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 →
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.
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 →
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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