From patient to advocate

February 29 is Rare Disease Day

cropped IMG_1244His 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

A rare achievement for a rare disease

U-M researchers’ work goes from discovery to drug, for Gaucher disease and perhaps more

James Shayman, M.D., one of two U-M scientists who led the development of the drug eliglustat tartrate, now sold as Cerdelga

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.

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Guidance counselors for your genes?

At-home DNA tests, and disease-specific tests, make genetic counselors more important than ever

Genetic counselors can help anyone understand their genetic risks, or results of genetic tests.

Genetic counselors can help anyone understand their genetic risks, or results of genetic tests.

Once upon a time, getting your DNA tested was a rare thing – as rare as the genetic diseases that the tests tried to detect.

But no more.

These days:

  • You can order a kit through the mail that can tell you what diseases you’re at risk of developing down the road.
  • Your doctor can order dozens of tests to look for specific changes or variations in your DNA that might be causing your symptoms, or putting you at risk of future problems.
  • Or if you’re pregnant, you can have your doctor draw a vial of your blood, which you can send in to get information about the DNA of your future child.

And the ability to personalize treatment based on the exact gene variations you carry in your body is speeding up for many conditions.

How is an ordinary person supposed to make sense of all this genetic information?

And what do you do if you take a test and it shows you have a high risk or a current problem?

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Quinn’s story: Meet a five year old boy who can’t digest food

Rare Disease Week: Preschooler is among the oldest known survivors of prune belly syndrome and Berdon Syndrome

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).

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Lipodystrophy: When fat loss isn’t a good thing

“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.

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Daizha and Dr. Oral

After a few appointments with Dr. Oral, Daizha was officially diagnosed with lipodystrophy. Continue reading

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