fibromuscular dysplasia support, education & advocacy
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.

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Rare Disease Community Petitions Federal Government for Research Reinstatement

On Feb. 28, 2014, Rare Disease Day, FMD Chat's CEO/Chairman & Founder, Sarah E. Kucharski, and Patient Advisory Panel member, Fran Saplis, delivered a petition with more than 10,000 signatures and 16 supporting organizations to Dr. Francis Collins, director of the National Institutes of Health. The petition called for the reinstatement of research into connective tissue diseases, and the rare disease community's efforts to bring the study back resulted in a feature story on page A5 of The Wall Street Journal on March 20. The community now awaits an answer from Collins. 

Below is the letter Kucharski included with the petition. 


Only through research will the medical community come to understand rare diseases like my own, fibromuscular dysplasia. In the fall of 2013, the National Institutes of Health cut a study headed by National Institute of Aging researcher Dr. Nazli McDonnell. The cut was made without warning and without satisfactory explanation to the patients involved. I was one such patient.

Although rare disease patients are champions of hope, I have little hope of a cure within my lifetime. Instead I hope that my contributions to research will help the patients who come after me. Like the patients diagnosed with the rare diseases addressed in this study, my hope suffers. Too little research is being done to cut projects — particularly those that are close to providing publishable conclusions. Such cuts impact the rare disease community as a whole.

“ I think of the rare disease problem as a giant jigsaw puzzle with 6000 pieces (the number of diseases). They are all related, but we don't yet for the most part know how,” Dr. Christopher Austin, director of the National Center for Advancing Translational Sciences (NCATS), part of the NIH, said in a December 2013 online conversation with Wall Street Journal reporter Amy D. Marcus.

So little known means there is so much to learn. Research into rare diseases also provides insight into more common diseases, making the return on investment that much greater. However, patients like me, patients who have invested limited time, energy, and resources into making themselves available to research only to see that research cut will come to learn that the NIH does not consider making a return on these patients’ investments worthwhile, and research participation will suffer.

The study I reference, project number NIA Protocol 2003-086 “Clinical and Molecular Manifestations of Heritable Disorders of Connective Tissue," aimed “to investigate cardiovascular, neurologist, pulmonary, and musculoskeletal disease, and pain and quality of life issues and Marfan, Ehlers-Danlos, Stickler syndromes and in closely related disorders that are collectively termed hereditary disorders of connective tissue. This study may lead to better medical care for patients with hereditary disorders of connective tissue."

The study featured a longitudinal arm and a mutational analysis arm. About 450 people were to be part of the longitudinal arm; another 1,385 enrolled in the mutational arm, and 2,000 people contributed samples to the National Human Genome Research Institute at the National Institutes of Health that would be analyzed under this study. A substudy was “to help investigators learn more about how genes affect the development and/or management of heritable disorders of connective tissue, such as Ehlers-Danlos, Stickler, Marfan Syndrome or an Overlap Connective Tissue Disorder."

Preliminary findings indicated that several patients had a family history of early death due to vascular events and “treatment with losartan or other angiotensin receptor blockers that modulate the pathway may be of benefit in the treatment of patients suffering from FMD” — patients like me. As is common with rare diseases, FMD has no treatment. Doctors do their best with limited knowledge to manage symptoms and surgically repair vascular damage. It took 31 years and a history of renal, celiac, and mesenteric bypass; bypass failure; kidney loss; four cerebral aneurysms; and a gastric rupture before I even achieved a diagnosis.

With this petition, signed by more than 10,000 people, I implore the NIH to reinstate NIA Protocol 2003-086 “Clinical and Molecular Manifestations of Heritable Disorders of Connective Tissue” such that the years of research, patient investment, and taxpayer dollars do not go to waste. Bring the study to completion and conclusions to publication. Do not compound rare disease patients’ suffering by casting aside the work that keeps hope alive and perhaps even some of us.

The petition, which patient advocate Kari Ulrich initiated and championed, is still collecting signatures. To lend your support to the cause, click here