Thursday, May 16, 2013

DNA and the meaning of the three letter word...

I have been thinking a lot about the meaning of one's DNA, the 23 pairs of chromosomes and how they can impact your life forever.
23 little figments of who we are, 23 pairs, why not 24? Pair numbers suit me better.
Anyway, I have been thinking about Chromosome 19, that's the one, the culprit, the one that triggered everything that's been going on in our lives and how it has paved the way towards our destiny...and what we'll make of it.

Another acronym, our life is full of them:
DNA should mean Definitely Needed Answers.
PPD-NOS--Pervasive Developmental Disorder, Non Otherwise Specified...hum means that you are just pigeon-holed into something, but they are not too sure what it means.

ALB--Autistic Like Behavior, what kind of behavior? No Zoé doesn't flap her hands, no she doesn't avoid your eyes, yes she speaks, a mile a minute, in two languages, sings like a soprano, imagines stories that have no end, reads books out loud like Miss Booksie, invents games with her own rules, plays boardgames and card games all day, and yes, perhaps sometimes the behavior is  not appropriate, but does that mean that you are labeled for life?

We already have our genetic make-up, with its faulty chromosome, and then they add this PDD-Perfect Desired Daughter-NOS: Nonetheless Overly Smart!

Well enough wandering and wondering, let's get back to reality. We've had three appointments in 2 weeks:
Shriners Hospital: where we saw Dr. Rab, Zoé's foot surgeon who was ecstatic when he saw her, "No she won't need another surgery", one down, whoohoo.

Dr. Macdonald, the rehabilitation Doctor was amazing, so thoughtful and caring.
Wants another Gait Analysis, to keep monitoring Zoé's walking, which is still slightly twisted, but hey, as the surgeon says" if it enables her to do what her peers do by compensating, all the better for Zoé."
We casted her feet for the umpteenth time and Zoé chose bunnies for the SMOs she'll be getting in 3 weeks, oops, another acronym, I should fill you in, though you might know by now...SMO= supra malleolar orthotics,....a fancy word for braces she'll be wearing all day, but hey with bunnies, everyone will envy her, or so I dream. I know I shouldn't be sarcastic, but sometimes it helps...

Then we went to Lucille Packard's Children Hospital at Stanford where Zoé had her annual muscular dystrophy clinic with Dr. Day. My GOD! He has been working on Myotonic Dystrophy for the past 30 years, so he knows quite a bit about the disease and how it can impact your life.
He spent almost 90 minutes with us!!! Do you know of any other doctor who would spend so much time with their patients?

He was quite pleased with Zoé and he wasn't surprised by the new diagnosis: the dreaded PDD-NOS. Most kids with MMD-Steinert-Type 1...might as well give you the full name....have autistic-like behaviors, mainly due to their lack of socially appropriate behaviors. Zoé tends to play on her own, at school her aid monitors her "alone-time", which could also be due to the fact that she's an only child, that she's been interacting with adults her entire life.

Maybe loving everyone is inappropriate: Zoé tells the horses 'I love you", the therapists, the teachers, the aids, all the wonderful, amazing people that she is in contact with everyday, that she LOVES them, and she means it, too.

The one thing I am thankful for, the silver lining, is that Zoé has opened doors I would have never gone through. I have entered an amazing world, a realm that so few people know about,  the Kingdom of Special Needs, of IEPS, of diagnoses, of hardships and blessings, of tears and laughter, of friendships that have forever changed my life, of support groups and tissues, of red wine and cheese plates, but mainly of a journey I hadn't come prepared for, but that I have embarked upon, with a light handbag that is now a trunk full of ideas, newfound tricks and tools necessary for this voyage of life.
Feeling empowered and arming yourself are indispensable.

Back to Stanford, at the clinic we met a speech pathologist who said she had a hard time understanding Zoé's speech that she defined as nasally, and that we might need to consider a device, well hello! Not in my book!
The occupational therapist we saw was nice, but didn't offer anything I didn't already know.
The physical therapist did recommend these SMOs and asked us to keep stretching Zoé's feet for they are really tight. That's the muscle imbalance that keeps kicking in...

Yesterday we saw Doctor Young at CCS (California Children's Services) and she was astonished at Zoé's progress.
She hadn't seen her in a year, so obviously the hard work has paid off. She came with her therapy dog that Zoé fell in love with instantly. Nico is a gorgeous fur ball, so sweet and gentle. The doctor was amazed that Zoé immediately approached the dog by showing her fist, for the dog to smell her and decide whether or not she liked Zoé. Then she asked the doctor if she could pet him and what his name was. These are the strategies we need to keep teaching Zoé in her daily routines. Teach and Model are the key words. One doesn't outgrow PDD-NOS, but one can strategize game plans to help the day to day life.
Telling Zoé that loving is nice, but that when it is time to listen, it isn't time to give her teacher a hug!
The doctor was also pleased about Zoé's sensori-integration therapies and our use of the 4 Zones of self-regulation. I often remind Zoé that the green zone is where it is at, that one doesn't want to go into the yellow or red ones for they are treacherous terrains, full of booby traps and time outs...

I am hopeful that we are well-equipped for what lies ahead.

Cutting play doe with scissors

Balance beam

Dogs--I love you!
Daddy Time
Jumping on numbers when they light up

Feeding the horse some lettuce.

 Writing letters in small boxes

In the meantime, we send a virtual hug. Hope it is appropriate ;-D


Anonymous said...


You write so beautifully! I hope you are keeping all your blog copy for a book.
Reading through the lines, I thought of your Dad and Mom, both so intelligent but also so warm and loving.
Maybe this is part of the reason Zoe hugs and tells everyone she loves them!

This was an especially encouraging blog re: Zoe's progress. And the photos were lovely. Big Hugs, Catherine

Sarah said...

Thank you for your comment, Cathy.
It really feels good to know that I can share Zoé's journey with wonderful friends like you.
I hope all is well with you and Pieter.
Much love from Norcal!

Anonymous said...

I love the pictures of Zoe, she is so adorable and I miss her soooooo much