May 11, 2013

Victoria's 2 Year Portraits

Victoria Elizabeth, our lil' vanilla bean, turned two last month.
Here are some photos that the miracle worker Staci took.
Victoria was a pint-sized diva, but you can't even tell she was mid-tantrum in most of these!
Now that is skill.  Thanks, Staci!


May 7, 2013

Another Happy Dance

I talked on the phone with another NGLY1 mom!  That brings the count up to two wonderful NGLY1 moms I've gotten to speak with.  Two fantastic families with beautiful kids fighting the same fight as Bertrand.

The NGLY1 community is growing, and it will be strong!

Back in September, I was crushed when for some unknown reason we would not be put in touch with the first NGLY1 family that was identified after ours.  It was like catching a glimpse of a life preserver while drowning, and watching it float away.

I am eternally grateful to the families and researchers who have reached out to us.

We won't let you down.

May 5, 2013

Baseball Game #2

Bertrand met up with some friends and family for another baseball game. A great time was had by all.

May 3, 2013

A Year at Base Camp

Bertrand's diagnosis of N-glycanase deficiency was officially rendered one year ago.  And we were jubilant! ...for a little bit.  Since then, I've half-jokingly referred to receiving the diagnosis as "reaching base camp".  Yes, it was an amazing achievement, but we've got a long way to go before reaching the summit.  I've spent a lot of this past year exhausted from simply thinking about the effort that lays ahead.

I am still reeling from the loss of Hannah, Bertrand's little girlfriend, who suffered from Gaucher's disease type 2/3. Hannah was the last child of our original blog/support cohort.  Losing Hannah essentially left Bertrand the last man standing.  The sensation was unsettling, to say the least.  Hannah was a fighter, and you couldn't find better parent-advocates than Carrie and Robert, her parents.  And yet, she still died.  What hope did that leave for Bertrand?

Hannah had a diagnosis.  And a community with foundations and awareness.  And researchers with funds and support from pharmaceutical companies.  And existing (if imperfect) enzyme treatments with FDA approval.  And that was not enough.

Bertrand had NONE of that--not even a diagnosis--a year ago.

If we look at history, first patients are usually dead patients.  They never benefit from the contributions they make to science.

But somehow, against the odds and our better judgement, we have hope.

So, how do you climb a mountain?  You take the next step.

We're now very focused on building a community, and though we can't release any specifics, we can reveal that seven additional cases of NGLY1-deficiency have been confirmed over the past year.

It really is a brand new disease: from 0 cases to 8 in one year.

We can't let ourselves get overwhelmed by the prospect of research or raising research funds or fighting for FDA approval or dealing with side-effects or rehabilitating Bertrand (should a treatment/cure work, that would be a mountain in and of itself).

We just have to take the next step.

We will continue to work with researchers at Sanford-Burnham and an ever-expanding team of scientists to understand N-glycanase deficiency and identify potential treatments.  We will continue to explore the scientific literature.  And we will work on building an NGLY1 patient registry and community (

We will climb this mountain.

Watch out, Summit.  Here we come.

May 1, 2013

My boys :)

My boys are on the cover of "Hacker Monthly"!  How adorable and hysterical is that cover?!  I LOVE it!  (Of course, I'm framing it.)

I couldn't be more proud of either Bertrand or Matt.  :)

Matt's article (original blog post HERE) details how Bertrand and Victoria inspired him to get in shape.

Yes, he's a great dad--and a strong one now too!