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 (http://www.ngly1.org).
We will climb this mountain.
Watch out, Summit. Here we come.