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August 12, 2015

Wordless Wednesday

Bertrand is back in action with his intensive therapy!

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Hi! Welcome to our blog.

NGLY1.org

N-glycanase (NGLY1) deficiency awareness, diagnosis, research, and support.

Medical Journey

Bertrand is the first case of N-glycanase deficiency in medical literature.

It took 4 years and a team of remarkable researchers to receive this diagnosis.

A synopsis of Bertrand's medical journey (on his dad's blog).

The article from The Journal of Medical Genetics is open access. (Bertrand and parents are "Trio 2" in the study.)

The New Yorker

June 21, 2014 One of a Kind
What do you do if your child has a condition new to science?

Salt Lake Tribune

November 25, 2012 Saving Buddy Utah couple races to help son with unique genetic disorder.

KSL 5 TV

December 24, 2012 Christmas Hope Utah family hopes for a Christmas Miracle: a cure for their son.

About Bertrand

Born in December 2007, Bertrand is a charming, serious, young man. He lives in Salt Lake City, UT and has global developmental delays (0-6 months-old developmental), brain damage, intractable multifocal epilepsy, peripheral neuropathy, liver damage, osteopenia, cortical visual impairment, movement disorder, and alacrima (lack of tears) resulting in corneal erosion.

Support Research

Research Fund

The Bertrand Might Research Fund has been established at Sanford Burnham Medical Research Institute, a 501(c)3 charitable organization. Your donation will help Dr. Hudson Freeze’s lab begin to unravel the mystery of N-Glycanase deficiency, and hopefully find a treatment in the near future. DONATE HERE

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Now I Can is a nonprofit 501(c)(3) charitable organization dedicated to helping disabled children reach their greatest potential through intensive physical therapy. Bertrand has benefited greatly from sessions there: Oct 2011, Dec 2011, May 2012, Aug 2012. His next session will be in July 2013.

HopeKids provides ongoing events & activities and a powerful, unique support community for families who have a child with cancer or some other life-threatening medical condition.

Angel Hands

The Angel Hands Foundation help Utah families deal with the everyday struggles facing families with rare diseases

Archive

► 2009 ( 253 )
- January ( 14 )
- February ( 9 )
- March ( 46 )
- April ( 34 )
- May ( 23 )
- June ( 18 )
- July ( 12 )
- August ( 11 )
- September ( 17 )
- October ( 19 )
- November ( 25 )
- December ( 25 )

► 2010 ( 142 )
- January ( 15 )
- February ( 16 )
- March ( 21 )
- April ( 16 )
- May ( 15 )
- June ( 13 )
- July ( 7 )
- August ( 12 )
- September ( 3 )
- October ( 3 )
- November ( 7 )
- December ( 14 )

► 2011 ( 135 )
- January ( 19 )
- February ( 12 )
- March ( 17 )
- April ( 13 )
- May ( 6 )
- June ( 3 )
- July ( 4 )
- August ( 5 )
- September ( 13 )
- October ( 16 )
- November ( 17 )
- December ( 10 )

► 2012 ( 187 )
- January ( 23 )
- February ( 14 )
- March ( 21 )
- April ( 14 )
- May ( 18 )
- June ( 10 )
- July ( 9 )
- August ( 14 )
- September ( 15 )
- October ( 16 )
- November ( 16 )
- December ( 17 )

► 2013 ( 58 )
- January ( 5 )
- March ( 3 )
- April ( 13 )
- May ( 6 )
- June ( 1 )
- August ( 14 )
- September ( 11 )
- October ( 4 )
- December ( 1 )

► 2014 ( 55 )
- January ( 1 )
- February ( 2 )
- March ( 3 )
- April ( 3 )
- May ( 10 )
- June ( 16 )
- July ( 14 )
- August ( 2 )
- September ( 1 )
- November ( 2 )
- December ( 1 )

▼ 2015 ( 15 )
- January ( 4 )
- February ( 2 )
- April ( 2 )
- June ( 1 )
- August ( 1 )
- September ( 2 )
- November ( 3 )

► 2016 ( 1 )
- January ( 1 )

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Support Bertrand: Rare Diseases Aren't So Rare.

Cord Blood Banking

Our son underwent an autologus stemcell infusion in August 2010. This is why we bank our kids' cord blood.

"The good life is one inspired by love and guided by knowledge"--Bertrand Russell

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