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Every rare diagnosis reaffirms importance of research

Rare Disease Day is Feb. 29

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Heather Hawkins enjoys as normal a life as she can, while dealing with a rare condition called ARSACS.

Every time he treats a patient with a rare condition, Vikram Shakkottai is reminded that these rare diseases might affect more people than we think.

The neurologist and director of the University of Michigan Health System’s Ataxia Clinic has seen a spectrum of symptoms from one patient to the next who have the same diagnoses. It’s why he believes advancing research and genetic testing is so important.

Dr. Shakkottai pursued genetic testing with patient Heather Hawkins, who came to see him a few years ago to talk about trouble keeping her balance. Continue reading

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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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There’s no stopping Elana

12-year old girl with rare respiratory disease lives every day to the fullest

mott blog - elana mcewen pcdWhen Karen McEwen looks back at the first three years of her oldest daughter’s life, she describes it pretty succinctly.

“If we weren’t in the hospital, we were in a doctor’s office.”

Chronic bouts of pneumonia and bronchitis, severe wheezing and coughing, and repeated ear infections – it was one thing after another for Elana McEwen.

But doctors weren’t sure why Elana kept getting so sick. Eventually, her family was referred to C.S. Mott Children’s Hospital to see Dr. Marc Hershenson in the Division of Pediatric Pulmonology.

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Did norovirus just make you sick? U-M researchers are working to understand why

Stool samples now being collected from current and recent sufferers

A microscopic view of norovirus particles. Source: Centers for Disease Control & Prevention

A microscopic view of norovirus particles.
Source: Centers for Disease Control & Prevention

It came on like a thunderbolt, and is still making people sick and miserable across Ann Arbor.

But the norovirus outbreak that put the University of Michigan in the spotlight over the past week may have a silver lining.

Resarchers are working to better understand this virus that sickens tens of millions of Americans each year.

Just last week, a U-M Medical School research team received permission to begin collecting stool samples from people who are experiencing norovirus-like symptoms or just recovered in the past three days.

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Heart doctor runs his daily commute

Dr. Steven Bolling sets an example for patients by running to work everyday

 

Steven Bolling, M.D., a heart surgeon at the University of Michigan Frankel Cardiovascular Center, who like the rest of us tries to fit in some daily exercise — has been running to work every day for the past 30 years. It’s physical activity and it’s stress relief for the 60-year-old who fixes faulty heart valves.

He’s one of the busiest mitral valve surgeons in the country, helping patients whose hearts are forced to work harder when their mitral valve isn’t working properly. The operations take three to four hours and he usually does two cases a day.

Before hitting the road for his 6-mile run, he shared a few thoughts about his routine:

Athletic as a kid

As a kid I was a swimmer. When I pulled myself out of the pool I figured I’d better do something to stay active so I started running. I’ve basically run every day since then: college, medical school, residency and now that I’m on the faculty (as a professor of cardiac surgery).

My Zen moment

My motivation to go to work running is basically that it’s my Zen moment. I really take that time out and that’s when I think about stuff.

Practice what I preach

Some of my patients know that I run to work every day and they think it’s fascinating. They think it’s great that I’m getting in cardio every day. To practice what you preach is a good philosophy. I don’t know that running to work every day is practical for everyone, but doctors really should be examples for our patients.

bolling on road blog


Steven_Fredric_Bolling_headshotSteven Bolling, M.D., is the medical director of the U-M Mitral Valve Clinic. After earning a medical degree at the University of Michigan Medical School, he completed his surgical residency and cardiothoracic surgery training at Johns Hopkins. At the U-M, he leads cardio-protective lab research and tests minimally invasive strategies for treating mitral valve disease and tricuspid valve replacement.

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Myeloproliferative neoplasms: A collection of rare blood cancers

Called MPNs for short, they may be caused by an abnormal cancer stem cell

myeloproliferative neoplasms

Each MPN is a different condition, but they are thought to be caused by an abnormal cancer stem cell that may have acquired genetic mutations that make it unable to produce blood cells normally


Myeloproliferative neoplasms, or MPNs, are a group of chronic blood cancers with the potential to rapidly progress to a more advanced stage or to an acute leukemia. Though our understanding of why these cancers occur is still evolving, we believe these MPNs can arise from a common cause: genetic alterations within the stem cell that change the way these blood cells grow and divide. Scientists are unraveling the mysteries of these rare cancers, bringing new hope for patients through research and specialized treatment.

mCancerPartner recently talked to Marie Huong Nguyen, M.D., a hematology/oncology MPN specialist at the U-M Comprehensive Cancer Center. Dr. Nguyen leads multiple clinical trials at U-M to develop new therapies in MPNs. Dr. Nguyen’s MPN and Systemic Mastocytosis Clinic focuses on the diagnosis, treatment and follow-up of patients with many different types of MPNs. Continue reading