August 31, 2012

"Stay classy, San Diego."

We had a morning free before we left San Diego.  We took a driving tour of the city and took the kids to the beach.  It was Victoria's first time at the beach (she LOVED it) and Bertrand's first time touching the Pacific (achievement unlocked).

We then enjoyed the San Diego airport for over 4 hours, courtesy of hurricane Isaac.

Skyclubbin'.  (Photo for Suresh and Dave.)

August 30, 2012

Freeze Lab Photos

The whole team.

Dr. Freeze explains Bertrand's cellular assay to him.

Dr. Ping He and Bobby Ng, both working on Bertrand's cells.

The wall of patients.

(All photos taken by Sam Reed, courtesy of the Sanford-Burnham Medical Research Institute.)

August 29, 2012

Dr. Freeze & Lab Meeting

We visited the Freeze lab at Sanford-Burnham today. We were amazed at the progress Dr. Freeze, Dr. Ping He, and the rest of the team have made in 2 months.

To give a brief overview (I'm posting from my phone), the team has tested a variety of treatment compounds, identified endoplasmic reticulum (ER) stress in Bertrand's cells, and have mapped-out a path to further understand the mechanisms at play in N-glycanase deficiency and potential avenues for mitigation/treatment.

As you can see above, we all had a fantastic time meeting with Dr. Freeze, and we learned a lot.

As mentioned yesterday, thanks to a doctor at Yale, not one but TWO additional cases of N-glycanase deficiency have been identified! This discovery firmly establishes causality for Bertrand's condition.

This is huge.

It means that Duke got it right --the exome sequencing done by Duke successfully identified a new condition. And, on a more personal level, it gives us safe options with which to expand our family.

We're very excited to see the science moving forward.

August 28, 2012

2nd case of N-glycanase deficiency confirmed!

Details to follow (once we visit the lab) tomorrow.

August 27, 2012

Sanford-Burnham Medical Research Institute

We're headed to Sanford-Burnham Medical Research Institute (SBMRI) this week. SBMRI is where a team, headed by Dr. Hudson Freeze, has been working to understand Bertrand's genetic disorder and find a treatment. We're excited to hear details on the progress they have made in helping Bertrand and other children like him!

August 17, 2012

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!

August 16, 2012


Anyone who knows Victoria knows that she is obsessed with "Gees!" (More commonly referred to as "doggies".)

Tonight, as I scooped her out of the bath, I caught myself whistling an eerie, familiar tune.  It was, without fail, the opening theme music to "Lassie"(1954!!!).

Upon finding the episodes on Netflix, I was shocked.  I can't remember half the stuff on a grocery list that's directly in front of me, but I can remember the full theme song (and corresponding credits narration!) to a show I last watched as a child 30 years ago?!

The human mind is amazing.

Any way, as I brushed and detangled Victoria's tiny, curly mane, she watched Lassie with the same intensity I probably did as a child.  You see, I love(d) "gees" too.  I had to smile.  I bet she'll be whistling the theme song to Lassie someday.

Thanks, Netflix.  :)

August 13, 2012

Mind the gap.

Each session of Now I Can (intensive therapy) brings out changes in Bertrand. Only starting the second week of therapy, we've been seeing a BIG change: Bertrand is falling out of bed.

I promise you, we are not being neglectful. In the past 4 years that Bertrand has slept in a big boy bed, we've NEVER had this problem.

In fact, the first few times he did it last week, we thought it was accidental. We felt awful. (Luckily, its only a 2 foot drop and he didn't cry.)

We've kept erecting larger and heavier barriers at the foot of the bed. Then, last night, he made it out though this gap. And, via video monitor, proceeded to try to escape through it again!

The BIG change/issue is that Bertrand is actively trying to get out of bed--and succeeding!

On one hand, it is fantastic that he is strong enough and dexterous enough and willful enough to make it out. On the other hand, it is dangerous for him.

We've debated just putting his mattress on the floor, but that would be killer on our backs and my flimsy knee. Does this mean a hospital type bed/crib is in our future? :(

In typical fashion, I've held off on decisions for supposedly temporary measures (like this bed and the wheelchair) because such measures have the tendency of actually being permanent. I'm not ready for Bertrand to lose his kid's bed because, in the back of my mind, I still hope he has a chance for some semblance of a typical kid's life.

Well, regardless of whether I am ready for it or not, Bertrand may be ready. We'll have to start looking at bed options. Any suggestions? I can always keep telling myself it's just temporary.

Who can stay sad looking at a silly face like this?  :)

August 10, 2012

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.

August 7, 2012

Session 4 Day 2

Bertrand with his teeniest and cutest physical therapist.
We survived the first full day of therapy at Now I Can today.  We were lucky that daddy was able to go with us, and that Victoria got sick only once on the car ride down.  (Of course, she got sick just as we were pulling into the Now I Can parking lot, and just on the car carpet rather than her surrounding layers of bibs and absorbent pads.  Sigh.)  We're all exhausted.  Only 2.5 weeks left to go.  This summer has been crazy.

August 6, 2012

Another Session Begins

Today, Bertrand began another 3 week session at Now I Can.  He'd lost a bit of ground after his surgery, but luckily he didn't lose as much as we thought.  He is pumped and ready to work hard!

In other news, Victoria apparently inherited car sickness on an epic scale.  She vomited 5 times on the hour long drive down to Provo and (just) once on the way back.  The next three weeks will be "fun".

Climb into bed with Bertrand.Joint Elmo trance.

August 2, 2012

Fine Arts Camp for Children with Special Needs

Creating Worthwhile Human Beings – One Artist at a Time

Celebrate Your Artistic Capabilities
August 6-10, 2012

Announcing Tanner Dance Program’s
New Summer Fine Arts Camp for
Children & Adults with Special Needs

With the success of our Dancers with Disabilities program, Tanner Dance is excited to offer more artistic opportunities for students with special needs. Our unique fine arts half-day camps for children and adults will include dance, music, theatre, visual arts, and literature. With our positive approach and engaging philosophy, this experience will be different from any other. Discover and celebrate your artistic capabilities!
Disabilities Camps August 6-10
The arts of dance, music, visual art, drama, literature, and creative writing are natural disciplines that help children grow through experience and find joyful ways to express themselves. During this unique fine arts half-day summer camp, participants will have hands-on experiences in at least three art forms each day in this delightful week-long camp. With our positive approach and engaging philosophy, this experience will be different from any other. Discover and celebrate your artistic capabilities!
Disabilities Camp, 5-10 yrs.
9:15 a.m.-12:15 p.m.
Disabilities Camp, 11-18 yrs.
1:15-4:15 p.m.

It isn’t too late to register for this exciting camp experience.  A limited number of partial scholarships are available.  Please call the office at 801.581.7374 or register online.

Please share this camp information with anyone who may be interested.