September 19, 2013

Dr. Freeze* wins Golden Goose Award!

A guy named Freeze works in hot springs…but the story is much better than that!

Most people go to Yellowstone National Park to explore the outdoors and admire nature. But in 1966 two scientists named Freeze and Brock went on different mission, not knowing that their journey would transform human medicine. Now, 47 years later, they receive the prestigious Golden Goose Award.
In 1966 Thomas Brock, Ph.D., of Indiana University, and his then-undergraduate research assistant Hudson Freeze, Ph.D., visited Yellowstone National Park because they were curious to find out how organisms survived in extreme conditions such as the park’s famed hot springs and geysers. The enzymes produced by one of the bacteria they collected to study – which they named Thermus aquaticus – enabled scientists to employ the high heat necessary for the replication and study of its DNA. Once they were able to study and use DNA in this manner, scientists essentially created the field of biotechnology, which then made possible the genomics revolution. These developments have led to extraordinary medical advances in recent decades and promise many more.
On September 19 at an event in Washington, D.C., the two will receive a Golden Goose Award for this work. The Golden Goose Award is a new award that highlights the often unexpected or serendipitous nature of basic scientific research by honoring federally funded researchers whose work may once have been viewed as unusual, odd, or obscure but which has produced important discoveries that have benefitted society in significant ways. The Golden Goose Award alludes to the fable of the goose that laid golden eggs. Its sponsors view America’s federally funded research enterprise as an extremely valuable goose whose golden eggs are the innovations and discoveries born from basic research that transform lives and fuel the economy.
The Brock and Freeze discovery has led to the ability to amplify copies of DNA through a method called polymerase chain reaction (PCR). PCR is now used to perform accurate genetic tests for a variety of diseases, to perform forensic science tests that analyze crime scene evidence, and catalyzed the efforts to sequence the human genome. Today, Hudson Freeze is a professor and director of the Genetic Disease Program of the Sanford Children’s Health Research Center at Sanford-Burnham Medical Research Institute.
Who would have thought that all this started by two guys with a federal grant and a trip to the hot springs in Yellowstone National Park!
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* Dr. Hudson Freeze is the top glycobiologist being funded by the Bertrand Might Research Fund to better understand and find treatments for N-glycanase deficiency.  Great job, Hud!

September 11, 2013

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.  :)

September 10, 2013

Salt Lake Comic Con 2013


On September 7th we took the kids to Salt Lake's first ever Comic Con.  We dressed for the occasion, thereby establishing the kids' nerd cred early (as if there would ever be any doubt).  Victoria reprised her role as Princess Leia. Bertrand started off as Mr. Spock but, after Victoria stole/lost one of his ears, he ended up as an ensign from the USS Enterprise.  Matt represented for Battlestar Galactica, Aury for the Whovians, and Cristina for mama honeybadgers everywhere. Bertrand probably enjoyed himself the most out of everyone!  With 80,000 people attending on Saturday, the rest of us suffered from a bit of sensory overload.  We made it just over 2 hours before returning home and EVERYONE taking naps.  All in all, a great day, and we're already looking forward to next year.  :)








September 8, 2013

Sitting Proof


We have been trying to catch Bertrand's new sitting skill on video for weeks now.  Each time we pull out the camera, he stops.  Every time we put the camera away, he sits.  His therapist Miss C finally caught it on video for us--as Bertrand was complaining about the slow service on his dinner. It's amazing that he can even sit up when angry at the waitstaff (read: me)!

September 5, 2013

Mr. Kindergarten

Kindergarten clearly agrees with Bertrand.

For 2 weeks, Bertrand has been pushing himself up to sitting position unaided at least once a day.

Over that same period of time, he has also been eating a big school lunch!  He is consuming a variety of foods and textures that he would balk at with us at home.  

And now today's note from school says that Bertrand urinated on the potty for the first time ever!  Yay!

Kindergarten is proving to be a great year for our little man.  :)

"He urinated on the potty chair.  :) "

September 1, 2013

The Return of the Nana


Bertrand and Victoria are overjoyed to have their Nana back!