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Neuroendocrine tumors : What does this diagnosis mean?

Whether benign or cancer, neuroendocrine tumors are rare and can occur anywhere in the body

Neuroendocrine tumors

Neuroendocrine cells are part of the endocrine system; examples of the glands that are found in this system include the pituitary, thyroid and adrenal glands and pancreatic islet cells.

If your doctor told you that you had a neuroendocrine tumor, or NET for short, what would you think? Many possible questions may come to mind. Do I have cancer? How is this treated? What type of doctors treat these types of tumors?

To understand a diagnosis of neuroendocrine tumors, it helps to understand the basic biology of the neuroendocrine system. These cells are part of the endocrine system which includes the pituitary, pineal, thyroid, parathyroid and adrenal glands, pancreatic islet cells, the ovaries and testicles. Neuroendocrine cells are found throughout the body, but mainly in the digestive and respiratory systems. Continue reading

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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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When should you take your child to the emergency department?

mottblog - PCP or ER imageKnowing what to do when your child is sick can be a confusing experience. And it can be hard to think clearly when your child isn’t feeling well and needs your attention.

More often than not, your primary care office can be the most convenient, cost efficient way to get the care your child needs.

“When you’re not sure what to do, call your pediatrician,” says Kelly Orringer, MD, head of the General Pediatrics Division at C.S. Mott Children’s Hospital.

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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