Rare Disease Day 2017

Today is #RareDiseaseDay 2017! Today, with events taking place in over 90 countries all around the world, we hope to raise more awareness than ever for rare diseases!

With the theme of research, and the slogan, ‘With research, the possibilities are limitless’, #RareDiseaseDay 2017 is an opportunity to call on all researchers, universities, students, companies, policymakers and clinicians to do more research and to make them aware of the importance of research for the rare disease community.

This year’s Rare Disease Day video, which has been viewed over a hundred thousand times and translated into over 30 languages,  draws a parallel with a routine that many of us go through multiple times a day – searching for an answer on the internet. The video highlights how isolating it is when you search on the internet but receive the response ‘your search had no results’. It also highlights the hope and promise that comes with additional research into rare diseases, something that must be continuously strived for.

You are still able to participate in raising awareness of the day and be part of the change, by sharing the video, the poster, or any Rare Disease Day material on your Facebook, Twitter or other social media platforms.

This year, on the tenth edition of the day, Rare Disease Day events will be held for the first time in four African nations, Botswana, Nigeria, Senegal and Sudan. Events will also be held for the first time in Saint Pierre and Miquelon.

Learn more at http://www.rarediseaseday.org/page/news/today-is-rare-disease-day-2017

What I’m doing for Rare Disease Day

rare disease day

 

Each and every day since 1897,  I tell anyone who will listen about Cushing’s.  I pass out a LOT Cushing’s business cards.

Adding to websites, blogs and more that I have maintained continuously since 2000 – at mostly my own expense.

Posting on the Cushing’s Help message boards about Rare Disease Day.  I post there most every day.

Tweeting/retweeting info about Cushing’s and Rare Disease Day today.

Adding info to one of my blogs about Cushing’s and Rare Disease Day.

Adding new and Golden Oldies bios to another blog, again most every day.

Thinking about getting the next Cushing’s Awareness Blogging Challenge set up for April…and will anyone else participate?

And updating https://www.facebook.com/CushingsInfo with a bunch of info today (and every day!)

~~~

Today is Rare Disease Day.

I had Cushing’s Disease due to a pituitary tumor. I was told to diet, told to take antidepressants and told that it was all my fault that I was so fat. My pituitary surgery in 1987 was a “success” but I still deal with the aftereffects of Cushing’s and of the surgery itself.

I also had another Rare Disease – Kidney Cancer, rare in younger, non-smoking women.

And then, there’s the adrenal insufficiency…

If you’re interested, you can read my bio here https://cushingsbios.com/2013/04/29/maryo-pituitary-bio/

 

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What You Should Know About Pituitary Tumors

Ask the Experts

Igor Kravets, MD
Endocrinologist, Assistant Professor Division of Endocrinology,
Diabetes and Metabolism
Stony Brook Medicine
Raphael Davis, MD
Neurosurgeon, Professor and Chair Department of Neurosurgery
Co-Director, Stony Brook University Neurosciences Institute

 

Where do pituitary tumors form?
Dr. Kravets: A pituitary tumor is an abnormal growth of cells in the pituitary gland, which is a small, pea-sized organ located in the center of the brain, behind the nose and eyes. The pituitary is a “master gland” of the body; it produces many hormones that control other endocrine glands and certain functions of the body.
Are they mostly benign or malignant?
Dr. Davis: Most pituitary tumors are benign (non-cancerous). However, because of the location of the pituitary gland at the base of the skull, pituitary tumors can cause problems since they grow upward. Eventually some will press against the area where the optic nerves intersect, causing vision problems. They can also cause hormonal imbalance.What causes pituitary tumors?
Dr. Kravets: No one knows for sure what causes pituitary tumors. About one to five percent of pituitary tumors occur within families. Most are not inherited, however there are certain, rare, inherited conditions such as multiple endocrine neoplasia type 1 (MEN 1), that carry a higher risk of pituitary tumors.

What are the different types of pituitary tumors?
Dr. Davis: Adenomas are benign tumors that develop on the pituitary gland behind the eyes. These tumors can change levels in hormone production or cause vision loss. Craniopharyngiomas are benign tumors that develop at the base of the brain where it meets the pituitary gland. They commonly affect children 5 to 10 years of age, but adults can sometimes be affected in their 50s and 60s.

What are the symptoms?
Dr. Kravets: Symptoms vary depending on the type and size of a pituitary tumor but not all pituitary tumors cause symptoms. Many pituitary tumors are not diagnosed until symptoms appear. Some pituitary tumors are found incidentally on brain imaging obtained for a reason unrelated to the pituitary. Certain symptoms may develop when pituitary tumors grow so large that they exert pressure on surrounding structures.

Such symptoms include:
• Changes in vision (particularly loss of peripheral/outer edge vision)
• Headache

Other symptoms are related to either deficiency or excessive production of certain hormones. Common symptoms caused by such hormonal disturbances include:
• Menstrual cycle changes (irregular or lack of menstrual periods
• Erectile dysfunction or loss of sex drive
• Weight changes
• Production of breast milk by a woman who has not given birth
• Accelerated or stunted growth in a child or teenager
• Growth of the hands, feet, forehead and jaw in adults
• Development of a round face, a hump between the shoulders or both

How is a pituitary tumor diagnosed?
Dr. Kravets: An endocrinologist will ask you about the symptoms you are experiencing, and about your personal and family health history. He or she will perform a physical exam and order tests of your blood and urine. A magnetic resonance imaging (MRI) scan or computerized tomography (CT or CAT) scan may also be ordered to obtain detailed images of the brain and the pituitary gland. In rare instances, a biopsy (surgical procedure to remove a small sample of the tumor for examination) is required.

What treatments are available?
Dr. Davis: Treatments may include surgery, radiation therapy or medication. Transsphenoidal surgery is surgery performed through the nose and sphenoid sinus (located in the very back part of the nose, just beneath the base of the brain) to remove a pituitary tumor. It can be performed with an endoscope, microscope or both and is a team effort between neurosurgeons and ear, nose and throat (otolaryngology/ENT) surgeons. Radiation therapy uses high-energy x-rays to kill the tumor cells and is recommended when surgery is not an option, if the pituitary tumor remains, or if the tumor causes symptoms that are not relieved by medicine.

Why choose Stony Brook?
Dr. Kravets: Our Pituitary Care Center provides access to all of the coordinated expert care you need in one location, close to home — which can make the course of your treatment easier. Our team includes specialists from endocrinology, neurosurgery, otolaryngology (ENT), radiation oncology, neuropathology, neuroradiology, neuro-ophthalmology, and patient education and support.

To make an appointment with one of our Pituitary Care Center endocrinologists, call
(631) 444-0580. To make an appointment with one of our Pituitary Care Center neurosurgeons,
call (631) 444-1213. To learn more, visit stonybrookmedicine.edu/pituitary.

All health and health-related information contained in this article is intended to be general and/or educational in nature and should not be used as a substitute for a visit with a healthcare professional for help, diagnosis, guidance, and treatment. The information is intended to offer only general information for individuals to discuss with their healthcare provider. It is not intended to constitute a medical diagnosis or treatment or endorsement of any particular test, treatment, procedure, service, etc. Reliance on information provided is at the user’s risk. Your healthcare provider should be consulted regarding matters concerning the medical condition, treatment, and needs of you and your family. Stony Brook University/SUNY is an affirmative action, equal opportunity educator and employer.

From https://www.stonybrookmedicine.edu/patientcare/pituitarytumors

Diagnosis and Treatment of Pituitary Adenomas

A Review
JAMA. 2017;317(5):516-524. doi:10.1001/jama.2016.19699

Importance  Pituitary adenomas may hypersecrete hormones or cause mass effects. Therefore, early diagnosis and treatment are important.

Observations  Prevalence of pituitary adenomas ranges from 1 in 865 adults to 1 in 2688 adults. Approximately 50% are microadenomas (<10 mm); the remainder are macroadenomas (≥10 mm).

Mass effects cause headache, hypopituitarism, and visual field defects. Treatments include transsphenoidal surgery, medical therapies, and radiotherapy. Prolactinomas account for 32% to 66% of adenomas and present with amenorrhea, loss of libido, galactorrhea, and infertility in women and loss of libido, erectile dysfunction, and infertility in men; they are generally treated with the dopamine agonists cabergoline and bromocriptine.

Growth hormone–secreting tumors account for 8% to 16% of tumors and usually present with enlargement of the lips, tongue, nose, hands, and feet and are diagnosed by elevated insulin-like growth factor 1 levels and growth hormone levels; initial treatment is surgical. Medical therapy with somatostatin analogues, cabergoline, and pegvisomant is often also needed.

Adrenocorticotropic hormone (ACTH)–secreting tumors account for 2% to 6% of adenomas and are associated with obesity, hypertension, diabetes, and other morbidity. Measurement of a late-night salivary cortisol level is the best screening test but petrosal sinus sampling for ACTH may be necessary to distinguish a pituitary from an ectopic source.

The primary treatment of Cushing disease (hypercortisolism due to ACTH-producing adenomas, which is the cause in approximately 65% of the cases of hypercortisolism) is adenoma resection and medical therapies including ketoconazole, mifepristone, and pasireotide.

Hyperthyroidism due to thyroid-stimulating hormone–secreting tumors accounts for 1% of tumors and is treated with surgery and somatostatin analogues if not surgically cured. Clinically nonfunctioning adenomas account for 15% to 54% of adenomas and present with mass effects; surgery is generally required, although incidentally found tumors can be followed if they are asymptomatic.

Conclusions and Relevance  Patients with pituitary adenomas should be identified at an early stage so that effective treatment can be implemented. For prolactinomas, initial therapy is generally dopamine agonists. For all other pituitary adenomas, initial therapy is generally transsphenoidal surgery with medical therapy being reserved for those not cured by surgery.

Read the full text here: http://jamanetwork.com/journals/jama/article-abstract/2600472

8 Things You Should Know About Addison’s Disease

adrenal-insufficiency

 

Cortisol gets a bad rap these days. (Guilty!) Yes, this hormone surges when you’re stressed. And yes, chronic stress is bad news for your health. But while too much cortisol can lead to all sorts of stress-related side effects, too little cortisol is equally debilitating.

Just ask someone with Addison’s disease. If you suffer from this condition, your adrenal glands fail to make adequate amounts of cortisol, says Betul Hatipoglu, MD, an endocrinologist at Cleveland Clinic.

Cortisol plays a role in regulating your blood pressure, heart function, digestion, and a lot else, Hatipoglu explains. So if your adrenal glands poop out and your cortisol levels plummet, a lot can go wrong. (In as little as 30 days, you can be a whole lot slimmer, way more energetic, and so much healthier just by following the simple, groundbreaking plan in The Thyroid Cure!)

Here’s what you need to know about this condition—starting with its craziest symptom.

It can make your teeth appear whiter.

Hatipoglu once met with a patient who was suffering from fatigue, belly pain, and mild weight loss. “Her doctors thought she was depressed,” Hatipoglu recalls. Toward the end of their appointment, Hatipoglu noticed the woman’s teeth looked very white. She realized they looked white because the woman’s skin was tan. “I asked her if she’d been on vacation, and she said she hadn’t been in the sun, and that’s when I knew,” Hatipoglu says. Some Addison’s-related hormone shifts can make the skin appear darker, almost like a tan. “Addison’s is the only disease I know of that can cause darkening of the skin,” she says.

Its (other) symptoms are popular ones.

 Along with darker skin, other symptoms of Addison’s include nausea, mild-to-severe abdominal or bone pain, weight loss, a lack of energy, forgetfulness, and low blood pressure, Hatipoglu says. Of course, those same symptoms are linked to many other health issues, from thyroid disease to cancer. “It’s very easy to confuse with other disorders, so many people see a lot of doctors before finally receiving a proper diagnosis,” she says. (One exception: For young women who develop Addison’s disease, loss of body hair is a warning sign, Hatipoglu adds.)
It’s rare.
Doctors also miss or misinterpret the symptoms of Addison’s disease because it’s very uncommon. “I’m not sure if it’s quite one in a million, but it’s very rare,” Hatipoglu says. “It makes sense that many doctors don’t think of it when examining a patient with these symptoms.”
It’s often confused with adrenal insufficiency.

A lot of online resources mention Addison’s disease and adrenal insufficiency as though they were two names for the same condition. They’re not the same, Hatipoglu says. While a thyroid issue or some other hormone-related imbalance could mess with your adrenal function, Addison’s disease refers to an autoimmune disorder in which your body attacks and destroys your adrenal glands.

That destruction can happen quickly.

While it takes months or even years for some Addison’s sufferers to lose all hormone production in their adrenal glands, for others the disease can knock out those organs very rapidly—in a matter of days, Hatipoglu says. “That’s very uncommon,” she adds. But compared to other less-severe adrenal issues, the symptoms of Addison’s tend to present more dramatically, she explains. That means a sufferer is likely to experience several of the symptoms mentioned above, and those symptoms will continue to grow worse as time passes.

Anybody can get it.

Addison’s is not picky. It can strike at any age, regardless of your sex or ethnicity, Hatipoglu says. While there’s some evidence that genetics may play a role—if other people in your family have the disease or some other endocrine disorder, that may increase your risk—there’s really no way to predict who will develop the disease, she adds.

Screening for Addison’s is pretty simple.

If your doctor suspects Addison’s, he or she will conduct a blood test to check for your levels of cortisol and another hormone called ACTH. “Usually the results of that screening are very clear,” Hatipoglu says. If they’re not, some follow-up tests can determine for sure if you have the condition.

There are effective treatments.

Those treatments involve taking oral hormone supplements.  In extreme cases, if the patient’s body does not properly absorb those supplements, injections may be necessary, Hatipoglu explains. “But patients live a normal life,” she adds. “It’s a treatable disease, and the treatments are effective.”

From http://www.prevention.com/health/addisons-disease-symptoms

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