March 20, 2014

CNN: New Genetic Disorder Discovered

Kids who don't cry: New genetic disorder discovered

By Jacque Wilson, CNN
updated 2:53 PM EDT, Thu March 20, 2014
Grace Wilsey was born with NGLY1 deficiency, which is caused by two mutations in the NGLY1 gene.
Grace Wilsey was born with NGLY1 deficiency, which is caused by two mutations in the NGLY1 gene.

(CNN) -- What do you do when your baby lies limp in your arms, staring blankly into the distance while never crying?
What do you do when tests show signs of liver damage and your baby's seizures won't stop, but doctors can't tell you what's wrong or how to fix it?
Thanks to the Human Genome Project, which was completed in 2003, identifying new genetic mutations has gotten easier and cheaper. But geneticists often struggle to find patients who share these rare DNA quirks. Studying multiple patients with the same gene mutations and similar symptoms is crucial to identifying a new genetic disorder.
That's why a paper published Thursday in the journal Genetics in Medicine is so remarkable.
The paper identifies NGLY1 deficiency as an inherited genetic disorder, caused by mutations in the NGLY1 gene. The researchers have confirmed eight patients with these mutations who share several symptoms, including developmental delays, abnormal tear production and liver disease.

And they credit an "Internet blog" with bringing the patients and scientists together.

Read the FULL STORY at CNN.com

March 5, 2014

Report Card: Kindergarten Term 2

Reading Bertrand's report card cracks me up! I'm so glad he resolves conflict appropriately.  ;)

March 4, 2014

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!

February 20, 2014

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.  :)

February 4, 2014

House Bill 105

Even though it only just got introduced to the House, we hope H.B. 100 will go far.

The recently introduced Utah House Bill 105 would permit the importation and administration of cannabis oil (high CBD, low THC) extract for the treatment of epilepsy in adults and children under medical supervision in Utah.

The text of just one of the letters I wrote in support of this legislation is below.  Please visit Hope for Children with Epilepsy (the organization spearheading the effort to bring this treatment to Utah) for more information on how you can help.
February 4, 2014

Senator Jim Debakis
54 B Street
Salt Lake City, UT 84103

Dear Senator Debakis,

As your constituent (twice over), I am writing on behalf of my family to ask you to support of Rep. Gage Froerer’s House Bill #105 when it reaches the Senate—and I certainly hope it will! 
My 6 year-old son Bertrand “Buddy” Might is one of the potential beneficiaries of this piece of legislation, which would legalize the medical use of high-CDB, low-THC hemp extract.  

Buddy suffers from a rare genetic disorder called N-glycanase deficiency and suffers severe, intractable seizures as a result.  

His genetic condition is one of cellular metabolism so it also affects his liver, leaving heavy scarring (fibrosis).  For most existing seizure medications, liver failure is a side-effect for individuals with healthy livers. 

  My son does NOT have a healthy liver, so we are currently left with the choice between (A) leaving his seizures unmedicated and having his seizures kill him quickly or (B) medicating his seizures and waiting for his liver to kill him.   

No patient (or their parents) should ever have to face this tragic choice, if possible.

We have currently chosen Option B, but House Bill #105 would give us a much more appealing Option C: medicating our son’s seizures without damaging his liver.  (While CBD is metabolized in the liver, it is not as toxic as existing anti-eplieptic drugs.)

It is my sincere hope that you already support this bill and my letter only reinforces your position, but if you do not, please, please, please help pass H.B. 105!

This crucial piece of legislation is the only hope for many children like my son.

Thank you for your time and support!

Sincerely,
Cristina Might

January 27, 2014

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. 

December 31, 2013

Playing together: Beads

Victoria was playing with beads near Bertrand's wheelchair.

Bertrand noticed the beads and reached out to touch them.


Victoria then lifted the beads for Bertrand to grab:



She walked away, but I told her Bertrand still wanted to play, and she came back:



It warms our hearts to see these two play together.