The National Institute of Health (NIH) has halted the only national study on rare genetic connective tissue disease including Ehlers-Danlos, Fibromuscular Dysplasia, Marfans, Sticklers among other rare connective tissue diseases. 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.
What was lost?
‘‘Under the direction of Dr. Nazli McDonnell at the NIA clinical unit, more than 800 patients from around the world have been enrolled in a natural history study of hereditary disorders of connective tissue. The patients enrolled in longitudinal follow-up receive a comprehensive 2-day evaluation, including genetic testing, medical examinations, and cardiovascular imaging studies. Many of these patients meet the eligibility criteria for and are recruited into the GenTAC Registry during their visit to the NIA facility.”
I have Fibromuscular Dysplasia and Ehlers-Danlos, and like so many people, have lived with the stigma and suffering created by the mysterious disease. My only hope was the NIA/NIH research in which I was a participant. The study was and continues to be the only comprehensive, national research.
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.
The lead investigator Nazli B. McDonnell, MD, PhD, has been an NIA clinician in medical genetics since 2003. Her research was focused on clinical and molecular investigations of hereditary disorders of connective tissue, in particular EDS, Marfan syndrome, Stickler syndrome, hereditary aneurysm syndromes, and fibromuscular dysplasia. Dr. McDonnell was investigating the natural history of these disorders, and studying genotype/phenotype correlations and molecular and cellular mechanisms and exploring treatment strategies using plasma and tissue samples from affected patients.
In collaboration with Dr. Mark Talan at the NIA Laboratory of Cardiovascular Science, Dr. McDonnell had been working with a mouse model of vascular EDS to discover and assess treatment strategies. She was also investigating the role of tenascin X mutations and deletions in hypermobile EDS and congenital adrenal hyperplasia together with Dr. Deborah Merke of the Eunice Kennedy Shriver National Institute of Child Health and Human Development. https://gentac.rti.org/TheTeam/ClinicalCenters/NIAatHarborHospital.aspx)
If the NIA/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.
It is my goal to get 10,000 signatures to present to NIH/NIA. I remain confident that with each signature we are spreading awareness. Petition: https://chn.ge/1bsPjZo
Kari Ulrich: About the Activist
Kari Ulrich is a Registered Nurse with both Pediatric and Adult Emergency Room experience. She graduated from St. Catherine School of Nursing in Minnesota. Kari was diagnosed with widespread Fibromuscular Dysplasia, Brain Aneurysms along with Ehlers-Danlos Syndrome. Kari Ulrich has been a leading voice in the patient community for years. Upon learning that a National Institutes of Aging study in which she was a participant suddenly was closed, Ulrich began to call attention to the study’s closure and push government leaders to recognize what impact the study’s closure will have on the patient community.