Monday, October 31, 2011

Ahhh, October

October is Rett Syndrome Awareness month.  I've been meaning to write this all month but just haven't gotten to it until now.  Last year at this time Emmy was so close to walking independently.  She was a very content little girl.  She sat and played with her toys, flipped through books and had some words.  This year is much different.  She is walking which was a huge triumph but some of her gross motor skills have become harder for her.  She has lost most hand function and all of her speech.  She wants so badly to play, to communicate, to stop her hands from fidgeting but is simply unable to make her body do what she wants it to do.  It is because of the frustration I see on her face and hear in her screams I am sharing this information.

  •  Rett Syndrome is a severe neurological disorder that affects 1 in 10,000 girls.

  • For the first 6 to 18 months of life girls develop normally.  When the disease kicks in it either stalls their development or begins to drag it backward.

  • The most severe problem girls with Rett Syndrome have is apraxia, which is the inability to carry out motor movements.  Emmy knows exactly what she wants her body to do but can't make it work.  Imagine how maddening that would be!!!!

  • Girls with Rett Syndrome often experience many  medical complications such as; problems chewing and swallowing,  seizures, abnormal breathing, gastro-intestinal issues and heart problems.

  •  Rett Syndrome is a SPONTANEOUS genetic disorder. That means that it doesn't run in families - ANY expectant parent is at risk for having a child with Rett Syndrome. Rett Syndrome doesn't discriminate - all races, ethnicities and economical statuses are affected.

  • Girls who have Rett Syndrome have a mutation on their MECP2 gene which is located on the X chromosome.  Girls have two X chromosomes so therefore have one healthy copy of the MECP2 gene.  Boys have only one X chromosome so if they have a mutated MECP2 gene, they usually do not survive.  To learn more about Emmy's mutation type click here

  • Dr. Andreas Rett of Austria first recognized Rett syndrome in 1954 but it was not acknowledged in the U.S. until 1982 when Dr. Bengt Hagberg of Sweden wrote about it in English. In 1999, the gene causing Rett syndrome was discovered in the lab of Dr. Huda Zoghbi in the U.S.  Once the gene was discovered, girls were able to have a blood test to determine  whether they had a MECP2 mutation.

  • Life expectancy isn't certain as most girls identified are younger.  It is expected that girls live into adulthood barring any illness or complications.  Deaths are often sudden and unexplained and attributed to seizures, swallowing difficulties, lack of mobility, compromised lung function, accidents and illness.  

  • In 2007, symptoms of Rett Syndrome in mice were reversed in the lab of Dr. Adrian Bird in Scotland.  This reversal has provided much hope for those living with this disease everyday.  Now, they just have to figure out how to do this in humans!

  • Rett syndrome is often characterized as a “Rosetta Stone” disorder that can give insight into a host of other larger disorders such as autism, Alzheimer’s, and Parkinson’s.  Funding research for Rett could help solve the mystery behind these other devastating neurological diseases.

  • The first human clinical trial to attempt to treat the underlying mechanisms that cause Rett syndrome is underway at Boston Children's Hospital.  They have completed the first phase of the study and have seen promising results!  Read more about the study here

Friday, October 21, 2011

A Good Morning

Emmy woke up about 10 after 6, not bad.  I brought her into bed with us and although she didn't lay there long she was pretty content.  I brought her downstairs (Ava was up and came along) and changed her diaper.  No complaints.  No biting or hitting.  Then, here's the kicker, she walked over to her books I had up on the chair and she flipped through them.  Not perfectly, there was still a lot of tapping, but she had a smile on her face.  I even went into the kitchen and finished up some dishes!  There was no screaming, no throwing the book, just little giggles and great hand control.  Then...then before I went to walk the dog she walked over to me with her sippy (no handles) in her hands.  She stared at me and then down at her sippy for a good couple of minutes.  She took drinks, unassisted, and didn't drop it!  Now, she still can grab stuff occasionally but never hold on to it for any length of time.  John and I sat there and just watched.  The whole morning there was no screaming, hitting or biting.  I got her dressed for school and she even let me put her hair in piggies (wish I had a picture to share, so cute). 

I know, I shouldn't get too excited because it could just be the day.  But my HOPE is that maybe we're turning the corner.  Maybe she will regain some hand control.  Maybe that will make her happier.  See the hardest part about dealing with Rett Syndrome hasn't been letting go of my dreams for her.  I have accepted the fact that her life course will be different than what we expected.  And that's fine, we love her just the same.  The hardest part has been watching her suffer.  Watching her face turn blue while she's unable to breath is hard.  Watching her stare at her hands and scream in frustration because they won't do what she wants is hard.  Listening to her cries and knowing she has so much she needs to tell me but can't is hard.  I just want her to be happy, at peace.  I find myself praying for just that, peace, in any form God can provide.

So today the sun in shining (after days of rain), it's not too cold, and I have two happy (even if just for this day) girls.  Today we'll get outside and soak in the autumn sun...and be ohhh so grateful for our good morning.    

Tuesday, October 18, 2011

Spaghetti Dave

Last weekend we went to John's parent's house to celebrate his dad's birthday.  Spaghetti Dave made his famous sauce and I ate until my big belly was about to burst.  The girls had a great time goofing around with their cousins...

Ava and Ella hitch a ride around the basement

Emmy studies Elmo with Morgan

I don't think the twins took those princess dresses off all weekend!

John with three of his siblings...Joe, Michelle and Marie

Emmy getting silly with Mimi

The birthday boy

All those dirty little fingers going for icing

Getting ready to go out to the bonfire

On the way to the car

Now, I don't remember my responses exactly but I do remember Ava's questions.  This is about how it went...

Ava (staring at the handicapped parking space signs):  "Mama, why are there handicapped people?"

Me (pausing for a moment to contemplate how to approach this question):  "Some people have bodies that don't work the way they want them to, like Emmy."

Ava:  "But when Emmy grows up, her body will work?"

Me (now sitting in the front seat, thankfully not facing Ava): "No, even as Emmy grows up she won't be able to use her words to tell us things and she won't be able to use her hands to play with dollies the way you do.  She wishes she could do those things but she just can't make her body do them.  But we keep hoping that one day doctors will find a way to help Emmy."

Ava:  "Oh, that stinking disease...I want to kick it in the face!"

Me (now laughing outloud) "Me too, Ava."

Ava:  "Do some kung fu on it."

Me: "Yea, some kung fu"

It went on like that for a while.  We released a little anger and got a good laugh all while Emmy sat in her seat smiling.  I'm sure if she could pipe in, she'd have some ideas about what she'd do to this stinking disease too. 

Monday, October 17, 2011

Here's an article I came across this morning.  It is beautifully written and describes the challenge of parenting for just today....not for a future you're unable to control.