The National Institute of Health (NIH) has halted the only national study on rare connective tissue disease including Fibromuscular Dysplasia, Ehlers-Danlos, Marfans, Aneurysms and Sticklers. These diseases result in severe disability and even death for those afflicted. It represented the only hope thousands of families had in finding the cause and cure for these rare disease. We are asking the NIH to restore the 10 year study.
I have Fibromuscular Dysplasia, Ehlers-Danlos and brain aneurysms, and like so many people, have lived with the stigma and suffering created by the mysterious disease. My only hope was the NIH study in which I was a participant. The study was and continues to be the only comprehensive, national study. When I received a notice the study was ending and the critical samples collected could be lost I knew I had to act. Together with other participants and health advocates I started a journey to save the study.
Restoring the study will return hope, 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.
If the NIH continues with their current plan to end the study it will leave victims and their families without a place to turn for answers and send a message 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.
Please sign our petition and tell the NIH to return funding to this critical study.
For information on the progress already made, please visit the NIH website: http://projectreporter.nih.gov/project_info_description.cfm?aid=8552497&icde=18270239&ddparam&ddvalue&ddsub&cr=5&csb=default&cs=ASC
Note from Kari Ulrich:
Thank you everyone who has participated in signing and sharing this petition. I am not affiliated with any organizations, nor do I have any disclosures. I am one rare disease patient trying to make a difference. I do not recieve any compensation. If you would like to help spread the word of this petition you may promote this petition with a sponsored ad, button on the right. I do not recieve any funds.
A special thank you to Jason Barnaby for helping with the wording of this petition, this has helped so the general public can understand our plight.
Josephine M. Egan, M.D.
NIA Clinical Director
National Institutes of Health
National Institutes on Aging
Laboratory of Clinical Investigation
Harbor Hospital, 5th floor
3001 South Hanover Street
Baltimore, Maryland 21225-1233
Dear Dr. Egan,
It is with great sadness that I received your 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.
You asked in this letter “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. You 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 do not destroy any of the data or samples from Protocol 2003-086 and ask that you reinstate this study in full.