June 24, 2012

Silly Picture

Makes me giggle every time.  :)

June 23, 2012

First Baseball Game

Bertrand and Victoria attended their very first baseball game courtesy of the Angel's Hands Foundation.  The mission of AHF is to "Improve the quality of life for individuals living with rare diseases." As you can see below, a great time was had by all--and especially by Bertrand! Mission accomplished.  :)

June 16, 2012

Sage Elizabeth Hudson (2007 - 2012)

Sage's rose is an Aimee Vibert.
It will grow up to 15' tall with spectacular white blooms.

Bertrand, Victoria and I attended darling Sage's "Celebration of Life". 
It was beautiful. 
But, I had a hard time after the service. 

I planted Sage's rose bush.
It was hard to find a spot.

Too many roses.  Each a child lost.

I did find a spot--a great one.  I always do.

It probably sounds crazy or silly or odd, 
but it's my way of remembering, loving, and caring for each child 
when they've gone.

I didn't get a chance to hug you, but I love you, Sage.
You are missed.


In the early hours of May 15, 2012, Sage Elizabeth "Chicken Butt" Hudson donned her well-earned angel wings and began her next adventure with a proud smile on her face and the wind in her hair. Sage was born on January 13, 2007 to Mark and Candace Hudson in Salt Lake City, Utah, and for five short years, she lived life to its fullest, despite the many challenges of Joubert Syndrome. With limited mobility, lack of verbal communication, and minimal vision, she was able to scoot and laugh her way into the hearts of many with a raised eyebrow and without ever saying a word. 
Always in perpetual motion, Sage used her adorable feet and ballerina toes to communicate, explore, and dance. Sage had a special relationship with music and insisted that it always be playing around her. She was an expert at sing-alongs, and had the most fun with her aunt Cindy and "Giddy Up Horsey." Sage was adored by her big sister Fay; together they would play dress up, have tea parties, and fly down hills together.
Sage and her family created precious and lasting memories by going camping, traveling to Florida on a Make-A-Wish trip, and making countless visits to aquariums, zoos, and swimming pools. Sage enjoyed having a breeze across her face, whether she was four-wheeling, going to the park, or riding in her dad's backpack while on an archery shoot. 
Throughout her hard times, Sage still gave "thumbs ups" and "high fives" freely, and she made sure her hair was as wild and unique as she strived to be. Up until her last day, Sage demanded to be in her happiest place, which was at school, learning and playing with her friends. Named "Most Determined" by her preschool class (and "Most Stubborn" by her parents), she did not want to see the school year end. She graduated posthumously on May 17, with her sister accepting her diploma on her behalf and leaving her family to sing "Itsy Bitsy Spider" with her in their hearts. She touched countless lives with her determination, exceptional cuddle abilities, and sunshine smile. She will continue to touch many more through the donation of her tissues for JS research. 
Sage is survived by her parents, Candace and Mark Hudson, and sister, Fay G. Hudson, of Bountiful, Utah; grandmother Sherry Hudson; grandfather John Parker; "Grandpa" Mikey Sonderman; aunt Cindy Hudson; aunt Jennifer Rose; uncle Jake Hudson; aunt Kristina Parker, and a large and loving extended family. She is preceded in death by her grandmother, Janet C. Parker, her uncle Fred Hudson, and her friend and red wagon compatriot, Zephyn Cook.
The family would like to thank the village that helped Sage on her journey, including her Early Intervention team, Ms. Megan Liddell's class, Dr. Sharon Schriewer, and Sage's hand-picked team from CNS hospice - Crystal, Nicole, and Sheryl. Angel's Hands (www.angelshands.org) and the entire JS family were especially instrumental in providing support, comfort, and laughter over the years. In lieu of flowers, donations can made in the name of Sage Hudson to the Joubert Syndrome Foundation (www.joubertfoundation.com). Her family will be sharing her life and indomitable spirit with a celebration in mid June. Updates on date and time will be available on www.leavittsmortuary.com

June 15, 2012

A visit with Carrie

We got to see our dear friend Carrie, Hannah's mom, when she was visiting nearby Snowbird, UT.
Seeing her was one of the highlights of our summer!  Love you, Carrie!

June 13, 2012

Adrenal Insufficiency Take 2?

Last Sunday, Bertrand was low on energy after therapy.  Then he was increasingly sleepy on Monday. By Tuesday, he was not eating and unresponsive.  Much like during his hospitalization, there were no other symptoms--no fever, no mucous, no cough.

Seeing Bertrand like this was terrifying.  Searching "adrenal crisis" brought up the symptoms of sleepiness, lack of appetite, and chapped lips.  And coincidentally, Bertrand had unusually dry skin and severely chapped lips.

We considered taking him to the ER, but decided to try a stress dose of hydrocortisone first.  Within the hour, Bertrand was completely back to his old self for the first time in weeks!

It's fantastic that we were able to identify and address the root of his condition.  But, it's scary how quickly he went down hill.  It's also disturbing proof that his adrenal insufficiency is very real.

Bertrand will be on the hydrocortisone for 2 more days, and he sees an endocrinologist next month.  I hope he doesn't need the steroid stress dose again.  We're keeping a close eye on him.

June 8, 2012

NEW Bertrand Might Research Fund

Hudson Freeze Ph.D.
We've decided to fund a postdoctoral researcher (MD/Ph.D.) at Sanford-Burnham Medical Research Institute to identify and test possible treatments for Bertrand's genetic disorder over the next few months.  Bertrand's skin and liver cells will be used to test a host of therapeutic compounds at a super cool chemical genomics facility.  Such studies are an important step to procure FDA approval for investigational new drug use.

This is the critical next step in pushing the boundary of human knowledge and saving our son.

Dr. Hudson Freeze at Sanford-Burnham is an expert on rare genetic diseases and a leading researcher in the field of glycobiology. This scientific field that studies how cells coat proteins with sugar molecules—the process that is malfunctioning in Bertrand’s cells. 
By donating to the Bertrand Might Research Research Fund, you will help Dr. Freeze’s lab unravel this unique and mysterious disease, now called N-Glycanase Disorder. You can help bring hope to Bertrand’s family and possibly prevent other families from experiencing this same tragic ordeal.

Many people have asked how to help Bertrand and other kids like him.
We need $125,000 to fund research for one year.

Your messages of support over the past week have meant the world to us.  Thank you.  :)

June 7, 2012

Back to "normal".

Watching the horses at Wheeler Farm.
Victoria smiles at her brother.
Bertrand laughs at his sister.

This afternoon, Beli and I took the kids to Wheeler Farm. Both kids love animals - the louder, the smellier, the bigger, the better.  :)

Upon getting home, we got some good news about Bertrand's labs.  His CBC and CMP values have basically normalized.  His sodium is still a shade low at 133 but everything else looks great for Bertrand.  I am so relieved to see his ALT at 55 and AST at 56!  Heck, even his platelets high at 424.  This means his liver and bone marrow are functioning well.  

In other news, Bertrand's tonsillectomy evaluation was set for later this month, and I am working to get his liver biopsy sample to the folks at Sanford-Burnham. 

We go to the zoo tomorrow and titi Aury comes out this weekend!  The summer fun has begun.  :)

June 6, 2012


Bertrand as he was discharged last week.
Bertrand wakes up a lot at night.  His prior sleep study was hard to interpret due to his epilepsy.

However, it's believed that he may have some sleep apnea.  He will be evaluated by an ENT since his tonsils are a bit large.

If the doctor believes there is merit, Bertrand may get his tonsils removed.  This may actually be easier and less costly than another sleep study.

Despite having a referral, getting in to see the ENT has been a nightmare.  I'll be going in person tomorrow.

June 5, 2012

Tag! We're alive.

Bertrand's new walker arrived today! He'll practice with it during therapy.
There is a lot going on.  We're starting up a fellowship through Dr. Hudson Freeze's lab at Sanford-Burnham Medical Research Institute to identify and test treatments.

More potential cases of N-glycanase deficiency have been identified and are currently being tested at Duke University.

One of the cases is a 13 month-old boy.  Learning about this little baby, I've grown even more desperate to find a treatment.  In my mind's eye, this is who I see:

We must find a treatment.

June 4, 2012

Adrenal Insufficiency

adrenal glands
Source: http://en.wikipedia.org/wiki/Adrenal_insufficiency

At Bertrand's doctors' appointments today, it was agreed that he likely has adrenal insufficiency.  He will be following up with an endocrinologist (again).  Labs will be rechecked, but as of last week, the values were consistent with the table above.  

Adrenal insufficiency is manageable.  Awareness is key.