FMD patient Kari Ulrich has been a leading voice in the 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. Here Ulrich shares her thoughts on the study and the petition she began to bring it back.
The gift of affirmation is not easy to come by when diagnosed with a rare disease, but that is the gift I received from Dr. Nazli McDonnell almost a decade ago. My name is Kari Ulrich and I started a petition to reinstate National Institute of Aging Protocol 2003-086 “Clinical and Molecular Manifestations of Heritable Disorders of Connective Tissue." I am a patient with a complex history of Ehlers Danlos and Fibromuscular Dysplasia.
My family and I traveled from Minnesota to Baltimore to participate in Dr. McDonnell’s study. After years of unexplained symptoms and misdiagnosis, it was in that visit with Dr. McDonnell that I finally gained understanding along with validation of my symptoms.
I will never forget how scared I was to meet a distinguished researcher, not knowing what to expect. Dr. McDonnell had a way of putting me at ease, and for the first time I knew I was getting the help and care I so desperately needed. Dr. McDonnell examined me from head to toe. Throughout the exam she gave me insight as to why I had to walk with a cane during my pregnancies and why I had so many bladder issues from childhood into adulthood. The list of objective findings from blue sclera to hyper-mobile joints was explained to me in a way I could understand. I was fortunate my family was with me. We left understanding the genetics of my disease and what to watch for in our children. The knowledge we gained from Dr. McDonnell's then helped my doctors in Minnesota care for me.
My family and I were devastated when we received a letter stating that Dr. McDonnell's study, one in which so many patients like me had participated, suddenly was closed with no explanation. It is very difficult to put down in words what a throwing away a decade of research means to patients who have a rare disease. There has been so little research done on Fibromuscular Dysplaisa let alone its possible overlap with other connective tissue diseases such as Ehlers Danlos as Dr. McDonnell was studying. Our medical community has a few case studies, but not a cohort of patients such as this study was providing.
I can not stress enough the importance of Dr. McDonnell's study, let alone the importance of having a researcher who is familiar with connective tissue disease and its impacts on patients' lives. We must come together across disease communities to make our voices heard, get all of our questions answered, and demand that the NIA allow Dr. McDonnel to continue her work. The petition to reinstate NIA Protocol 2003-086 “Clinical and Molecular Manifestations of Heritable Disorders of Connective Tissue" has collected more than 5,000 signatures—and we are calling for 5,000 more. I ask you to please consider signing and sharing the petition, contacting your federal government officials, and putting in writing the impacts that rare disease has had on you. You also may consider contacting the National Institute of Health and National Institute of Aging officials who follow:
Dr. Francis Collins
Dr. Richard Hodes
Dr. Michael Gottesman
Deputy Director Intramural Research
Fibromuscular dysplasia (FMD) is a complex disease that is most commonly seen in women, with systemic presentation that may include stenosis, aneurysm or dissection most commonly in the renal and carotid arteries, migraine-like headaches, dizziness, and tinnitus or a swooshing sound in the ears. Low bone density, joint laxity and degenerative disease in the spine also have been linked to the disease. FMD is considered a rare disease; however, it is also believed to be underdiagnosed.