Saturday, February 5, 2011

Rare Disease Day at NIH

On February 28, 2011, the National Institutes of Health (NIH) will celebrate the 4th annual Rare Disease Day with a day-long celebration and recognition of the various rare diseases research activities supported by the NIH Office of Rare Diseases Research, the NIH Clinical Center, the NIH Institutes and Centers, the Health Resources and Services Administration (HRSA), the Food & Drug Administration’s Office of Orphan Product Development (OOPD), the National Organization for Rare Disorders (NORD), and the Genetic Alliance. Rare Disease Day at NIH (RDD@NIH) will be held in the Lipsett Amphitheater from 8:30AM to 5:15PM.

In addition to the various scheduled talks, we expect to have posters and exhibits from many groups relevant to the rare diseases research community. Attendance is free and open to the public. In association with the Global Genes Project, we encourage all attendees to wear their favorite pair of jeans. You can view the agenda here.

While attendance is free, we would like to know how many people are planning to attend so that we can prepare accordingly. If you would like to attend, please register here. If you would like to display a poster or exhibit, please contact Dr. David J. Eckstein at for more information.

Sign language interpreters will be provided. Individuals with disabilities who need reasonable accommodation to participate in this event should contact Kimberly Potter at or 301-251-4962 or the Federal TTY Relay number at 1-800-877-8339.

About Rare Disease Day

Rare Disease Day was established to raise awareness with the public about rare diseases, the challenges encountered by those affected, the importance of research to develop diagnostics and treatments, and the impact of these diseases on patients' lives. The focus of Rare Disease Day 2010 was 'Patients and Researchers, Partners for Life!' and is aligned with ORDR's philosophy that researchers need to work closely with patients and patient advocacy groups to maximize chances for success. This philosophy has been put into practice in our very successful Rare Diseases Clinical Research Network.

There are about 7000 rare diseases identified in the United States. About 80% of rare diseases are genetic in origin and about 75% affect children. Rare diseases can be chronic, progressive, debilitating, disabling, severe and life-threatening. Information is often scarce and research is usually insufficient. People affected face challenges such as delays in obtaining a diagnosis, misdiagnosis, psychological burden and lack of support services for the patient and family. The goals remain for rare disease patients to obtain the highest attainable standard of health and to be provided the resources required to overcome common obstacles in their lives.

By highlighting these issues, the NIH Office of Rare Diseases Research hopes to

  • Raise awareness of rare diseases
  • Strengthen the voice of patients and patient advocacy groups
  • Give hope and information to patients
  • Bring stakeholders closer together
  • Coordinate policy actions within the United States and with other countries
  • Inspire continued growth of the awareness of rare diseases
  • Emphasize rare disease research and the search for new therapeutics
  • Get equality in access to care and treatment

The first Rare Disease Day sponsored by EURORDIS was held in Europe on February 29, 2008. February 29th was chosen since it is a rare day and it is symbolic of rare diseases. 2009 was the first time that Rare Disease Day was observed in the U.S. In addition to 17 European countries participating in Rare Disease Day 2009, the United States was joined by Argentina, Australia, Canada, China, Colombia, and Taiwan in celebrating the first global Rare Disease Day. The National Organization for Rare Disorders serves as the coordinator of this activity in the United States.

Progeria Briefing

Timed to correspond with the celebration of Rare Disease Day 2010, the Coalition for the Life Sciences is hosting a briefing of the Congressional Biomedical Research Caucus on “Children Aging Before Their Time: Can Progeria Now Be Treated?” The Congressional Biomedical Research Caucus provides a forum where members and staff can interact directly with preeminent researchers responsible for important scientific discoveries. For details, view the progeria briefing - (PDF, 37KB).


The Global Genes Project

The Global Genes Project A video developed by a rare disease parent advocate circulated on YouTube as part of World Rare Disease Day 2009, making a connection between jeans and genes. This video inspired a group of individuals and rare disease organizations to take this connection to the next level by creating the Global Genes Project, a grassroots effort to use jeans to raise awareness for rare genetic disorders.

This group has grown and continues to add individuals and organizations that want to be involved. The hope is that the rare disease community as a whole will view this initiative as an opportunity to build unity around this important cause. The goal is to create a platform for collaboration, while building awareness about the prevalence of rare diseases, educating the public about genes and the impact they play in rare diseases, and engaging support from the general public.

There are numerous organizations that are working to help some of the individual diseases. They are funding much needed research, helping drive policy and develop educational programs, all in an effort to bring hope to this underserved community. The Global Genes Project encourages those who are concerned and compelled to join the cause to help both individual rare disease organizations, children and their families affected, as well as the community as a whole.

Posted via email from Cushings Help

Friday, February 4, 2011

Dr. Ted Friedman will return for his Third Live Voice Interview, February 13, 2011

Theodore C. Friedman, M.D., Ph.D. has opened a private practice, specializing in treating patients with adrenal, pituitary, thyroid and fatigue disorders. Dr. Friedman has privileges at Cedars-Sinai Medical Center and Martin Luther King Medical Center. His practice includes detecting and treating hormone imbalances, including hormone replacement therapy. Dr. Friedman is also an expert in diagnosing and treating pituitary disorders, including Cushings disease and syndrome.

Dr. Friedman's career reflects his ongoing quest to better understand and treat endocrine problems. With both medical and research doctoral degrees, he has conducted studies and cared for patients at some of the country's most prestigious institutions, including the University of Michigan, the National Institutes of Health, Cedars-Sinai Medical Center, and UCLA's Charles Drew University of Medicine and Science.

He's the "Dr House" of endocrinology. He loves complicated cases and is an outstanding diagnostician.

He also has a PhD in pharmacology.
Posted Image The Everything Health Guide to Thyroid Disease: Professional Advice on Getting the Right Diagnosis, Managing Your Symptoms, And Feeling Great (Everything: Health and Fitness) (Paperback)

by Theodore C., M.D., Ph.D. Friedman (Author), Winnie Yu (Author)

If you have a thyroid condition, you are not alone. An estimated 13 million Americans suffer from thyroid disease. The Everything Health Guide to Thyroid Disease, cowritten by acclaimed thyroid specialist, Theodore C. Friedman, is the authoritative handbook you need to help you live with this disease. You'll learn about:

  • How the thyroid functions and dysfunctions
  • Who is at risk for thyroid disease
  • Well-known thyroid disorders-hyper, hypo, and Grave's disease
  • Far-reaching effects (weight loss and gain, anxiety, depression)
  • Treatments and living with the disease

Complete with a glossary, additional resources, and even a section on thyroid disease in children, The Everything Health Guide to Thyroid Disease is the complete guide for everyday healthy living.

Sample chapters (PDF format)

Kate (Fairley) and Dr. Ted Friedman on National Geographic TV, September 2007

Read Dr. Friedman's First Guest Chat, November 11, 2003.
Read Dr. Friedman's Second Guest Chat, March 2, 2004.
Listen to Dr. Friedman First Live Voice Interview, January 29, 2009.
Listen to Dr. Friedman Second Live Voice Interview, March 13, 2009.

Dr Ted Friedman will return for his Third Live Voice Interview, February 13, 2011, 9:00PM eastern. Listen live at

Posted via email from Cushings Podcasts

Thursday, February 3, 2011

Cushie 12-Step Program

I “acquired” this from another site and changed the names to protect the innocent…

As you know many of us Cushies have had or have an addiction to Googling.

I suggest anyone who feels compelled to google symptoms go to the message boards to ask for support instead of typing these or any words such as “buffalo hump” in the google search engine. When this is done all roads lead to one thing…… You Eat Too Much!; You’re Depressed!

So, anyone who is about to hit enter on their computer which feeds their Google addiction…. go to the message boards to ask for help. One of the other Cushies who have achieved “Google sobriety” will help you down of the ledge.

1. Admit for now that you are powerless over your urge to Google.
2. Believe that a power greater than you (that would be other Cushies) can help you off that ledge
3. Decide to turn your “fingers” over to a higher power as you understand it.
4. Make a searching and fearless inventory of what you hope to gain from googling.
5. Admit to yourself and to another human being the exact nature of your addiction to Google.
6. Allow other Cushies to assist you when you are so scared you are thinking about googling symptoms.
7. Humbly ask for Xanax, Klonopin or Cortef in order to calm yourself from googling symptoms
8. Make a list of all the diseases you think you have or have had and survived and have a burning ceremony and then…. take a nap.
9. Cite all Google sites you have searched diseases on and delete them from your favorites/history.
10. When you start thinking….STOP….. do something else, like take an inventory of your test results.
11. Seek through prayer and/or meditation to improve your thought process. Do not travel to “OMG’ or “What if” land (this is a serious suggestion).
12. Having had a spiritual awakening as a result of these steps, carry this message to all your Cushie friends and anyone else you know who has a Google addiction.

13. Now I know there isn’t a 13th step, however, if you have noticed you are drinking too much wine or taking too many pills, please remember there are other 12 step programs for that, lol…

So, what about it – what are *your* suggestions to cure Google Addiction?

Add this page to your favorite Social Bookmarking websites

Posted via email from Cushings Help

Tuesday, February 1, 2011

We Can Do It!

Adapted from an email from Tom O'Connor to a third party:

We can do it.  We are facing some obstacles but we will chart our way through the dangerous terrain.
And we will... help you build a happier life.

The links below take you to my wife Mary O’Connor’s story.
Mary went from working alone researching a rare disease in a library (pre-Internet)
To diagnosing the illness herself
To finally finding a doctor who agreed with her
   (After seeing a dozen or so who did not and who prescribed measures that would have failed and led to her death)
Then to  a successful operation at NIH, one of 4 places in the world which could do the operation
   (We rejected the Mayo Clinic and the other two candidates)
Then to founding a non-profit organization that puts out vital information on this rare disease to thousands of members throughout the USA and in dozens of countries around the world.

That looked impossible also back when Mary was reading medical research papers in a library.
But it is now accomplished and saving lives  and  growing every day.

The impediments facing you now will similarly yield to determined and purposeful action.
We already have the diagnosis and we have selected [treatment], the best and most proven treatment program n the world.
We will build success one day at a time by following this program together.
When it is clear that  we are winning, the crowd will gather, many of them saying how they knew all along we would win.
We of course will welcome them.
We will overcome all obstacles  in our path; working around them; or going over them; or through them.
  (Alert obstacles will get out of our way)

Tom O’Connor

MaryO, pituitary success story
(Cushings/Success Stories)
... the Ladies Home Journal magazine which said "If you have these symptoms...ask your doctor about Cushing's". After that, I started reading everything I could on Cushing's and asking my doctors. Due ...