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Wednesday, March 5, 2014

Dear Dr. Francis S. Collins...

March 5, 2014
Dr. Francis S. Collins
Director of NIH
National Institutes of Health
9000 Rockville Pike
Bethesda, Maryland 20892

Dear Dr. Francis S. Collins,
I am following up on the petition you received on Rare Disease Day, February 28, 2014. I would like to thank you for accepting our petition to reinstate protocol 2003-086. I hope you will give it some serious thought and consideration before responding. We are asking for a public response as this affects a large cohort of patients. With this petition of over 11,000 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.
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 by 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
Orphanet FRANCE
Croatian Alliance for Rare Diseases
The Joe Niekro Foundation
EDS Today
Orphan Druganaut Blog
Sällsynta diagnoser/Rare diseases Sweden

It is with great sadness that I received a letter dated September 9, 2013, concerning the NIA Protocol 2003-086 “Clinical and Molecular Manifestations of Heritable Disorders of Connective Tissue” research study closed to data collection effective September 30, 2013. 

The letter stated: “What does this mean to you as a participant?” I would like to share with you what this means to me, other patients and families diagnosed with Ehlers-Danlos, Fibromuscular Dysplasia, Brain Aneurysms along with all the other related diseases that were being studied including Marfans and Sticklers. The complications of these diseases results in severe disability or death. The quality of life that we lead is challenging because lack of understanding by the medical community, lack of treatment and under treatment of symptoms such as pain. Needless suffering is happening daily. I am not going to quote statistics to you as these are unknown, but I will say the NIA Protocol 2003-086 “Clinical and Molecular Manifestations of Heritable Disorders of Connective Tissue” was providing information on all of these issues. Let me refer you to your own website to see the fantastic progress that was being made by this study.

The letter stated that you no longer will accept any more participants in this study. Are you aware of the hundreds of people who were on a waiting list to participate in this study, over 500 if I remember correctly. This is remarkable for a rare disease to have so many interested patients. I was one of the participants that was accepted into the longitudinal study (follow up in 5 and 10 years from my initial visit) I was waiting to return. Why is this important? Because my disease has progressed significantly and since there is a genetic component to this disease it affects my children and future grandchildren. Little research has been done in the past 30-40 years on Fibromuscular Dysplasia and less on the overlap of connective tissue disease. 

To take over a decade of research and close it in my opinion is an enormous loss to both patients and the medical community. I ask that you ensure all the of the data from this research has been properly maintained and all measures to be taken to ensure our data is not lost.

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 look forward to hearing a response from you regarding our petition by the end of this month.  You can contact me at with any questions 
Sincerely yours,

Kari Ulrich 
Petition Organizer and Rare Disease Patient