An accidental geneticist, with a special purpose

U-M scientist studies rare bone-growth disorder, skeletal dysplasia, that affects her son

Geneticist Sally Camper, Ph.D.

Geneticist Sally Camper, Ph.D.

Sally Camper calls herself an accidental geneticist. But it’s no accident that her discoveries have helped solve many mysteries deep within human DNA.

Working with scientists around the world, she’s helped find the genetic causes of several rare birth defects.

Including ones like the disease that affects her own son.

In fact, she says, being the parent of someone with a rare disease has given her a new perspective on just how important genetic research really is.

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Young woman’s stroke launches Fibromuscular Dysplasia movement

Pam Mace, founder of FMDSA, urges patients to join patient registry

A stroke at age 37 is rare for most any one, but as an active adult who had adventures like scuba PamMace3.fwdiving and skydiving, it just didn’t make sense to me. I knew my body.

The day it happened, I woke up with a headache. After going for a 3 mile run later that day I noticed my pupils were unequal. I should have gone to the hospital right away but I didn’t. I just didn’t think I could have a stroke. But I did.

It would take a year before my doctors could explain why I had a stroke so young: fibromuscular dysplasia. The diagnosis would inspire me to start a movement around a rare vascular disease that affects women in the prime of their lives.

The two most common symptoms of fibromuscular dysplasia are headaches and high blood pressure. Think about how many people are walking around with those symptoms that could have FMD but they are treated as every day symptoms that millions of Americans have.

It’s why FMD has been called the rare disease that isn’t. FMD has always been considered a rare disease, and is still classified as a rare disease. But because it manifests so differently it’s likely underdiagnosed. Some research suggests as many 5 million Americans have FMD. Continue reading