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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Adult Rare Disease Patients Face Unique Challenges

Though fibromuscular dysplasia may be diagnosed in children, the rare vascular disease is seen much more commonly in adult patients. Adult patients represent only 25 percent of the rare disease community—7.5 million of the 30 million Americans who are impacted by rare disease. Most rare diseases are diagnosed when patients are children, and indeed, the majority of those children do not live to become adults.

However, being an adult patient presents its own unique set of challenges. Adult patients are their own advocates while attempting to balance the realities of life as an adult—spouses, jobs, children—and while managing their conditions. However, much of the rare disease community's language fails to recognize adults patients.

Here, one mother of an adult FMD patient shares her perspective:

My daughter is an adult with a rare disease—fibromuscular dysplasia. She is no longer a cute little kid, but she is still my child. The thought that you could lose your child breaks your heart, no matter what age. Even though she manages her own medical treatment and has the support of a wonderful husband, we have always been there for the surgeries, the invasive tests, and the long recuperations. When your child has a rare and serious disease you can never completely relax because the next ring of the phone may bring dreaded news. I try to not let the knowledge that I will never have grandchildren make me bitter. I confess that the probability that my husband and I will outlive our only child is a bleak prospect.

FMD Chat encourages adult patients to make their voices heard in the rare disease community on this Rare Disease Day, Feb. 28, 2014, and throughout the rest of the year. Help educate rare disease organizations such as the National Organization for Rare Disorders, the Global Genes Project, EURORDIS, and others about what it means for you to be a rare disease patient.