Neuroworx Consult

This summer we're finally getting Bertrand out to Neuroworx, a local rehabilitation center that focuses on spinal/neurological physiotherapy.  For years we've heard nothing but good things about Neuroworx from Bertrand's friend Noah.  We're excited to see how Bertrand does with different equipment in a different environment.

At Neuroworx Bertrand is going to try the Lokomat.  "The Lokomat provides intensive locomotion therapy for the treatment of children with cerebral palsy or other neurological disorders."

Why introduce robotic locomotion therapy?
• Functional movement and sensory stimulation play an important role in the rehabilitation of neurological patients following stroke, spinal cord injury, traumatic brain injury, as well as in patients with multiple sclerosis, cerebral palsy or other neurological disorders.
• Administering intensive functional locomotion therapy with manual training requires sufficient staff, is labor intensive and allows only relatively short training sessions.
• Manually assisted gait therapy can be challenging, especially in obese patients or in patients who are spastic.
• Gait pattern and guidance force are individually adjustable to the patient’s needs to optimize the functional training
• Improved patient motivation through visualized performance feedback
• Assessment tools allow easy and reproducible measurements of the patient’s progress
• If needed – easily switch from automated to manual therapy

The brothers work out together.

Bertrand loves playing with this new ball from his German best friend! Meanwhile, baby Winston listens to the laughter and does some tummy time.  These are some hardworking brothers.  ;)

Upsee: First Impressions

Bertrand's expression here: "Whoa! I'm standing up!"

The Upsee is a "mobility device that lets children with motor impairment stand and walk with the help of an adult".  It is a brand new product that is all the rage in the special needs community--and for good reason!

We've had the Upsee for over a week, and I can't say enough good things about the product or the company.

As I see it, Firefly by Leckey, the maker of the Upsee, is the Apple of special needs products.  The marketing, branding, and packaging of the Upsee have all been top notch.  (The unboxing of the Upsee was glorious!)  More importantly, the product itself is of the highest quality, intuitive to use, and supremely effective.

At $489, the Upsee is by no means an inexpensive product but, compared to other special needs devices, it is a bargain!  (A wheelchair like Bertrand's will run $8,000, and other gait devices run upwards of $3,000.)

Bertrand has really enjoyed being in the Upsee, and is building up his endurance.  We plan on sending it to school with him daily so that his classmates may also benefit from using it.

Now I Can Session: July 2013

The folks at Now I Can just sent us the video of Bertrand's session last July. A month later, he was sitting up on his own. Way to go Mr. B!

Hygiene and Toileting System

Bertrand was fitted for a new hygiene and toiling system today.  We selected the brand new HTS by Rifton.  He'll be one of the first (if not the first) person in Utah with this model.  It is for toilet and shower use.  It should arrive in a month.  My spine will be very happy when it does.  :)

Creepster Crawler

Buddy is quickly tolerating and mastering his brand new Creepster Crawler. :)

Someone is upset that she isn't "lucky" enough to be in the Creepster Crawler. ;)

He was crawling all over the place for a motivating toy. 

Bertrand uses a spoon

New milestone: Bertrand uses a utensil!
While working with his occupational therapist, Miss V, Bertrand took about 20 spoonfuls of yogurt.

As you can see in the video, he held and guided the spoon under his own power!

It wasn't long ago when something like this seemed completely impossible.

We are proud of Bertrand for all the progress he has made in the past couple months!

Kindergarten Schedule

Bertrand has been doing amazingly well on his new full-day kindergarten schedule.  He is so happy!  Bertrand is in a "Life Skills" classroom so, while they cover some standard academic concepts like math and reading, there is a greater emphasis on "life skills" such as toileting, communication, gross and fine motor activities, etc.

Most days Bertrand does 7 hours of school, 3 hours of intensive physical therapy, and 1 hour of stander at home.  Since several people have asked, here is a overview of Bertrand's weekday schedule:

Monday through Thursday:
6:45 AM - Wake up, eye drops, breakfast, medications
7:00 AM - Wash face, scrub eye lids, brush teeth, eye ointment, clothes
7:30 AM - Bus pick-up
8:00 AM - Arrive at school
8:15 AM - Greeting, toileting, positioning
9:00 AM - Physical therapy, gross motor activities, eye drops
10:15 AM - Recess with student helpers
10:30 AM - Group activity*
11:00 AM - Lunch, clean-up, toileting, eye ointment
1:00 PM - Communication, cognition, fine motor activities, eye drops
1:50 PM - Recess with student helpers
2:00 PM - Additional programming*, toileting
(* These activities are frequently "mainstream" with the regular kindergarten class.)
3:00 PM - Notes, coats, salutations, eye drops
3:15 PM - Bus departs school
3:30 PM - Bus arrives, intensive physical therapy
3:45 PM - "sNAC" (applesauce with N-acetylcysteine)
5:00 PM - Toileting, eye ointment
6:30 PM - Dinner, medications, stander
7:30 PM - Remove from stander
8:00 PM - Bed, eye ointment, overnight diaper, bedtime story

Not long ago we would have thought that a schedule such as this would be too strenuous or tiring for Bertrand.  We are proud that our little fighter has proved us wrong.  Not only is he tolerating this schedule, he is *enjoying* it.  He is thriving!

On Fridays, after Bertrand finishes school at 1pm, he will play with Victoria, go for a walk with Mama, or nap for 2 hours, and then have a typical physical therapy session from 3:30 to 6:30, followed by an hour of stander time.  On the weekends, Bertrand has a couple 2 hour sessions of occupational therapy and a single 3 hour session of physical therapy--this is on top of spending time with family, friends, and going to fun activities with his best friend Victoria.  He is our busy B.  :)

Zoo Therapy

We took Bertrand's beloved Miss A to the zoo today, and that's where he did part of his physical therapy!  He practiced balance and sitting on many surfaces.  Both kids had a blast.  Buddy could've ridden the carousel 10 more times if we let him.  And Victoria is now convinced that all animals love to play in the water.  (On our walk later today she was chatting up random strangers about bears in water.  And, at bath time I had to stop her from dumping a bunch of beanie baby bears into the tub.)

Sadly, Victoria accidentally deleted several photos and videos off my phone as she was watching a clip of Bertrand and herself with the swimming polar bear.  While she had probably seen it close to 100 times, she was devastated to lose the video.  We'll just have to go back to the zoo and take more footage! And you'll just have to settle for this handful of photos.  :)

The zoo currently has an exhibit of Lego Animals all over the park.  (Miss A and I kept asking ourselves, "How long would it take to build that?!")  If you have a child who loves Legos, they would probably love to check it out.

Springtime Therapy

Hard Working Man

Buddy is one hardworking man.  :)

(Almost) Wordless Wednesday

Today was our beloved Miss A's last day.  We all cried.  We will miss her.  :'(

Balloon Fun

Bertrand has fun with a balloon during therapy.  There were many giggles.  :)  Thanks, Miss A!

IEP: 1st Goal Accomplished!

Every year, Bertrand has an individualized education plan (IEP) meeting before his birthday with the school district.  This year, several goals were modified, a few were added, and, for the very first time, one was accomplished.  Bertrand effectively and reliably can use switches.  To say "we are proud of him" is an understatement, but we'll say it anyway.  :)

Congratulations, Buddy!  

Mama and Daddy are so proud of you!

A Brag-Full Post

In the spirit of the season, this is a thankful brag-full post.  ;)  Bertrand has been on an amazing streak.  Yes, more amazing than usual, if that was even possible.  Our hearts are overflowing with gratitude.  We are also downright proud of our boy.

Bertrand is happier than ever.  He is making new vocalizations, clearly recognizing faces, and playing little games with us.  He is totally into peek-a-boo and tickle monster, even with Victoria.  He is tolerating her and other kids better than ever.  In fact, he showed more interest in baby cousin Gabrielle than Victoria did!

Bertrand is eating solid foods.  In July, after his tonsillectomy, he had an understandable set back, but now he is doing better than ever.  For the past week he has been eating (a finely chopped version) of what we've eaten every night!  And, we've engaged his teachers to work on him with more textures during snack time too.

Bertrand is on the cusp of sitting unaided.  This has been his oldest and first therapy goal, and he is closer than ever to accomplishing it!  We're videotaping every therapy session because we've convinced it will happen by December.  Just wait and see.


Bertrand is weight-bearing.  Today I found him calmly watching Elmo on his iPad--at the edge of his bed standing up!  He'd apparently been falling out of bed, but instead of falling he just stood!!! When I found him like that, just holding on to the bed standing, I was petrified!  I wanted to run for my camera but didn't want him to fall.  So, I just stood there, yelling for Matthew to bring the camera and crying praising B.  By the time a shocked Matt finally arrived (sans camera! grr!) to witness the greatness, B was tiring, so you'll just have to take our word on it.  He was amazing!

We've tweaked many little things over the past few months (supplements, seizure meds, diet, etc.), but hands down none of this would be possible without Bertrand's amazing therapists.  Miss A and Miss V are without a doubt the greatest contributors to Bertrand's recent progress... and our happiness.  So, to Miss A, Miss V, and everyone else helping with and cheering for B:

THANK YOU!

First Gene Therapy Approved!

We will be watching the 2013 commercial roll-out of Glybera very, very closely.

First Gene Therapy Approved by European Commission

Amsterdam, The Netherlands – November 2, 2012 – uniQure announced today it has received approval from the European Commission for the gene therapy Glybera® (alipogene tiparvovec), a treatment for patients with lipoprotein lipase deficiency (LPLD, also called familial hyperchylomicronemia) suffering from recurring acute pancreatitis. Patients with LPLD, a very rare, inherited disease, are unable to metabolize the fat particles carried in their blood, which leads to inflammation of the pancreas (pancreatitis), an extremely serious, painful, and potentially lethal condition. The approval makes Glybera the first gene therapy approved by regulatory authorities in the Western world.

“Glybera’s approval means LPLD patients, for the first time, have a medical treatment option for a very complex and severe disease,” said Professor John Kastelein of the Department of Vascular Medicine at the Academic Medical Center of the University of Amsterdam, the Netherlands. “LPLD leads to acute and recurrent pancreatitis attacks, and in many patients causes early onset diabetes and cardiovascular complications. This therapy will have a dramatic impact on the lives of these patients. Currently their only recourse is to severely restrict the amount of fat they consume. By helping to normalize the metabolism of fat, Glybera prevents inflammation of the pancreas thereby averting the associated pain and suffering and, if administered early enough, the associated co-morbidities.”

As part of the approval, patients will receive treatment with Glybera through dedicated centers of excellence and by specially trained doctors. uniQure will also build a patient registry to further improve the understanding of this devastating, under-researched disease and the effects of Glybera treatment. Marketing Authorisation covers all 27 European Union member states. uniQure is preparing to apply for regulatory approval in the US, Canada, and other markets.

“The final approval of Glybera from the EC marks a major step forward in making gene therapies available not only for LPLD but also for a large number of rare diseases with a very high unmet medical need,” says Jörn Aldag, CEO of uniQure. “The EC’s approval is an important validation of our innovative product platform and offers strong support for our other advanced development programs, which focus on acute intermittent porphyria, Sanfilippo B, hemophilia B and Parkinson’s disease.”

About Glybera®
uniQure has developed Glybera as a therapy for patients with the genetic disorder lipoprotein lipase deficiency, an orphan disease for which no treatment existed. The disease is caused by mutations in the LPL gene, resulting in highly decreased or absent activity of LPL enzyme in patients. This enzyme is needed in order to break down large fat-carrying particles that circulate in the blood after each meal. When such particles, called chylomicrons, accumulate in the blood, they may obstruct small blood vessels. Excess chylomicrons result in recurrent and severe acute inflammation of the pancreas, called pancreatitis, the most debilitating complication of LPLD. Glybera has orphan drug designation in the EU and US. LPL Deficiency affects 1-2 persons per million.

Glybera has been tested in three interventional clinical studies conducted in the Netherlands and in Canada, in which a total of 27 LPLD patients participated. In all three clinical trials, Glybera was well tolerated, with no relevant safety issues observed. Data from these clinical trials indicate that a single dose administration of Glybera resulted in a long-term biological activity of the LPL protein. For further information on LPLD visit www.lpldeficiency.com.

Lipoprotein lipase is a key ‘first step’ enzyme in the metabolism of lipoproteins following fat intake with diet. In clinical studies a transient reduction in triglycerides for up to 12 weeks in individual patients could be observed. Furthermore, Glybera allows expression of the LPL protein in injected muscle which is reflected by the improvement of postprandial chylomicron (CM) metabolism observed in a small subset of patients. Glybera (alipogene tiparvovec) contains the human lipoprotein lipase (LPL) gene variant LPLS447X in a vector. The vector comprises a protein shell derived from adeno-associated virus serotype 1 (AAV1), the promoter, a posttranscriptional regulatory element and AAV2 derived inverted terminal repeats.

Glybera is indicated for adult patients diagnosed with familial lipoprotein lipase deficiency (LPLD) and suffering from severe or multiple pancreatitis attacks despite dietary fat restrictions. The diagnosis of LPLD has to be confirmed by genetic testing. The indication is restricted to patients with detectable levels of LPL protein.

The most commonly reported adverse reaction is pain in extremity occurring in approximately one third of patients. Given the small patient population and size of the cohorts, observed adverse reactions do not provide a complete perspective on the nature and frequency of these events.

About uniQure
uniQure is a world leader in the development of human gene based therapies. uniQure product pipeline of gene therapy products in development comprise hemophilia B, acute intermittent porphyria, Parkinson’s disease and SanfilippoB. Using adeno-associated viral (AAV) derived vectors as the delivery vehicle of choice for therapeutic genes, the company has been able to design and validate probably the world’s first stable and scalable AAV manufacturing platform. This proprietary platform can be applied to a large number of rare (orphan) diseases caused by one faulty gene and allows uniQure to pursue its strategy of focusing on this sector of the industry. uniQure's largest shareholders are Forbion Capital Partners and Gilde Healthcare, two of the leading life sciences venture capital firms in the Netherlands. Further information can be found at www.uniqure.com.

Now I Can Session: August 2012

The folks at Now I Can just sent us the video of Bertrand's session last August.  It's amazing to see what progress he has made since then.  He is a champ!

October Progress

Bertrand
We had a parent-teacher conference in preparation for Bertrand's December IEP meeting.  Bertrand is doing well in school, and making good progress toward his IEP goals.  Given his progress at school and at home, we broached the topic of increasing physical and occupational therapy efforts at school.

Victoria
At Victoria's 18 month well-child check we learned that she continues to grow and exceed developmental expectations.  Our once teeny peanut is now 43rd percentile in both weight and height, and a ridiculous 75th percentile head circumference.  Clearly, she eats enough.  :)

Session 4 Week 2

Bertrand has been happy and alert most of each session.
Of course he made a face while I took this picture.

Bertrand has completed his second week of this latest session at Now I Can.  He has worked so darn hard. In spite of the two major set-backs this Summer, he has already caught up to where he was at the end of the prior session last Spring.  We're optimistic that he'll make more progress going into the next and final week.

We're also very excited that Bertrand's home physical therapist is back from her summer internship!  With Miss A, he'll recommence his intensive work at home. We expect that she'll build on his progress here too.

Speaking of progress, as school starts this fall semester, we've re-evaluated our activities.  I We had gotten spread thin, and our commitments weren't optimally aligned with our priorities as a family.  We've made some adjustments to our schedule.  Hopefully, this will help everyone feel happier and more fulfilled.

Parenting/Life is a balancing act!

Session 4 Week 1

Bertrand completed the first week of intensive therapy for his 4th session at Now I Can.  Bertrand has made improvements every day but it was tough for him... and me. Victoria is a little ball of energy--not the sleepy, easygoing newborn she once was.

Victoria gets jealous of the attention the therapists (and mama) give to Bertrand.  We should all play with HER.  A few weeks ago she knew over 60 different signs (I've since lost count), and oh boy does she use them... especially to argue with me.  That didn't take long.  :-P


This summer has been brutal. Bertrand, Victoria and I are ready for school to start and for our beloved student therapists to start back up. I'll feel better once I know that both kids will have special one-on-one time.