Tuesday, September 23, 2014

Diagnosis, no diagnoses!

Hi All,

Friday was an eventful day for Zoé.

We went to Shriners Hospital in the morning and saw a doctor who fitted her for her new night splints. (Braces that put her feet at 90, that she has to wear all night. We are alternating feet at the moment to slowly ease them onto Zoé’s feet). Medieval contraption is what I call them, but hopefully they'll help prevent more falls. We want to keep Zoé from getting too tight in her calves...

In the afternoon we saw Dr. Leigh at The Mind Institute, who gave us the new diagnoses for:
Mild Autism (regarding the social component, autism associated with Steinert with no intellectual impairment, but speech related) and ADHD (lack of focus in the classroom and hyperactivity at home).
She did give us some good strategies to help Zoé.
For the classroom:
We were asked to place Zoé right in front of Ms. E (Her teacher) , if possible, so that she can focus on what is being said.
Offer some breaks so Zoé can regroup if she starts losing focus, breaks that can be part of her daily routine.
Keep working on social communication (Lunch bunch and Communication Works)
She gave us a prescription for adaptive behavioral programs.
Giving Zoé a visual schedule so she can anticipate on class activities.
Making rules easy and clear.
Simplifying directions and breaking down tasks.

Dr. Leigh also wants the school psychologist to evaluate Zoé for possible learning disability (Related to the reading component)

At home we are now really working on scheduling her days with a visual schedule on a white board in her room.

We know that Zoé is somewhat over scheduled. It turns out Choir was not a good fit for her, it was too late in the day (from 4 to 5:30 pm) and they didn’t offer any help to include her in the program. It was also too rigid.

It was hurtful to be let down by a choir setting where no accommodations were provided for an all inclusive environment.
"There are too many interruptions on your daughter's part, she needs to go drink water, she needs  toilet breaks..." is what I was told.
Well, hello, she is 6 years old, with a neuromuscular disease, has ADHD and mild autism, and she is expected to sit there and politely wait for an hour before she can take a break....
It was really bittersweet, but in the end, I decided that if Zoé wasn't going to be accepted, so be it.
The funny thing is that it didn't phase her, nothing really does...That's the resilient side, the innate sense of not letting things get to you, or the autism...whatever.

Zoé really lacks stamina and over scheduling her will be detrimental in the end. So it is a matter of keeping that in mind and choosing activities that are comforting and soothing for her little body, and her black and blue knees.

I guess, this is it in a nutshell. Hopefully we can add these diagnoses to her IEP in order to discuss what strategies we can implement at school and in the classroom to help Zoé.

I should fill you in on what happened at the National Muscular Dystrophy Foundation meeting in Washington DC. It was truly amazing!
Unreal to see so many people with the same diagnosis, who understand where you are coming from, and also feeling empowered by the many advocates.
I was on a panel discussing the benefits of Horse Therapy for kids and adults who suffer from MMD-Type 1.
We went to the senate to give out awards to the many amazing doctors dedicated in finding a cure.
From Scotland to Rochester, from Stanford to MIT people are committed in researching and trying to find a cure for this devastating disease.
I met families that have suffered losses:"my wife got pneumonia and didn't have the muscles to cough, my nephew choked to death, my son is 35 and feels lost and out of touch.." and yet, it felt comforting to know that we were all in it together. It takes a village...
I felt elated and proud and on the flight back in was a huge-podge of emotions, the realization that , well, I have this disease, my Zoé is afflicted, it impacts David and that despite the odds we have to try our best to play with the cards we were dealt.

Award Ceremony at The Senate

Letter to advocate sent to the California Senators (Feinstein and Boxer)

Music Therapy.

Trying out instruments

Like my Shades?

The book about ME

Rainbow swing. Works muscles to go from one color to the next.

Proud Mama

Tuesday, September 2, 2014

"I am not a hero, I am not a martyr"

is what a friend of mine said as an answer to the numerous people who constantly ask "how do you do it?"
You know what?
You just do, and I couldn't agree more with her. We were not given a choice.
I am teary-eyed as I write this after watching excerpts of the Telethon celebrating life and heroes who live and struggle, heroes who are robbed of their own bodies.
Families with two children suffering Spinal Muscular Atrophy, 24-year olds with ALS, and other neuro muscular diseases.
Perhaps the ice-bucket challenge going viral on the internet will help raise awareness? maybe it will slowly disappear from social media and we will be left living as before, struggling and fighting, but also relishing in the small victories trying to accentuate the positive.
Just a point I thought I would bring up.

I cannot believe my last post dates back to June 24th, and school is already back in session.

I just interrupted this post writing as I realized I had about 5 medical bills to pay. They keep coming in and piling up on my desk.
Sigh... this is the part of special needs I don't like, or chronic illness, how ever you want to call it.
Paying bills, calling insurance providers, making sure payments were received, it is a full time job. Insurance claim forms are quite easy to fill in now that I know my insurance ID by heart...

So back to the fun part of this entry.
The summer in France was beautiful.
We enjoyed Sauve and its medieval atmosphere, the small cobble stoned alleys drenched in sun, the glorious walks along the river feeding ducks, the merry go-rounds, the tasty foods and the ice-cold rosé.
Brittany was, as usual, the fun of being with family and friends, celebrating mom's 70th birthday and sitting around the fire at night roasting marshmallows.

There were a few difficult moments, when cousins weren't inclusive, but I don't really want to dwell on that.
It is too painful.
It is our daily load, but Zoé is resilient and finds ways to compensate.
She played well with her two cousins in Sauve, and with Sam in Brittany.

We had to face a lot of stares, when people saw our "big girl" in a stroller. I wish I had a sign saying, "don't stare, I have a disability, or please ask, if you have questions..."
I should market these signs, they would go a long way.
Yes, indeed, Zoé needs a stroller and might need an adaptive chair in the future, because she cannot hold up stamina very long.

We managed to do a night tour of Sauve, where actors performed a medieval play, using clues and props. Zoé and her cousins LOVED it, it really was the highlight of the summer.
I strolled Zoé through the narrow and dark alleys, following the princess of Sauve and the knights trying to find the crowned jewel to free the prince.
When he came out in full armor on his white horse, Zoé couldn't believe her eyes. We got back home around midnight and mom and her friend Anne, came looking for us as they were worried about our weherabouts.

All in all, the summer was wonderful and now our big girl is in 1st grade. I cannot believe how fast time flies.

On the medical front, I am going to be part of an investigative study.
It will be a year-long study: the 1st one being the baseline visit, then the 3 month visit and the 12 month visit. The study entails a full day of testing from 8:00am to 5:00pm:
-blood draw for hematology and chemistry research
-DNA analysis
-bio-marker testing
-physical examination
-cognitive, health and quality of life tests
-bone density scan
-PT: 2 hours of muscle testing
-breathing test
-EMG: recording of electrical impulses measuring electrical signals and myotonia. (using fine needles)
and the final test
-Muscle biopsy, performing a 1/4 inch incision and collecting small bits of tissue.
They will also be calling me once a day for a month, to ask questions on daily life.
Stanford and Doctor Day's team will be conducting the study.
They need 20 people and so far we are 5. I do hope they can find more candidates...They need data to find a cure!

Voila dear readers, I will try to be more consistent in my posting.
Much love from Piedmont to y'all.


The knights and the damsel in distress

Les cousines


Giant 4 in a row

Les cousines dans le hamac

petting farm