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Teen’s reaction after heart transplant goes viral

Trevor Sullivan’s mother hadn’t even meant to videotape her son’s emotional awakening after heart transplant surgery. She’d intended to take a photo with her mobile phone, but accidentally set it on video, instead.

Trevor, 15, said it was OK. He wanted to tell friends and family following his medical journey on Facebook that he felt “amazing” after 10 months on a transplant waiting list. “I’m so happy,” he said tearfully. “I’ve been waiting so long…I can breathe again. I can talk.”

The Southfield, Mich., family posted the touching video online, and it was shared on the Facebook site for Gift of Life Michigan. The video went viral from there, attracting upwards of 1.7 million views and international media coverage including nods from CNN, the Today show and the Washington Post.

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Raising awareness about Wilson Disease

Sara Racine, shown here with her children, was very ill and with proper care has gone on to lead a very happy and successful life.

Sara Racine, shown here with her children, was very ill and with proper care has gone on to lead a very happy and successful life.

All of us need some copper to survive, however some people are born with a genetic disorder that eliminates the body’s ability to remove excess copper. This is called Wilson Disease and it affects about 1 in 30,000 people worldwide. If left untreated, copper levels can become dangerously high and cause severe tissue damage in the liver and brain. In some cases, it can be fatal.

Sara Racine, of North Branch, was born with Wilson Disease, but she did not know it until much later as a college student in her 20s.

“My primary doctor had been running some blood work on me for annual physicals, and my liver function levels were always elevated. I started not feeling well. I was tired all the time. I had no energy to really do the daily tasks of going to college. My doctor couldn’t really explain what was going on. My gallbladder had signs of not working well, so they thought that if I had it removed that I would be feeling better.

However, when it came time for the procedure to remove her gallbladder, Sara’s blood work showed that her liver function and enzymes were far from normal and the surgeon would not operate.

“By that time I was feeling defeated and upset because I just wanted to feel better. I remember feeling scared at that time because nobody knew what was going on with me and had no clue how to make it better. With my energy even more depleted, I had to drop out of school because I knew I wasn’t going to be able to function. I had no energy to do anything.” Continue reading

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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

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Get to know your heart

The heart is a miraculous muscle. It does more work than any other muscle in your body, continuing a steady beat as it pumps blood to all of your organs, minute after minute, day after day. But how much do you really know about your heart?

In celebration of American Heart Month, the University of Michigan Frankel Cardiovascular Center wants to help you get to know your heart by sharing 13 interesting and perhaps surprising facts …

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Frankel-informal-vertical-sigThe University of Michigan Samuel and Jean Frankel Cardiovascular Center is a top-ranked heart and heart surgery program among Michigan hospitals. To learn more, visit our website at umcvc.org.

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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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