NGLY1 Benefit for Jordan & Jessie!

The community of Jackson County, Georgia, USA is rallying around one of our amazing NGLY1 families: the Stinchcombs!

The Stinchcombs have one son and three daughters. Two of their daughters have recently been diagnosed through genetic testing they both suffer from the same very rare mutation in their DNA called N-Glycanase Deficiency, otherwise known as NGLY1. There are only 9 living children in the world with this rare genetic disease.

Everyday life for this amazingly resilient family is tough. Both girls who suffer from NGLY1 do not speak, they can not walk, they wear diapers, drink special formula, use wheel chairs and are completely dependent on their parents to meet all of their needs without ANY outside help.

Traveling anywhere as a family or even to the grocery store, is nearly impossible. The one thing that could change the quality of life for this precious family would be handicap accessible transportation equipped with a lift and large enough to accommodate the girls' two wheel chairs and the other two children. That is the goal of this fundraiser: helping them achieve mobility so their family can function more like an every day family! Please help us achieve this goal and beyond!

One $100 ticket admits two for dinner.

For tickets or donation information, please call Greg Reidling at 770-560-4628.

Salt Lake ComicCon, April 2014

We took the kids to Salt Lake ComicCon yesterday, and we all had a lot of fun.


Victoria met a wookie:

She also made a "Fairy Bat Princess" costume:

We all got to play on the bridge:

Victoria Turns Three!

Victoria Elizabeth turned three!

It's hard to believe it's already been three years.

It feels like she has already brought a lifetime of joy to our family. 

Victoria is 100% little girl.  She loves pink. She loves sparkles.

And, she is fearless.

She constantly impresses with her intelligence, her athleticism and her kind heart.

Victoria has never met a stranger.  

She will start a conversation with anyone... and talk their ear off.

(This can be interesting--particularly in public restrooms.)

She loves to tell stories and read--especially to Buddy and "baby Winston".

She is already the proudest big sister ever.  :)

Victoria is an animal lover; in particular she loves cats and snakes.

But, she has a soft spot for dogs too.  :)

She "officially" changed our dog Penny's name to "Bolt."

We are constantly amazed at what a potent personality was packed into such a tiny package.

Happy birthday to our "little miss sunshine"!

Bertrand, Mama, and Daddy love you.

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All photos by Staci Cummings of Sweet Envy Photography.

Victoria's 3rd Birthday Party

Victoria planned her own third birthday party.  

Everything (location, decorations, food, activities, guests) was done to her specifications.

What can I say?  My girl is a natural planner.  :)  The party turned out great!

We all had a wonderful time--the birthday girl most of all!

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All photos by Staci Cummings of Sweet Envy Photography.

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.

(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

Report Card: Kindergarten Term 2

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

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!