World Down Syndrome Day: an equal opportunity designer gene

This week, March 21st, is World Down Syndrome Day!  We are celebrating those who are rocking 3 copies of the 21st chromosome.  Coincidentally, we are also celebrating my brother's 30th birthday.  Happy birthday, Matt!

I could go on and on about Down syndrome and my awesome daughter who sports her designer genes like no other, but instead, I will leave you with this adorably cute picture of Ellie:

Is she rockin' this extra chromosome, or what?!
Where to find this awesome shirt.

and a few facts about Down syndrome with some more pics scattered throughout:

• Down syndrome aka Trisomy 21 is a genetic syndrome present from birth.  It is characterized by an extra copy of the 21st chromosome in every single cell.  This means that a person with Ds has 3 copies of the 21st chromosome instead of just 2 copies. There are two other types of Down syndrome--Translocation and Mosaicism.

• Down syndrome is the most common genetic condition.  It does not discriminate.  In fact, Down syndrome loves all races, cultures, countries, religions, socio-economic status, and gender.  It is equal opportunity designer gene lottery!

Our family truly did win the lottery.

• While the incidence of having a child with Ds increases with maternal age, the fact is that 80% of all children with Ds are born to mothers under the age of 35.  This is because of the higher fertility rate among younger woman.  [Fact:  this Mama Bear was 28 years-old when she got knocked up!]

• There are many stereotypes surrounding Down syndrome and while there may seem to be a little thread of truth behind them, they are just that-stereotypes. My favorite one is "They are happy all the time."  My mommy world would be so much easier if Bear was truly happy all the time.  In fact, just like you and me, people with Down syndrome experience all emotions including sadness, anger, fear, jealousy, happiness, excited, and happy. 

• Just as we consider ourselves unique, a person with Down syndrome has her own personality.  Her own strengths.  Her own weaknesses.  Her own likes, dislikes, and dreams.  She is just that. . . a unique individual.

• People with Down syndrome have difficulty developing gross motor and fine motor skills due to low muscle tone and loose joints.  Imagine wearing thick gloves and a thick snowsuit and having run in that and pick up small objects.  That is what it feels like for my daughter as she tries to put together a puzzle, bring a spoon to her mouth, or as she tries to streak throughout the house.  

• Oh and for those who have been told that people with Down syndrome never walk . . .

• Many people with Down syndrome have a hard time learning how to talk and may, at times, be difficult to understand.  This is because of many factors such as low muscle tone (ie jaw and cheek muscles, tongue, lips), small mid-face, high arched palate, and abnormal dentition.  I dare you to shove your mouth full of marshmallows and then try to say your "Sally sells seashells by the seashore".   Tasty, perhaps?  Difficult, yes!  

• People with Down syndrome are happy with their lives and many of their siblings say that their lives have been enriched due to having a brother or sister with Down syndrome.

• Parents of those with Down syndrome love their children, are proud of them, and feel that their perception of live has improved because of their children.

• People with Down syndrome are contributing members to society.  They hold down jobs.  Some in sheltered workshops.  Some as grocery store baggers and fast food clerks and some as preschool teachers, public speakers, and even restaurant owners.  They enrich the lives of those around them and encourage people to look as the ABILITY in disABILITY.
• 
  

• Adults with Down syndrome want to have meaningful relationships.  They want to date and some even marry. Read about Monica & David or Shelley and Bill.

• From the mouth of my dear friend Julie at Upside Down: I never knew I wanted a child with Down syndrome until I was given one.

References:

Skotko BG, Levine SP, Goldstein R. 2011. Having a brother or sister with Downsyndrome: Perspectives from siblings.
Am J Med Genet Part A 155:2348–2359.

Skotko BG, Levine SP, Goldstein R. 2011. Self-perceptions from people with Downsyndrome.
Am J Med Genet Part A 155:2360–2369 

Skotko BG, Levine SP, Goldstein R. 2011. Having a son or daughter with Downsyndrome: Perspectives from mothers andfathers.
Am J Med Genet Part A 155:2335–2347. 

National Down Syndrome Society.  www.ndss.org

How to give a baby a bath: Pretend Play

By Ellie

Make sure you wash the baby very vigorously with a wet wash clothe.  Pay special attention to the nose because babies tend to be extra snotty.  Scrub scrub scrub.  Do not worry about letting the baby come up for air.  Baby dolls are amphibious.  

It is permissible to multi-task during bath time.   For instance, The Wiggles provide a great source of entertainment.  Just be sure to keep your hand on the baby while in the bath tub.  "hot potato hot potato.  potato potato potato.  cold spaghetti cold spaghetti"  What?  Oops.  I got distracted by The Wiggles.

When bath time is complete, don't forget to smother dry the baby. 

It is really much more efficient to bath all your babies at ones.  It saves on water.  In fact, oftentimes I like to climb on in with the babies.  The more, the merrier.  Wait?  What do you mean that one baby can't get wet?  It's not a bath baby?  Well what is that supposed to mean? Ooops.  

Most importantly, don't forget to give you baby lots of love and snuggles.

  

It has been wonderful to watch Ellie's playing evolve over the past year.  While she still loves building blocks and putting objects in buckets (or the freezer, or the dishwasher, or random drawers), she is starting to incorporate pretend play into her daily routine.   Right now, her babies are her absolute favorite.  Baby gets a bath.  Baby goes potty.  Baby gets yogurt (yes, real yogurt from a real spoon--hence the introduction of the bath).  Baby has her heart and temperature checked.  Then baby gets thrown across the room.  hmmm.  Nonetheless, I feel as though I have watched Ellie blossom from a baby into a toddler into a preschooler.  What do your kiddos like to do?

Continued Fear and Unparalleled Love

*I apologize in advance for some missing photos - I used Photobucket for free as a means to store my photos and they are now holding a few hundred pics of mine for hostage unless I pay for an expensive plan and I also managed to lose half my photos from my computer*


Ever since Ellie's ENT appointment last week, I keep going back to an old post of mine--Overwhelming Fear Over a Little Girl in a Pink Dress.  In the past 3 months, both of Ellie's ear tubes have fallen out and the right ear is already full of mucoid fluid.  Her hearing is affected.  She has suffered from chronic adenoiditis since January and they are obstructing her airway.  As are her tonsils. This means that next month, my little Ellie Bear will under go the trifecta of ENT surgeries--Tonsil removal, adenoid removal, and the insertion of ear tubes (her 4th set of tubes).

Oh you mean, these tonsils????
This photo was taken 1.5 years ago.  Those little bad boys have nearly doubled in size.  

I know that a T & A and ear tubes are minor surgeries, but they are still surgeries and this is my daughter!  Those old feelings of fear creep into my mind.  Paralyzing me.  I just want to hold my little girl close and protect her.

Overwhelming Fear Over a Little Girl in a Pink Dress
*a re-worked post from June 2012 with some new photos*

The Little Girl in the Pink Dress. . . Ellie Bear. . . My Love, My Life

My daughter is so beautiful that it hurts.  She is so amazing, so precious, and just down right sassy that my heart is over flowing with love for her.  How is it possible that she is my daughter?  She is a gift.  A priceless gift.  And I fear that I will lose her.  That she will be taken from me all to soon.

Is this something that all mothers feel?  Is this why mama bears are so ferociously protective of their cubs that they will kill a human or another animal that trespasses too close to their family den?

When Ellie was a little over 6 months old, when she went into anaphylaxis due to eating a small amount of infant oat cereal.  A surprisingly rare allergy.  I drove so fast to the nearest hospital and by the time I arrived, her little lip was swollen and she was gasping.  A high pitched squeak was released with each breathe.  I fear for her life.  I later on felt a chest crushing fear every time a little child walked by with a Cheerio.  A cheerio could kill her.  Those infant puffs could kill her.  Thankfully, she has outgrown this allergy.

When I watch my precocious little adventurer climb that 2-story playscape, I have moments of mommy panic.  What if she falls and breaks her neck?  Yet, I know I need to let Ellie develop her independence, test her boundaries, and practice her gross motor skills.

Every time I am in the car and I look back to see an empty car seat, I have a brief moment of fear. Oh right, the car seat is empty because I have a babysitter or she is home with Andrew.

Then there are those scarier times when Ellie has her routine blood draw.  Her complete blood count [CBC] is routinely measured to look for signs of leukemia.  A cancer that could ravish her body and could take her from this world, from me and Andrew.  A cancer, that while rare, is more common in children with Down syndrome.  Oh how my stomach drops and my heart freezes as I hear the nurse on the other line calling with the results.  Oh how my huge sigh of relief could be heard across Texas when I hear that "everything is normal".

Then in June, when I rushed Ellie to the ER at the recommendation of her pediatrician to rule out meningitis.  Again, adrenaline seized me and fortunately it all turned out okay.

Or just this past Valentine's Day, when my little spider monkey decided to sky-dive off the side of a chair, bonked her head, cried, stopped breathing, and then seized.  It was Ellie's (and my) first ambulance ride.  I stared in horror as I witness my baby continue to have absence seizures the entire way to the hospital.  Yet, again, her guardian angel worked over time for her.

Facebook and the internet are dangerous places.  Facebook and internet forums can be excellent avenues for support and yet, they are also where I learned about another little girl Ellie's age diagnosed with leukemia.  They are where I learned that a little cousin was in a horrendous car accident required multiple surgeries to realign her shattered bones.  It is where I saw my friend's little boy miraculously survive Steven-Johnson's Syndrome after having a rare reaction to an antibiotic.

I have seen too much.  It is my own fault for opting to work early on in my career as a pediatric intensive care unit nurse.  Many of the accidents and illnesses that I have encountered during my years as a nurse were rare incidents. They were unlikely and yet, they serve to remind me just how fragile life is.

This is my absolute most favorite photo of me and The Bear.  

I never knew it was possible to love someone so much, with every ounce of my being until I became pregnant. In those first few moments when I saw Ellie before the nurses whisked her away, I knew that life would never be the same.  Yes, I have a fear of losing my little girl and yet, it has made me forever grateful for each moment that I spend with her.  Tell me, am I the only one who has this fear?  Hold you little ones close and whisper those sweet words of I love you.

***

Yes, The Chunky Chicken does own quite a few pink dresses.

Who I Am

World Down Syndrome Day, March 21st, is rapidly approaching and the International Down Syndrome Coalition [IDSC] has launched a photo campaign called "Who I Am" to spread awareness about Down syndrome.

Rocking Her Extra Chromosome for World Down Syndrome Day 3.21

I am here to be Ellie's voice.  Since I seem to have a camera glued to my eye, I believe that I have captured the "essence" of my daughter.  Her spunkiness.  Her wide range of emotions.  Mostly, I have documented her awesomeness!


Who She Is. . .


She pushes the limits [and mama bear's buttons!].

Me? Climb?  Never!

She loves to entertain her 'friends'.

She thinks cupcakes are their own food group.

She is a typical 3 year-old who likes to be heard.

She is a princess.

She loves animals.

She loves to steal talk on the phone.  And run up my long distance bills.  And did she just call England?

She likes to "strike a pose" while on the phone.

She is a student full of intelligence and curiosity.

She is a daughter who is loved deeply.

She is. . . .

Ellie.

Mother-Daughter Sabotage

That's right!  It is time for another edition of "why there are no good photos of mama bear with Ellie".
I brought my camera with me to the delivery room because there was no way that I was going to miss any second of my daughter's life by not capturing it, forever in time, in a digital image.  Besides, it was imperative that I post the princess to Facebook immediately after getting my netherlands stitched up.  Then, I got an iPhone.  Did you know they put cameras on those things?  Decent cameras with a flash built right in?  Needless today say, my daughter is used to her mama bear holding a camera and snapping away.  The Diva Bear, endlessly stalked by her paparazzi mom.

Did you know, that if you are the one holding the camera, you rarely end up in the photographs?   Sadly, being the worrier that I am thinks "if I were to suddenly get struck down by a speeding vehicle, Ellie would grow up not knowing what her mother looked like.  She would not have any pictures of the two of us to frame".  Morbid, I know.

Anyway, I was trying to find some research on mothers not being in photographs and this is what I discovered on a google search of hidden mothers

Invisible Mothers, 1800s Retronaut

photograph: courtesy of www.ridiculouslyinteresting.com

Does anyone else find this creepy?  Apparently, this was a typical practice when trying to expertly capture a sharp image of a wiggly baby in the 1800s.  In the 1800s, photographs required very long exposure time and hence why in so many of those grainy, yellowed pictures the people are not smiling.  Now imagine trying to keep a baby/toddler still for that long.  Imagine having you head covered with an quilt or draped with a curtain for a few hours while you hold squirmy child.

The above makes me very grateful for my snazzy little SLR camera and cell phone camera where I can have an image in seconds.

Moving on!

On the rare occasion that I can convince Andrew or a visiting family member to snap picture of sexy mama (sucking in her post-baby of 3 years belly), Ellie does this:

Left: Cleavage!  Oh wait, don't look at that. . . escaping child.
Right: my eyes are closed while Ellie is escaping. . . again.  Notice a theme?

Nothing screams "MODEL" like having a hand in front of my face (and a really lovely form-flattering winter coat).  Looks like I am flipping of the camera when I am actually shoving my seriously hot librarian glasses back onto my face.
Ellie does have the I'm -too -cool -for -words stare down.

Oh come on!  Is it really torturous to sit with me?  For 5 seconds.  That is all I ask.
Such a Drama Queen : "Oh save me!  Save me from sitting with mama.  She is so evil.  She wants me to actually sit and *GASP* smile!"
It should be noted that Andrew nearly cut my head off in the picture on the left.  I am really trying not to read too much into that.

a

A little over-exposed, but I love this one.  Ellie's face is precious.  It is as though she loves me or something!

An uncooperative model can lead to bad photographs. . .but most of all. . . it all comes down to the photographer.  That's right.  I am laying the blame at Andrew's feet. Ha!  He just wants to look good.  Like he is the preferred parent.  Because we all know that Ellie is, indeed, a Daddy's girl.

Stinker!

Some oldies but, goodies of the "Rarely Photographed Mother-Daughter Duo":
Rarely Photographed
A Perfect Photograph

Upper right: she looks afraid of me :-/

This one is still my favorite.

As to the "hidden mothers" that I googled. . . I finally found the Huffington Post Articles I was looking for:

The Mom Stays in the Picture

Moms Explain Why They're Getting Back In The Picture

Ugly R*tarded Baby Girl Toddler: Spread the Word Ellie Video

*This is a re-worked post in honor of 3.6.13 Spread the Word"*

I bet this post title really got to you or at least caused you to open the link. Hopefully, you are fuming. What is it that pisses you off the most about this title? That makes you cringe?  Certainly not the "baby girl toddler" part.  Maybe the "ugly"?  How about "retarded"?  BAM!  R*tarded.

Today, I am not going to go on my soap box about the r-word.  I have done so on many occasions on this blog and you can read those posts by clicking on the :stopdisablityslurs: label on the right column.

Instead, I am just going to lay it out like this: a google search will bring up the following picture if you type in "ugly retarded baby girl toddler".

Yes, that search brings up Ellie's picture.  Is she a toddler?  Yes.  Is she ugly?  Not in my opinion.  Is she retarded?  Yes, in the medical sense of the word, which has now respectfully been changed to intellectual disability.

Chances are, this blog was stumbled upon with that horrendous search term because I have discussed the r-word many times and because I call my Ellie a baby girl or a toddler. You throw those combination of words together and there you have The Chronicles of Ellie Bellie Bear on the google search results.

Why on earth someone was searching for a "r*tarded" baby girl toddler, I do not know.  What I do know is that 1.5 years ago upon checking my blogger stats, I was hurt by those search terms.  "Ugly R*tard Baby Girl Toddler".  I cried.  I cried for my little girl and all of the others out there who are viewed as "less than".  Because, after all, people fling around the r-word as a means to say "less than".  That is so retarded as in that is so lame.  I am so retarded as in I am so stupid. As in something is better than what is termed r*tarded.  R*tarded meant as an insult.  Use to degrade. Whether you say it to my daughter or as a means to poke fun at yourself, I do not care.  It still hurts.

I believe Special Olympics and Down syndrome advocate John Franklin Stephens got it right in the NY Times Article: A Word Gone Wrong "people can be thoughtless and cruel, or well-meaning, and never know the damage their words can do."

I hope whoever stumbles upon Ellie's face by searching the above is startled by what he/she sees.  For when I look at my daughter, I see a beautiful little girl who is perfect.




Ellie Bear's Spread the Word To End the Word video

March 6, 2013 is the national campaign day to Spread the Word to End the Word.  The word being the R-word.  Take the pledge now.

"But none of these dolls look like me": Dolls for Downs

Growing up, I remember receiving the American Girl doll Kirsten for Christmas.  At the time, there were only 3, yes three, American Girl dolls to choose from.  There was no red-headed, curly-haired doll like me.  With freckles.  In fact, you couldn't really find dolls with red hair in general.  Now, you can customize the dolls.  Meaning, you can pick out their skin tone, hair color, hair length, freckles, eye color, etc.  You can create a doll to look like your child . . . provided she/he is deficient in that extra chromosome.

This is why I am so excited about  Dolls for Downs!

©Dolls for Downs: Hannah proto-type

This is Hannah.  She is stunning, isn't she?  Beautiful almond-shaped eyes.  A perfectly round head, with chubby cheeks, and small, flattened mid-face. A small nose.  The whisper of a smile.  A face that looking back at me, resembles my darling Ellie.  My beautiful, blond-hair, blue-eyed munchkin who happens to have Down syndrome.

Can you just picture the blonde doll?  Like my Ellie? Maybe more like Ellie when she had bangs? I cannot wait until the blond, blue-eyed doll is revealed.

My daughter and so many others rocking their designer genes can now have a doll (boy or girl) that looks like them--complete with sandal-gap toe, the single palmar crease on the hand, and a post-heart surgery scar (if requested).  Wheel chairs, trachs, feeding tubes, and leg braces are also available to truly make this doll "just like" your child.  Can you tell that I am excited?!

©Dolls for Downs: sandal gap toes!

Hannah is not just a doll.  This durable, beauty is meant to be played with and the doll's creator, Connie, designed her so that she would also function as a therapy toy.  Can you guess that a mother designed this toy?  A mother who loves her daughter so much that she not only designed a doll to look just like her daughter, but to also cleverly sneak in a bit of Occupational Therapy.  Now, that is a true mama bear!

The clothing that comes with the dolls are meant to create a sensory experience with their varied textures and they allow for manipulation of buttons, zippers, buckles, and velcro.  Fine motor skills will be further developed as your child dresses his/her dolls and works his/her fingers over those ties and buttons.  These dolls are made to be played with and even get wet.

©Dolls for Downs: Logo

Hannah and her friends have been a labor of love.  The idea was inspired by the Connie's daughter Hannah, when flipping through a doll catalog she [Hannah] said "“‘Mom, none of these dolls look like me. Not one of them.’

Well, Miss Hannah, now there are a series of dolls that look like you!

Visit: Dolls for Downs to learn more about the doll and about pre-ordering.  The projected release date is May 2013.  I do not know if I can wait that long!  After all, I anticipate ordering the blonde-haired, blue-eyed doll that coincidentally happens to be named "Ellie".




www.dollsfordowns.org
www.facebook.com/DollsforDowns/
@DollsforDowns




*I have received nothing for writing this post.  This is just my honest, excited opinion on the awesomeness of this doll.**

** All doll photos are courtesy of ©DollsforDowns