Genetic testing leads to diagnosis for rare Von Hippel Lindau disease

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Haley Miller and her daughter, Layla

 

Haley Miller, now a wife and mother of two, went to her first genetic testing appointment at age 20.

“It was around 1999 and genetic testing had just been developed. As soon as it had, the doctor recommended our whole family go, so we did,” Miller says.

Most families don’t just think of setting up genetic testing, but when Miller’s father was diagnosed and eventually passed away from complications of Von Hippel Lindau, their family knew it could only help.

Von Hippel Lindau (VHL) is an inherited disorder where those affected experience abnormal growth of tumors and cysts throughout the body. The tumors can be both benign and cancerous and many of them can be found in the adrenal glands, kidneys, pancreas and central nervous system. Those affected by VHL undergo body scans each year to check for progression and changes in the disorder. Continue reading

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

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.

Continue reading

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

Marathon-running mom faces rare spinal cord tumor

February 29 is Rare Disease Day

In her third trimester, Aimee Garrison finally became convinced the soreness and tension across herAimee Preg Sloane Jogging stroller shoulder blades and into her back had to be more than just part of being pregnant.

“I had been running and lifting weights all the way up to 26 weeks,” the marathoner from Kalamazoo says, “so I slowed down, but it didn’t get better. Soon I was having trouble sleeping and keeping up with my toddler.”

Eventually, an MRI revealed Aimee was one of the less than 2,000 adults each year who find out they have a spinal cord ependymoma. A tumor the size of a baby carrot had been slowly growing in Aimee’s spinal cord, pushing her spinal cord against her vertebrae. Continue reading