately she took a spill.  Her little feet folded under her and she immediately starting crying and breathing funny.  I thought she broke it and started examining it.  After a few minutes she totally stopped crying and got really happy.  Her little foot felt warmer then the other though, and I was concerned.  Grandpa took a look at it and then daddy came home and took a look at it and everyone examined it and she didn't mind one bit and was super cute and happy.

The next morning, I gave her a bath and then while dressing her, I put her little leg into her overalls and she started crying. Hard.  And long.  In fact, she finally cried herself to sleep.  I gave her some Tylenol and called daddy before she fell asleep.  He cancelled his job for the day and came home.  I called the doctor and got her an appointment, had a job interview, and then we had to wait for Scout to come home.  The foot was hot again, but didn't appear swollen.  We left when Scout arrived and sitting waiting for the doctor, we could see it was red and hot and a little swollen.  The doctor thought we should take her to the hospital to get xrays, but he really didn't think it was broken. 

She got her xrays, and was totally cute about it, but poor little Scout broke down and cried cause she was worried about her sister.  Sweet little thing, Elle is a lucky girl.  She took the xrays like a champ and both girls were rewarded with stickers and we went home.  We were told to give her ibuprofen and we could see it helping the redness and heat quickly and Elle seemed happy.  The problem with her is that her pain recepters are off.  Believe me, I am happy about that on some level, but pain is a good thing, and when you don't feel pain like everyone else, it can be hard to tell when something is wrong.  It makes mom worry.

We got the results back the next morning and it wasn't broken luckily.  Her PT came over and wrapped it for us and it's doing well.  She complains about it still about once a day and I can feel that it is warmer then the other one, but Motrin sets it right.  We are off most physical Therapy though for another week or so, but hopefully we can be back on track soon.  I hate it when she hurts, it is tough to watch.  Mom is not a fan.  She is a sweet little patient though, and is a total trooper and I know that she doesn't miss physical therapy for a second.

Home from the hospital after a long day.


Also...........we are going to be a bit more careful from now on.  Yikes!  Fragile Little Little.

Tuesday, November 1, 2011


This blanket has been packed away since we moved and this is her first night sleeping with it.  She kept lifting her legs to look at it, so I pulled out the ipod camera.  She did me one better once the camera was out.  Pretty talented moves even when she's oh so tired.

and now..........

(I know you guys are curious)

Friday, October 21, 2011

Classes for Tiny E

Elinor has started two weekly classes this fall.  The first one we go to on Thursday mornings.  It is a motor skills class (fine and gross).  We start with free play where the therapists that run it visit each child and interact, help them find an activity that is good for them, and see how they are doing.  Then we sit in a circle and sing songs with actions.  Then we go to the "ball room" and practice gross motor skills.  They have a lot of equipment for kids to strengthen the areas they need to and be able to play while doing it.  Then we have snack time, honing our fine motor skills again under supervision to get tips and advice on their particular feeding skills.   The above pic is Elle during free play, she is playing a little piano very Schroeder like- I love it. 
This is a great class and once again, I am impressed with Kids on the Move.  Some day, if I have a lot of money, I am going to donate a lot of it to them.
Then on Friday mornings, we head to Highland, and go to a horseback riding class called "Courage Reins".  It is a center that does therapeutic horseback riding for people/kids with disabilities.  It is really awesome!  When it was mentioned to me, I just went -Sure!  Sign her up- as many things like this that help the better I say.  But the first few minutes she was on the horse that first time, I could see what a great thing this is going to be.  I am amazed by what horse back riding could do for her.  It is hard work staying steady on them, and she did really well.  I think before we make too much progress on Elle's gross motor skills, she needs to develop more trunk strength and not just in the abs, and this riding once a week is going to be great for that.  By the way, no- Scout has no idea we do this every Friday.  She is at school and I figure that what she doesn't know that goes on- is just me being a nice mom.
Waiting for her turn to ride
I love this pic (I had a hard time getting a good pic that day, this was as good as it got).
Riding backwards- extra tricky.  Betsy works that girl good.  (Betsy is her PT (in the tan shirt)- she has a Sesame Street shirt she wears just for Elles sometimes.  We like Betsy.)
We were dropped off that first day, and walked to Kohler's to wait for dad.  Almost the entire walk, Elle held her legs out like this.  I don't know if it had to do with her 20 minute horseback ride or not- either way, it cracked me up.
She spent a period with just one leg up at the end there.  So silly.

We saw a katy-did on our way and took a picture of it to show Scout.  Least I could do considering the horses and all.  Mommy really feels guilty little sis gets to ride horses every week.  I really do.  Hope I can keep it from her forever.  We'll see.


Thursday, October 20, 2011

Third One's a Charm

Elle got her third walking device today and this one is a winner!

It is easy for her to maneuver, it has a handle like thing on the back for me to push her (I was breaking my back pushing her around on her last one), and most importantly- it supports her fully giving her good posture while in it.  She was getting way hunchy in her last one and she wasn't enjoying it.

This time, the moment she was put in it by her PT, she got this gleam in her eye.  You could see right away she was comfortable and happy.  It is really springy and nice, it moves with her body when she makes walking motions to simulate natural walking.  Plus, she gets to bounce a little when she isn't walking around and she likes that.  

Very excited about this walker-- just wish it wasn't a loaner.  Her PT said that if it works well for Elle, we can get some letters written to insurance about how they really should buy her one of her own................

Also kind of wish she would go forward in it (she has perfected backwards, but that doesn't help her much).

Go Tiny E, Go!

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!

Monday, October 3, 2011

Thumb's Up

(This was a post I did on my family blog that included some stuff about Elle's sister Scout and Radiohead, so I just posted the Elinor stuff).  Just thought it might look a little choppy if you didn't know that info.



Ellsies got fitted last week with splints for her thumbs.  They are worn all the time, not including baths and eating.  They keep her little thumbs out so she doesn't keep them in like she does and scratch them and all that bad stuff.  If they do their job, they should train her brain not to do that and make them used to being out and have her hands eventually work like normal little hands should.  She has really gotten good at adapting to no thumbs and holding stuff with them in and that is no good, we would much rather her use her hands like humans, as opposed to apes.  They don't seem to even phase her, she is just fine with them on (of course she is, given the tolerant little thing that she is), and we are noticing that she really doesn't do the hand flapping with them on.  She relaxes them a lot more.  Once I take them off however, she has a hand flapping party, but it's only been a couple days, so I would love to see that stop too.  Wouldn't that be awesome?  We are surprised that she stops the behavior with them on though.  Didn't think it would be that dramatic, but it seems to be right now.  So we are encouraged.  

We are heading to Primary Children's tomorrow, going to an appointment/ meeting with her doctors.  Dr. Carey arranged a meeting with us, himself, Dr. Filloux (her neurologist), and I think some interns, etc.  where we are going to go back to square one with her diagnoses.  He told us on the phone that it isn't really that strange if she has Angelman's that we haven't picked it up on the tests yet, (I assume this is because since she only has about 20% of the symptoms, it isn't a stretch that she would be in the lesser 20% cases that aren't picked up by the tests he has run thus far.  He listened to Rob tell him his concerns about her symptoms and things we feel she has lost and digressed in and he mentioned that it could possibly be something biochemical.  I googled biochemical and got a lot of talk about bio polar disorder and schizophrenia and I know that can't be right, so I decided quickly to not google anymore and just wait for the appointment.  I did however mention it to her cognitive therapist and she said he would be talking about babies that are born with an inability to process some metals or proteins or something like that, and so as the thing they can't process builds up, their body starts acting strange and reacting to it.  This is very interesting to me, thinking about the slight possibility it is something like that and wondering if she could be treated with a pill or something.  I don't know, trying not to think about it and for sure not getting my hopes up.  Just interesting.  I'm sure we'll know more tomorrow.   The appointment is at 4, and I will for sure update soon.  I would like to point out how horrible and complicated our day could be tomorrow if Scout actually had to be admitted to the hospital.  Seriously?  Could that actually happen?  Cause I think that is just a little too much don't you agree?  Fates?  Heavenly Father?  Karma?  I am letting you all know I'm not seeing that as being very nice.  (and if it is the way it is going to be, I'm going to need some instructions on how to figure it all out and make it work.)   

***************Elinor Update****************\
Last night's appointment went great.  Dr. Filloux was unable to make it at the last minute, but that didn't really matter to me.  Dr. Carey has been discussing Elles with colleagues from around the country.  Since he had a few directions to go when it comes to our next step in trying for a diagnosis, he thought it best to see Elle again in person before he decided the smartest direction to go.  His recommendation is to go with a broader rett test (his other idea at this point (the idea from a Angelman expert in Boston), is to do an eeg test -which measures brain waves)  apparently Angelman brains have really screwy eeg tests even if seizures aren't present.  If she gets a screwy test result that will tip the scales towards it being Angelman's quite a bit.  BUT given her (I forgot what he called it- the movements she has developed with her fingers), he would point more towards rett.  Here is some good news:  1. She would definitely have a lesser variant of the syndrome, and he would not expect us to see any dramatic losses at this point (ie my fear of losing eye contact and eating capabilities are very very unlikely given how she presents).  2.  Seizures starting at this time in her life with rett (after 2) are highly unlikely.  3.  Since she has shown improvement in all areas of development according to her last evaluation in August and even though we have seen some things drop off her abilities/stuff she does, he said that she would not classify as "regressing".  We figured that any loss would mean she is regressing, but apparently since she is overall showing improvement, that is a promising thing.  4.  Dr. Carey upon observation, feels that her limitations with her hands and body are affecting her cognitive abilities more then we might guess.  This gives me great hope that we will see greater things from her.  She really is more interested in toys these days and she is showing quite a bit of improvement in her motor skills- therefore, they will improve and as they improve, her cognitive skills should improve.  5.  He gave us a bit of hope about some things rett kids can do given her possible variables (ie some verbal skills, etc.)  6.  It was nice again to see with my own eyes such a wonderful doctor being so invested in our little girl and the long amount of time he was willing to spend talking to us and listening to our concerns and explanations (not to mention all the time he has spent discussing her with his peers).  It makes me sad to think that everyone in a situation similar to ours doesn't have the same experience.  We have absolutely hit the jackpot with Elle's team of doctors and therapists.  It makes me a little weepy thinking about how great everyone is and how much they invest in and love our daughter.  That is soooo important to you as a parent.
Also--- Dr. Cary pretty much shelved the idea that she has a biochemical problem yesterday given her overall good health.  She really is super healthy and almost never sick.  That doesn't mesh with having a biochemical problem. 

Original Comments

There were 20 comments on this post, but funny enough, they all mostly had to do with Radiohead, so I left them off.


This is what happens when you spend an hour in your crib partying with your mobile friends instead of taking your nap. 

  Then after falling asleep, sleep for a total of 5 minutes.  
Then mommy makes you practice walking in your gait trainer while she sweeps the crab apples from the driveway.
 I love the little puddle of drool.

Original Comments


Ami Hart said...
Shoot. That's awesome!
Sue said...
Like I said at her birthday party yesterday, her legs are so cute in these pictures!! I love them!! And her face in the picture of her in the crib is too much. Those eyes and lips are so cute!