Patients Advocate for Rare Disease Research in Washington D.C. for Rare Disease Week

Dear Dr. Francis S. Collins,

With this petition of over 10,000 signatures we are asking the National Institutes of Health to restore NIA Protocol 2003-086 “Clinical and Molecular Manifestations of Heritable Disorders of Connective Tissue” and allow Dr. Nazli McDonnell and her fellow researchers access to all relevant data and samples so that she can continue her lifelong research.

Thank you to FMD Chat for printing and delivering our petition to Washington D.C.
Special thank you to Rare Disease Patients: Sarah Kucharski, Fran Saplis RN, and Judy Brown for delivering our petition!

I am writing on behalf of rare disease patients like myself who participated in the study along with the more than 500 patients who were on the waiting list to attend this study. The patient organizations that have been impacted this study's closure and have collaborated together to support this petition for the betterment of all patients are as follows:

Global Genes Project

Rare Disease Legislative Advocates 

EveryLife Foundation

Genetic Alliance

FMD Chat

EDS Network Cares

Dysautonomia International

Marfans Foundation

Rare Connect

NORD

Orphanet FRANCE

Croatian Alliance for Rare Diseases

The Joe Niekro Foundation

EDS Today

EDNF

CEDSA

Orphan Druganaut Blog

Sällsynta diagnoser/Rare diseases Sweden

Diseases that NIA Protocol 2003-086 “Clinical and Molecular Manifestations of Heritable Disorders of Connective Tissue” studied result in severe disability and even death for those afflicted. This research represented the only hope thousands of families had in finding the cause and cure for these rare diseases. Restoring the study will return hope and continuing the extensive work done over the last 10 years. It will ensure all the progress we have made will not have been in vain and keep us on a path to a cure. Each of the more than 10,000 signatures on this petition has helped spread awareness of rare diseases and the continued need for research. 

If the NIH does not restore NIA Protocol 2003-086, it will leave victims and their families without a place to turn for answers and send the message that our lives are not worth the investment of finding a cure. Even worse, the samples and results already gathered could be lost, leaving scientists to start over.

I ask you to reinstate NIA Protocol 2003-086 “Clinical and Molecular Manifestations of Heritable Disorders of Connective Tissue" and request a formal response to this petition. 

Warmest regards,

Kari Ulrich
Rare Disease Advocate and Patient 
Albert Lea, MN 56007
kaulrich@me.com