Boston for Bertrand

Bertrand's runner, Pam (#28444) and her husband yesterday.

Today, Pamela Lynch (Bib #28444) is running the Boston Marathon for our sweet Bertrand.

In his name, she is raising funds for the NIH's Undiagnosed Diseases Network (UDN).

You can make a tax deductible donation through NORD to support the UDN and give undiagnosed families answers and hope HERE.

Pam is a regional manager for Genzyme, an amazing wife, mother to 2 kids, athlete, and an advocate for rare disease diagnosis, research and treatment.

Bertrand was supposed to be cheering her on today at one of the checkpoints in Boston.

Instead we will be FaceTime-ing with her from home as Bertrand's cold progressed to pneumonia, and we were unable to make our Friday flight.

(I'll update on this later.  He is feeling much better thanks to antibiotics but not 100%.)

We are honored to have her and the Running 4 Rare Team championing Bertrand, NGLY1 and the rare disease community.

As we well know, a diagnosis is the first step toward understanding, treatment and a cure.

The groundbreaking work the NIH's UDN is doing deserves all the support we can muster.

All families deserve answers.  They deserve hope.

Thank you, Pam!  Your Running 4 Rare is making a difference!  We love you!

NGLY1.org Facebook Launch

Yesterday, we launched the NGLY1.org page on Facebook to facilitate N-glycanase (NGLY1) deficiency family-researcher interaction and provide support.

We invite everyone to join.  The page will be a public one, but we reserve the right in the future to make it private if necessary.

In 2012, we launched NGLY1.org as a resource for clinicians, a means of finding new N-glycanase deficiency patients, and a way to support their families.

We will continue to promote N-glycanase deficiency, so patient families will be able to find our community and receive the same support we find so valuable.

We are no longer alone.  :)