Well, Hello Blog!

Wow, I cannot believe how long it has taken me to come back to you, dear blog, dear followers. I think I felt like taking a short break. Too much has been going on. I cannot even remember what I am supposed to fill you in on...
Let's see....where was I...

Well, first thing first, the Natural History Study I am taking part in took place three weeks ago. It was phase one, with blood draw, testing hands, feet, walking, cognitive aptitude on a computer, electric signal from needle in muscles, breathing test, EKG, EMG, Dexa Scan, etc.
I was at Stanford a total of 8 hours and felt exhausted by the time I got home.
The biggest item on the list of procedures was my first muscle biopsy, which was actually quite nothing, as I expected fear and pain. On a scale of 1 to 10, ok maybe 2...
Looking at the 4 pieces of muscle collected, I pondered and thought to myself: "Maybe they will shine a light on the mystery behind this disease, maybe they will enable scientists to perform their magic.."

I left feeling both elated and empty, elated for the progress of science and empty after 8 hours of being studied, prodded, and observed down to my hand clenched on a table being filmed opening up, in an image that felt like slow motion, but that actually was not.
We'll see what comes of it later on when the results are found. In the meantime my blood was fedexed to Rochester, NY to be analyzed.
One thing I didn't realize was that the number of repeats in your cells that are affected by MMD do augment with time. This was a bit of a blow, but as Dr. Day says:"Don't look at the numbers! They are just a piece of the puzzle". I will try to keep his advice in mind.

So this was the baseline visit, the next one with another biopsy is in January and the final one in the fall next year.

As far as Zoé is concerned, we went to our much anticipated cranio-facial and plastic surgery clinic for the mouth and were given some ideas to hold that mouth shut with a chin cup, and orthodontia.
We'll take it one step at a time.
First thing on the list, we are scheduled for a sleep study on January 9th and we'll see if she has sleep apnea or not.  A lot of kids affected with MMD do have sleep apnea. I don't, I sleep like a log, Zoé on the other hand wakes up quite a bit at night.
Then, a nasaloscopy, a small needle the size of a drinking straw with a camera to see if everything is open in the nose, and then we'll consider a night guard in the mouth to prevent the teeth form growing and growing...I came out of that clicnic quite beat down. It seems that we are not given a breather, come on, when it is going to stop?

I am nervous about the whole outcome and then Zoé has got a pretty bad cough right now, and she doesn't have the strength in her lungs to cough it up.
My poor baby cakes. She is such a trooper, I mean this kid is going through the wringer, and yet, she is happy as a clam, and the light of my life. When things are cloudy and scary, I look at her and feel like she lifts it all away.

Well, we did have some fun and sunnier days in the last month with Halloween and Day of the Dead celebration, with trick or treating culminating in pumpkin patches. we've been having fun.
So long, dear readers, keep tunimg in for more news to come.

Officer Berman

Our Sparkly toothed pumpkin

Happy Day of the Dead!

Kumon here I come.

Catching some ZZZ in the car on the way to Stanford Hospital.

On top of the world, on top of Ozzie, the horse.

Happy Halloween!

Speech 101--Lost in Translation

Translation of French document for the speech pathologist at school.
As you know everything is linked regarding the face: swallowing, speech, jaw, lips, cheek, tongue, palate, etc.
They mention to start with labial work, alternating maximum stretching of the lips for 5 minutes and then rounding of the lips for another 5 minutes (I think they mention adults…not sure Zoé can do that for 5 minutes!)
The warm up phase is really important.

For this type of work, they ask that speech therapists enable the patient to have breaks, because they might get really tired.  Zoé could never work her mouth and lips for 5 minutes in a row...
It will be hard to add tone to Zoé’s face to avoid the nasal sound, but by making those muscles work, we might be able to augment Zoé’s articulation and precision when talking.

Cold and fatigue increase the myotonia (release of the muscles) therefore it is good to start with warm up session, repetitious movements and heat can alleviate the myotonia.  In Utah, the speech therapist used a mouth guard and Zoé had to grab it with her lips, not her teeth and the provider would pull on it to strengthen the mouth, lip closure, etc.
Maybe we should also implement cues for Zoé to know when to shut her mouth, 2 fingers on the lips: to know it is a bilabial sound, teeth on upper lip for: TH, F sounds,etc..

In the past, we worked on putting a cheerio between her lips that she had to hold there for a few seconds, sucking whipped cream off her finger, closing the mouth tight.
Blowing pieces of tissue off a table, or feathers, blowing through a straw on cotton balls, and racing, playing the kazoo (Maybe too distracting for other students), I have her blow on liquid ink through a straw to make fun patterns and designs (adding a goggly eye to the pattern to make a monster).
These are just ideas, of course the document really went into scientific data that I don’t think would be useful at this point.

On November 5th, Zoé is going to a cranio-facial clinic appointment at Lucille Packard’s Children Hospital to assess her mouth and facial configuration. She will see a speech pathologist, a dentist, orthodontist, oral and maxillofacial surgeon, otolaryngologist, and the list goes on. I will definitely let you know what comes out of it.

Happy Halloween!!!

Homemade Day of the Dead skulls

class scarecrow witch

Peekaboo

Blondie and Halloween the dogs at the Pumpkin Patch

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

"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.

Brasero

The knights and the damsel in distress

Les cousines

Acro-branches

Giant 4 in a row

Les cousines dans le hamac

petting farm

Thank you Dear Ginny. Letter from a wonderful family friend that brought tears to my eyes.

Sarah DEAR

I am very pleased you sent me a reminder to visit your Blog site. I tried to write a comment, but I don't think it worked, so I'm sending you my comment via email, so I'm sure that you will read it one day!

I don't know who is the biggest "Trooper" in your family : Zoé or YOU!!! You both are extremely incredible people, and I admire you both beyond words!

You are an example to others, you shine like a lighthouse to give hope to others that they can somehow find themselves in a better place! You and Zoé are incredible fighters, you don't give up, you are very positive and you only "sigh" when things are difficult--- You don't "cry", you just "sigh"!!!

I wrote all this, in different words, and then the blog comment disappeared, so I'm re-doing what I wrote on the site, but here, on an email, for your eyes only, or if you want, you can publish this on your site.

What I really want you to know is that You are incredible, you don't shirk work, you are very motivated, and it is surely a very hard road to walk due to the amount of work, effort and stress entailed in helping Zoé to be the "best she can be", and "grow the best way she can".

YOU are a WONDERFUL MOM, and you deserve the very best yourself !!!

I hope the heart-monitor (holter) gave helpful information to the doctors, and that you will soon be getting the help you need for yourself. As you said in your blog, your illness is a sneaky, dangerous thing, and I'm glad the doctors could diagnose something to explain your state of great fatigue. Now I hope they can also suggest a way for you to get back some of your own energy....

You and Zoé are in our hearts! You may sometimes feel that people are not "present" for you, but if there is anything at all we can do to "lighten your load" all you need to do is ask.  We think about you very often, we talk about you very often too, so if there is anything at all we could do, just give a whistle...

I'll close now by saying "Bravo" for all you have done, and for all you do, and for all you will continue to do for your Zoé. She is a wonderful child, and this is in great part because she has a really wonderful mom!!!!

Take care, dear Sarah. We are very much looking forward to seeing you here this summer. Our house is ALWAYS open, just come on over, and if we have time before you leave for Soave, we can even organise a "play date" for Zoé and Anna's kids! Here in St Renan, there is a "cabin" of bamboo branches, and a swing set, so if you want to come over, it's like a mini play area for kids!
All my love,
Ginny

Blankness

I don't know where to start.

Counting the days till we touch the tarmac on French soil. France where Zoé can just relish the quietness of summer days, the glorious beaches of Brittany, the small cobblestones streets of Sauve in the South of France and just enjoy some respite from therapies.

Our spring has been one hell of a roller-coaster...

We saw the orthopedist surgeon at Shriners who decided that no surgery would be needed for Zoé, but that definitely braces would have to be worn everyday.

Gone are the sparkly ballet flats I can picture on Zoé. That will never happen. (Sigh)
Oh well, it's ok, let's move on.
The surgeon said that as Zoé's calf muscles are tight she now tends to walk on tippy toes.
If he cuts the achilles tendon, then she will have to use her leg muscles in a way that will compromise good posture and gait and Zoé will then have to wear braces for ever.

The second appointment was the neurology clinic at Stanford with Dr. Day and his team. I was proud of myself for  I decided that I did not want to see the Speech pathologist, nor the OT or PT. I am an expert at what Zoé's challenges are, I don't want to be charged an arm and a leg to have people ask me what we do and simply telling me to continue.

So neurology came and went and then not much more was brought to the table. There is no cure, no treatment.
It hurts.
The constant reminder of the fact that our disease is an incurable one, and that the slow degeneration keeps creeping in on us. Me, actually more than on Zoé as she is still growing normally. I dread to think about the future...

My lack of stamina has been increasing drastically. My general practitioner was dumbfounded when he saw that my blood pressure was 72 over 40, he was surprised I had not fainted yet.

So I decided to go see my cardiologist who prescribed a holter monitor for 14 days to monitor my heart rate. He mentioned the possibility of a pacemaker and that's when I hit the wall, when I had not choice but to face the demon. Everyday is a struggle to get out of bed and to muster the energy to care for Zoé.
I keep chugging along, going on walks, going to the gym, the pool, pilates, acupuncture just to keep that body moving.
I am actually going for my electrocardiogram this afternoon.
The title of this post says it all...

The Mind Institute in Sacramento is the temple of ADHD. We suspect Zoé to suffer from it. What else is new? When will it end? 30% of kids with Myotonic Muscular Dystrophy are on the autism spectrum and have ADHD.
Sigh...

The highlight of this roller coaster was our trip to Salt Lake City, where we were greeted by an amazing team of doctors, caregivers, and nurses. It was surreal to see how dedicated and caring these people are. Zoé is a trooper for she grabs anything that is thrown at her: speech analysis, occupational therapists, physical tests, Dexa scans, and shots (blood draw). We stayed in a hotel and enjoyed our room and king size bed for naps and microwave pizza for dinner. I could have used a glass of wine or two, but I got Zoé to decide what she wanted to do. The flight there and back was great. I left feeling elated by the fact that in some minute way, we have added data to a possible cure one day.
Another little 8-year-old girl also participated in the study and was a striking reminder of how this demon affects kids. It helped me put my life into perspective and to realize how lucky we are that Zoé is doing amazingly well.

So that was our spring.
Now Zoé is at camp from 9:00 to 1:00pm everyday. Learning about bugs, their reproduction, habitat, doing art projects and reading books.

Zoé performed really well in her horse show in late May and will continue to ride King David.

W e have started Kumon, a reading and math program. Zoé has to do 30 minutes of HW everyday. I am really happy with it as it provides structure and discipline. Zoé doesn't really mind doing her HW everyday, and we are starting to see slight progress.

Swim lessons everyday are added to the summer regimen.

On a last note, I have to admit that I was amazed at the research program in Utah. I had to fill about 10 lengthy questionnaires on quality of life, etc. And then they questioned Zoé.
Here are a few questions they asked our 6-year-old darling for you to ponder and reflect upon.
"Zoé do you feel different from other kids?"
"Can you play tag with friends?"
"Do you find it difficult to make friends?"
"Do you think you look different from other kids?"
"Does it make you sad?"
"Is it hard to listen to your teacher and sit still?"
"Is physical education difficult?" etc.
and for each question they offered Zoé a choice so she could decide whether it
is was a  big problem or a little problem.

It was both heartbreaking and enlightening to hear what Zoé had to say about her quality of life.
Sigh.

The Dexa Scan

The Dream Team at Salt Lake City Hopsital

Tami, my favorite nurse

King David

Buddies at Shriners Hospital

Enjoying the King Size bed

Utah here we come! (Airplane)

Zoé's self-portrait

Embrace life

Well it has been a couple of weeks since I last wrote and a few new items are in the works.

Zoé continues to thrive at school and in her daily activities despite the challenges of fine motor skills that impact writing.  I know, she is only in kindergarten, but holding a pen is essential.  It impacts her abilities to write, color and draw. I am not pushing her though.  Hopefully she will continue to make progress.

Reading is also challenging. Dragging letters and sounding words is difficult. Because her articulation is impacted, perhaps she cannot produce those sounds.

I am trying to focus on articulation. Also asking Zoé to keep her mouth closed when she eats. All these small minute details of daily living that we take for granted. I never thought I would have to teach my child to keep her mouth closed, to repeat: M, B, P sounds to help the bilabial speech. These consonants are so hard for Zoé.

As the school year draws to a close, we are looking at camps. Funny enough other moms are talking about academic camps, math camps, athletic camps. We have no choice as Zoé must attend the 4-week long school camp during which she will get all her services: OT, PT and speech.

The new amazing activity we have going is adaptive swimming. Zoé's APE ( Adaptive Physical Education) teacher also coaches swimming and I asked him whether he would consider teaching Zoé. It is awesome. We are in the water every Monday afternoon.  Zoé is like a fish in water. He is amazed at how comfortable she is.  Going down deep to retrieve toys, blowing bubbles, finning her way across the pool to the deep end.

I have now realized, and well as one says,  "live and learn" that Zoé performs MUCH BETTER when I am not around. And this is across the board: during OT with Liz, choir practice, swimming class, therapeutic riding, etc. otherwise she seeks my attention and doesn't focus as much.

The last couple of months have been quite busy and I should fill you in.
- We went sledding in Tahoe.  Zoé's first time seeing snow...
- We rented a house in Monterey for a girls get away, with Zoé's BFFs.  Enjoyed biking, the beach     and seal watching.
- The farmers market is now part of the routine as summer fruits and fresh corn are on display.
- New braces are in after our Shriners run.

The big news is our next trip to Salt Lake City. Zoé and I are flying on June 3rd and back June 6th. We'll be lodged at the hotel on campus.  She is being seen by a team of researchers at the Universisty of Utah.  They are conducting a study on children affected with Congenital Myotonic Dystrophy.
Zoé will receive a variety of medical tests and assessments including a physical exam, vital signs, blood draw, DEXA scan to measure bone density and lean body muscle mass, an ECG, Physical therapy assessments, speech and neuropsychological assessments, and a variety of questionnaires regarding quality of life. The clinic day should take approximately 5 hours each day.
Maybe we will have time to visit Salt Lake and I can take Zoé to the Mormon Tabernacle...I've already been there once but walking around the grounds is quite nice.

As far as entertainment goes, Zoé's horse show is coming up, on May 31st, and before that Zoé is going on a field-trip with her school. This weekend she is also performing in her play (Charlie and the Chocolate Factory), she is an oompa-loompa!  So fun days ahead.

Frozen

Girls are sledding away

Doc Mcstuffin is at Shriners Hospital

Piedmont Town Hall

Casting the footsies

Maman has long legs

Voilà dear Blog readers, these are our latest news.
We hope this finds you all well and enjoying the first few days of spring.
Will update you on the trip to Utah and Horse mania when we get back.
Love from our side of the blog to yours.