His wife Nancy couldn’t take the snoring anymore, so after a couple of months Dan Nagridge went to ask his doctor if he had sleep apnea.
He ended up at the University of Michigan Health System, with a surprise diagnosis: cancer at the base of his skull. It was chordoma, a slow-growing cancer that’s extremely rare, pushing on the back of Dan’s throat that made him start snoring.
“The cancer starts from tissue that was left when he was forming as an embryo in his mother’s womb,” says Erin McKean, M.D., MBA, a U-M otolaryngologist, or ear, nose and throat doctor, and Dan’s surgeon. “We don’t know why people develop this cancer, so we’re very invested in advancing the research.” Continue reading →
James Shayman, M.D., one of two U-M scientists who led the development of the drug eliglustat tartrate, now sold as Cerdelga
It took more than 40 years, and a lot of dedication. But an idea born and nurtured in University of Michigan laboratories is now making a difference in the lives of patients with a rare disease.
For one of the first times, a drug developed first at U-M, and then further by a company, made it through all the steps it takes to reach patients around the world.
And even though the disease it treats only affects about 10,000 people worldwide, it’s become a product that a company can sell and doctors can prescribe to their patients. In this case, it’s patients with the debilitating and potentially fatal rare condition called Gaucher disease.
Quinn Avis is much like many five-year-old boys. He loves Cars and Kung Fu Panda. He wants his 8-year-old brother, Desmond, to tackle him like the football players he sees on TV. He enjoys going to the park, and has an infectious ability to make others smile.
But Quinn is also a living miracle. According to his family, he is possibly the oldest known survivor of two extremely rare disorders: Prune belly syndrome and Berdon Syndrome, otherwise known as Megacystis Microcolon Intestinal Hypoperistalsis (MMIHS).
“My mom knew since my birth that something wrong was going on, but didn’t know what exactly,” says Daizha Hill, now 16 years old. “She kept a book where she would write down every symptom I was having when I didn’t feel good. Then she would try to look them up online to see what she could find out.”
Daizha and her mother, Juanita Brooks-Hill, went to several doctors in the Metro Detroit area looking for answers to her symptoms. Meanwhile, Juanita kept searching online for experts that helped patients with symptoms that matched what Daizha was experiencing.
That’s when she stumbled across Dr. Elif Oral, an endocrinologist, on the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) website. After further searching, she found that Dr. Oral had recently moved to the University of Michigan in Ann Arbor, which meant she was not too far away from them.
Daizha and Dr. Oral
After a few appointments with Dr. Oral, Daizha was officially diagnosed with lipodystrophy. Continue reading →
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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