Category Archives: Uncategorized

A Rare Disease Patient Perspective

I would like to use this blog post to explain why the rare disease community is different, and why it deserves a different approach to the approval of treatment. This weekend I started reading Inside the FDA: the politics behind … Continue reading

Posted in FDA Reform, Uncategorized | 3 Comments

Unlimited Matching for Team Sanfilippo: August 24th at 1PM EST

On  Wednesday August 24th – starting at 1PM Eastern, Vivint will be matching donations to participating charities.  Unlike previous matching rounds, there will be no limit to the maximum match.  (previously you could only donate $50). Here is the catch, … Continue reading

Posted in Uncategorized | Leave a comment

Response from Vivint on the Proposed Rare Disease Conference

Vivint has created the Vivint Gives Back Project as a way to give money to deserving charities throughout North America.  Vivint also wants to help each organization involved raise awareness for their cause.  We have maintained and continue to maintain … Continue reading

Posted in Uncategorized | Leave a comment

From the Shire Half Yearly Report

Just a short except from the report, it seems that investment is heating up!  That is a good thing. Research and development (“R&D”) R&D expenditure increased to $354.8 million for the six months to June 30, 2011 (19% of product … Continue reading

Posted in Uncategorized | Leave a comment

Struck By Genetic Lightning

I just came up with a new phrase to show just how unlucky you need to be to get Sanfilippo Syndrome: Struck By Genetic Lightning.  What are the odds?  According to NIH, about 1 in 70,000.  How frequent is that?  … Continue reading

Posted in Uncategorized | Leave a comment

The Cost of Over-Regulation

I tuned in to the PDUFA hearing in Congress last week. PDUFA stands for Prescription Drug User Fee Act. Here is a description of its purpose: The Prescription Drug User Fee Act (PDUFA) was enacted in 1992 and renewed in … Continue reading

Posted in Uncategorized | Leave a comment

Reed was on CBS 11 in Dallas!

Many of you have probably already seen this, but here is the story that CBS 11 ran on Reed.  Carol Cavazos did a fantastic job. Thanks!’ Roy

Posted in Uncategorized | Leave a comment

Aziza Made a Video for Taylor Swift!

Posted in Uncategorized | Leave a comment

Vivint Video

Check out this video: Version #2, with different kiddos Thanks, Roy

Posted in Uncategorized | 1 Comment

Reed has “the moves”

Who would think that this kid has a terminal disease? Sometimes I wonder if, because I am so worried about tomorrow that I am going to miss today.  Hard not to do, I guess.  

Posted in Uncategorized | 3 Comments