2nd Annual Patient Advocacy Summit


Come join us for our 2nd Annual “RARE Patient Advocacy Summit
to be held on Friday, September 20, 2013
at The Balboa Bay Club & Resort in Newport Beach, CA.

Register today!

Seating is limited for in-person participation.

Webcast registration available for those unable to attend in person.


From Symptom to Cure:  The Journey of a Rare Disease Advocate ~ Equipping Patients to Make a Difference

Join Global Genes | RARE Project for a unique and interactive educational experience at our 2nd Annual Patient Advocacy Summit on Friday, September 20, 2013.   There is no charge to participate in this event.

A rare diagnosis changes everything. It crashes plans and dreams, knocks you off your feet, and requires a continual investment of time and money as you try to determine what should be your next step.  The purpose of the RARE Patient Advocacy Summit is to help patient ADVOCATES become successful ACTIVISTS and to provide the discussion, insights and tools to move down this advocacy path, equipped and prepared.

The summit will offer practical advice, case studies and networking opportunities as we learn from one another.  The goal is to have patient advocates walk away with a better understanding of the challenges they will face and where they can be most effective in helping advocate for their disease/disorder.

Attendees will:
  • Learn how to get started: obtain 501c3 status, write grants, leverage PR effectively and utilize social media to spread your message.

  • Collaboration: Understand how to successfully work with other rare disease stakeholders, patient advocates, the FDA and other government entities.

  • Learn the importance of patient registries, the different types of registries and how advocates can support them.

  • Explore the role of foundations and advocates related to scientific discovery and drug development.

  • Gain a broad understanding of the scientific process, including diagnostic and research methodologies and collaborations with academia and industry.

At the end of this day-long event, each participant will gain perspective on the complexities and questions that need to be considered in order to become effective advocates for the rare disease patients and help advance therapies in the rare diseases we represent.

Who Should Attend:
  • Rare disease patients, caregivers, family members and friends
  • Patient advocates

Whether you are new to this rare disease journey or an experienced traveler, an individual advocate or part of an existing rare disease organization, you will gain value from this event.

Register today!


Hotel and Travel Information


Sponsor Information

To become a sponsor or for more information, please contact Nicole Boice.  We look forward to seeing you at this year’s summit.

 View videos from our 2012 event.

Seminar: Putting Patients First



September 30, 2013 | 9:30 am – 2:30 pm
W Hotel, 515 15th Street, NW, Washington, DC

How do patients, providers, and payers know whether health information is credible, accurate, useful or appropriate?

Comparative effectiveness research (CER) has the potential to improve health outcomes by helping people make better-informed decisions. But how do we know that CER will generate information that is useful?

You can help us find the answers by joining us on September 30 for a conversation and symposium featuring a broad range of health care stakeholders—patients, providers, policymakers, payers, researchers, and those who fund research. We’ll focus on an effort led by the National Health Council to create a framework to guide the development of CER, evaluate its results, and assist in communicating the findings to the right audiences.

Be a part of the conversation—register today and add your voice to our efforts to make CER useful. Tweet about it using #useCER.

Bio Categories

Chemical structure of cortisol.

Chemical structure of cortisol. (Photo credit: Wikipedia)

List of all the categories from Cushing’s Bios

Mortality in Cushing’s syndrome: data from 386 patients from a single tertiary referral center


M Yaneva, Endocrinology, Medical University, Sofia, 1341, Bulgaria.

European Journal of Endocrinology, 08/16/2013  Review Article

Yaneva MK et al. – Data on the incidence, mortality and causes of death in patients with Cushing’s syndrome (CS) are scarce, due to the rarity of CS. The aim of the study was to analyze mortality rates in CS in a large cohort of patients of all etiologies and to determine the cause of death. Patients with CS have increased mortality due to vascular events and infections.



Data on the incidence, mortality and causes of death in patients with Cushing’s syndrome (CS) are scarce, due to the rarity of CS. The aim of the study was to analyze mortality rates in CS in a large cohort of patients of all etiologies and to determine the cause of death.


This was a retrospective study of patients with CS, treated over a period of 45 years in the main tertiary referral center in Bulgaria.


386 patients with CS of all etiologies were included. The main outcome measures were the standardized mortality ratio (SMR) and the cause of death.


Mean (± SD) age at diagnosis was 38±13 years; 84% of patients were women; mean follow up was 85 months (range: 0-494 months). The SMR in the CS cohort was 4.05 (95% confidence interval (CI) 2.50-5.80) (p<0.0001). The following subgroups did not have a significantly increased SMR: patients with Cushing’s disease SMR – 1.88 (95%CI 0.69-4.08), adrenal adenomas 1.67 (95%CI 0.20-6.02) and ACTH-independent bilateral adrenal hyperplasia 1.14 (95 %CI 0.21-6.34). Patients with adrenal carcinomas, ectopic CS and those with CS of undetermined etiology had significantly increased SMR: 48.00 (95%CI 30.75-71.42), 13.33 (95%CI 0.00-24.59) and 4.00 (95%CI 0.48-14.45), respectively (p<0.0001). The significant predictors for mortality were active disease at death, age, male sex, etiology of the disease, the overall duration of active disease. The major causes of death were vascular events (40%) -cardiovascular 29% and cerebrovascular 11%, followed by infections (12%).


Patients with CS have increased mortality due to vascular events and infections.

Read more at MDLinx

Headache and pituitary disease A systematic review

Clinical Endocrinology, 08/15/2013  Evidence Based Medicine  Review Article

Kreitschmann–Andermahr I et al. –

English: Cavernous sinus

English: Cavernous sinus (Photo credit: Wikipedia)

Headache is very common in pituitary disease and is reported to be present in more than a third of all patients with pituitary adenomas.

Tumour size, cavernous sinus invasion, traction or displacement of intracranial pain–sensitive structures such as blood vessels, cranial nerves and dura mater, and hormonal hypersecretion are implicated causes.

Some studies suggest that oversecretion of GH and prolactin may be important for the development of headaches and treatment, particularly with somatostatin analogues, has been shown to improve symptoms in these patients.

Otherwise, treatment rests on general treatment options for headaches based an accurate clinical history and a precise classification which includes assessment of the patient’s psychosocial risk factors.

From PubMed

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