Thursday, November 21, 2013

Stanford, Pilates, IEP

Well once again caught by time, frantically trying to find a few minutes to write and update you on the latest from our side.

Zoé's bi-annual appointment at Shriners went well.  We will be going back in January to fit her with a new pair of SMOs and for her annual Body Motion Analysis.  We did one last year as a baseline and we want to see whether she has improved her gait and balance.
It seems that when she doesn't wear the SMOs she tends to walk on tipi-toes.

Today is the dreaded IEP meeting, where the panel of educators will decide what services Zoé will get. They have reduced PT to once a week, OT to 30 minutes a week and two "push in"sessions  into the classroom twice a month, and finally speech to 3 times a week.

I have been thinking about the notion of "early intervention", and how important it is for children to have interventions at an early age.  Zoé's body is in full growth and this is the time you want to help her gain strength, stamina, and enable her to reach her full potential.  It is not when she is 15 that we can start helping her.

Zoé and Jack, the therapeutic dog.
So the IEP is our chance to advocate for Zoé, to show her teachers how she needs those services. Socially, we also need to enable the communication.  Zoé tends to show aloofness and detachment when it comes to parties, bigger group settings.
Social pragmatics are important to establish, knowing how to interact with peers, how to read facial cues and body language.
You can say words clearly and use long, complex sentences with correct grammar, but still have a communication problem.  In her case, Zoé needs to master the rules for social language.
She is actually much better with adults.  I guess her peers gawk at her open mouth and her glasses and don't interact as much.  Don't get me wrong she has made two really good friends at school and that is somewhat of a first for Zoé.

As for me, I had a my first "real" neuromuscular clinic at Stanford with Dr. Day, my God!  It was a bitter sweet clinic as I got to face my limitations, but I also got to see that I am in very good hands. The nurse who did the intake checked all my muscles:  hand and calf atrophies were noticed, feet are really weak, speech is sometimes slurred, trouble swallowing, we discussed all the issues.  As for daytime sleepiness and fatigue, that is common in people with MMD-Type 1 (Steinert) and Dr. Day suspects narcolepsy.

narcolepsy |ˈnärkəˌlepsē|
noun Medicinea condition characterized by an extreme tendency to fall asleep whenever in relaxing surroundings.
He asked me if I had a tendency to fall asleep in calm surroundings and laughed when I told him that I had slept though the movie "Lincoln"... It happened once or twice that I had to pull over, off the freeway and sleep in a parking lot for just 20 minutes to be able to finish the trip home.So I am going to see a sleep study specialist at Stanford. Dr. Mignon (A French doc, well with a name like that, he has to be French). Mignon means cute!
We discussed consideration to donate to the Stanford Myotonic Dystrophy Biobank.  The biobank will collect  and store samples such as blood, muscle, skin biopsies, spinal fluid, and other clinical specimens to share with other scientists who require those for research. Hey, of course, I will donate anything if that means that I can help advance research. Clinical trials are around the corner, and I hope I can be selected to try new drugs or placebos if they can help new research studies and discoveries..I signed all the necessary paperwork and I am now eagerly waiting for the recruiting to start (early 2014).The benefits of enrolling are that specific neurological disorders, such as MMD and other muscular dystrophies are rare, and researchers can have significant difficulty procuring samples needed for investigations.  By donating to the biobank, we can help researchers make new scientific discoveries that will ultimately help individuals affected by the same condition as me and Zoé.
Beach Love
On the Pilates front, I feel that I am slowly gaining strentgth.  Dr. Day did say that I would never regain muscle mass, but that I should stay as fit and active as I am today.  So Pilates is my new motto. With my personal trainer, Emily, we target small muscle groups that one doesn't always use to strengthen my body, and to send the message to the brain to use those muscles, especially those that fire the core.

On the more personal front I have been reading a lot, and my new bible is the book by Andrew Solomon Far from the Tree, a truly amazing and inspiring book. I have covered the chapter on disability, and I must say, it was an eye opener. Some of it is really heavy and is not for the faint of heart, but parenting a child with special needs is not for the faint of heart either! We have children who haven't fallen near the tree but in far away orchards!

I am now also reading The Reason I jump ( the inner voice of a 13-year-old boy with Autism) by Noaki Higashida for the book club I plan to attend on Dec 3rd, a book club organized by Praise, the group of parents who have children with special needs at Zoé's school. My first book club!

Voila dear readers, that's it for now.
I wish you all a wonderful Thanksgiving. We have so much to be grateful  for.
Love from this side of the blog to yours.