Two Organs Short: Spreading the Word

Thursday, October 20, 2011

Spreading the Word

Two weeks ago I posted this after I sent an email to the Office for Rare Diseases Research in an attempt to get pancreatic agenesis onto their database. Overnight I received this reply from the lovely GARD people in the US:

The Office of Rare Diseases Research (ORDR) forwarded your e-mail regarding pancreatic agenesis to the Genetic and Rare Diseases Information Center (GARD). GARD is operated under the direction of the ORDR and the National Human Genome Research Institute (NHGRI) to help people find useful information about genetic and rare diseases. In your e-mail, you requested that we add pancreatic agenesis to our database to help people find information on this condition.

We appreciate your feedback, and we have added this condition to the ORDR list of rare diseases. We also created a Web page for pancreatic agenesis with information and links to resources. If you have any other suggestions or concerns, please contact us again.
http://rarediseases.info.nih.gov/GARD/Condition/10874/Pancreatic_agenesis.aspx

It's not the greatest scientific leap forward but hopefully by getting the information out there future parents and clinicians will be able to get answers easier than we did.

No comments:

Post a Comment

About the blog

I am the proud father of three children, one of whom has a rare condition called pancreatic agenesis, which means he was born without a pancreas. He was also born without a gall bladder (hence the two organs short bit!) and with multiple heart defects.

I've read a number of great, thought-provoking, funny and informative blogs by diabetics or parents of diabetics and thought with my son's condition I could write one with a slightly unique viewpoint. With such a rare disease this may become one of the least read blogs on the web, or it may hold some interest for those in the diabetes world, even if just as a curiosity.

And perhaps, for some parents desperately searching the net for anything they can find when they are at their lowest and feeling utterly alone, as we were a few years back, it might offer hope.