May 10, 2012

Diagnosis FAQs

We've received quite a few questions about Bertrand's new diagnosis. :) I'll answer the most common:

A brand new disease?! Will it be named after Bertrand? 
Probably not. An eponymous disease is typically named after the researcher(s) who first described it. There are rare exceptions such as Lou Gehrig's disease, but Bertrand has never played in a World Series much less won 6. Besides, we think a descriptive name (N-glycanase deficiency or disorder) is much more helpful. :)

Do you want to meet the 2nd case of NGLY1 in person? 
We would love to meet another (and every) child like Bertrand and his/her parents. The existence of other kids with N-glycanase disorder is crucial for establishing causality and pushing forward the treatment agenda. Plus, it'll be nice to finally have a specific community!

Were researchers able to explain everything to you? Did it click into place? 
The research team explained everything thoroughly, and have made themselves available should we have any more questions. It's amazing how well most things fit into place with this NGLY1 diagnosis, given what little is understood about how N-glycanase works in mammals. Bertrand will be key to understanding what N-glycanase does in humans, and perhaps understanding other more common diseases due to the accumulation of misfolded proteins.

How does it feel? This must take so much weight off of your family's shoulders. 
For the first day or so after receiving the news, we mentally crashed. It was such a huge and indescribable relief. Since then, we've obviously had to gather our wits about us and press forward with the new issues which have arisen. But, yes, much weight was lifted... and now different weights have been added.

Does this now suggest which therapies are more likely to help? 
Yes! Which is an outcome we did not expect! This is an entire blog post to come. :-D