Cushing’s Awareness Challenge Countdown…

The Countdown Begins…

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Only 2 days until the Cushing’s Awareness Challenge 2015 begins.  At night, when I’m supposed to be sleeping, ideas for posts keep swarming through my head.  Sometimes, they form into fully-written posts.  Then, when I wake up, the posts are gone.

I plan to follow the suggestions to some extent and have a few ideas of my own.  Over the years, I’ve posted lots on several blogs but I don’t know if I can get 30 days of Cushing’s stuff together…again!  This is the fourth year of the Cushing’s Awareness Challenge.

At the moment, there are 14 participants in this challenge and growing.  Please follow their blogs.  The list is on the right side and is constantly updated as new URLs come in.

If you want to join us, its not too late.  Directions and suggestions for posts can be found here: http://cushie-blogger.blogspot.com/2015/03/cushings-awareness-challenge-2015.html

If you have ideas for what you’d like to read about (Cushing’s related, of course), please feel free to put it in the comments area.

 

Webinar: How to Discuss Genetic Disease with Your Loved Ones

Date:  April 1, 2015
Time:  11:00 am PT / 2:00 pm ET

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There are currently about 7,000 rare diseases identified worldwide, and approximately 80 percent of these are caused by genetic changes. But genetics is a topic that not all of us are familiar with.

This webinar covers the basics of the underlying genetics of rare disease and provides viewers with the strategies and advice to discuss them with the ones they love.

Panelists will share strategies they have used to explain genetic disease, challenges they faced, and helpful resources.

Panelists:
jenna_recombine Jenna Miller, MS, CGC, Genetic Counselor, Recombine

Jenna Miller is a certified genetic counselor at Recombine, a genetic testing company based in New York, NY. She works closely with families seeking preconception and prenatal genetic carrier screening and noninvasive prenatal screening. She also assists physicians and genetic counselors to facilitate appropriate genetic testing procedures. Jenna is passionate about genetics education; her Master’s thesis project involved developing and teaching a Genetics 101 class for student inmates at a maximum security women’s prison. Jenna is an advocate for informed consent, ethical approaches to genetic testing, and support of families affected by genetic conditions.

cyndiCynthia Frank, Director, Patient Advocacy & Meetings, Nat’l Gaucher Foundation

Cyndi is a long-standing member of the Gaucher community and has participated in many clinical trials to help get treatments to market.  She is an NGF Mentor and advocate for Gaucher patients and raising awareness through speaking at conferences, meetings and events, including NGF and other rare and genetic disease-organization meetings, LSD symposiums, and industry and pharmaceutical conferences and educational events.  She serves on multiple boards and committees for many organizations, including the Global Genes Advocacy Leaders Group and the NGF’s Gaucher Advisory Group.

jmillsJanet Mills, Trustee and Patient Advocate, cureCADASIL Association

Janet is often the first point of contact when a new patient is diagnosed with the rare genetic disease CADASIL. She serves on the Board of Trustees of cureCADASIL, and she networks with others in the rare disease community online and at  events. She recently spoke about the genetics behind CADASIL on a Los Angeles radio show. Janet has provided content for two RARE Toolkits, is a guest blogger for the RARE Daily, and has participated in the Global Genes Advocacy Advisors Group.

MichelleFoxMichelle Fox, MS, LCGC, Genetic Counselor Consultant, Invitae

For over 30 years, Michelle coordinated the UCLA Genetics Clinic, providing genetic counseling services to both pediatric and adult populations, including the UCLA Predictive Huntington Disease Testing Program, early onset Alzheimer, and genetic neurodegenerative disorders. Her expertise is both on the provision of clinical services and clinical genetic research in the areas of newborn screening, carrier screening, diagnostic testing, and predictive testing.

A focus of Michelle’s work has been on the ethical issues surrounding the provision of genetic services, shared decision making in offering genetic testing, and best practices in communicating genetic information. Educating the public and providers about genetic testing is the mission of Michelle’s professional career. Michelle is currently providing consultation services to organizations, laboratories, and businesses including Invitae.

Moderator:
Danny_LevineDaniel Levine, Founder & Principal, Levine Media Group

Daniel Levine is an award-winning business journalist who has reported on the life sciences, economic development, and business policy issues throughout his 25-year career. Since 2011, he has served as the lead editor and writer of Burrill Media’s acclaimed annual book on the biotech industry and hosts The Burrill Report’s weekly podcast. His work has appeared in The New York Times, The Industry Standard, TheStreet.com, and other national publications.

The 3 Things That Wreck Your Hormones (Part 3) | Alan Christianson

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When it comes to your hormones, stress is all about the adrenal glands. These are a couple of nickel-sized pieces of tissue that can completely make or break your health. The adrenal glands can be affected by diseases, but this is extremely rare and rather straightforward for doctors to diagnose. It is much more common for the adrenal glands to be free of disease but dysfunctional under a large stress load.

The adrenals are different from your other glands in that they make different amounts of hormones as the day goes on. They release a burst of cortisol to wake us up, and they shut it off at night to let us sleep.

Even when a disease or the aging process is the core problem with your hormones, the adrenals still play a role, and here is why: Hormones don’t really do anything until they go inside of your cells. Each cell has a wall around it that lets in just the right amount of hormones at just the right times.

Think of your cell as a castle wall with a drawbridge that only comes down to those who know the password phrase. The password phrase that lets hormones into your cell is “the cortisol rhythm.” The cortisol rhythm is controlled by the adrenal glands. When adrenal hormones are wrecked, it is important to understand what this means. It doesn’t mean they are unable to make hormones; it means their rhythm is disturbed. This is important because you may read that taking cortisol can help if you have low cortisol. At first, this makes sense and seems to fit the strategy for thyroid disease — if you have too little thyroid hormone, take some to replace what is lacking. The problem is that in the case of adrenal stress, low cortisol is not the result of the adrenals being unable to make cortisol. It is the result of all the parts involved in cortisol production being off in their timing. Putting more cortisol into the system just makes the problem worse.

If taking cortisol is not the answer, then what is?

Read the rest of the article at The 3 Things That Wreck Your Hormones (Part 3) | Alan Christianson.

 

 

YOUR Vote Matters to the Rare Community!

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It’s that time of year again, when the rare disease community looks amongst themselves to identify and nominate agents of change, agents of innovation, and individuals who are working tirelessly on behalf of those affected by one of the 7,000 rare diseases impacting over 350 million people worldwide.

Rare disease activists come from many different disciplines and are usually not recognized for the good work that they are doing. This is our opportunity as a community to come together to celebrate and honor those who are setting higher standards, making significant changes and fearlessly attacking challenges differently.

Join Global Genes in recognizing these incredible individuals by nominating your Champion of Hope today.

All nominees will receive a special recognition gift, and those who win, will be asked to join us in Southern California in September at the Tribute To Champions of Hope Gala. Winners must be available Friday, September 25 and Saturday, September 26.

 

We are looking to YOU to nominate individuals and organizations who are making a difference in the Rare Disease Community!

 

The 2015 Community Nominated Awards 

for the Tribute to Champions of Hope Gala are until April 30th!  

 

 The six nomination categories are:

 

·         RARE Champion in Medical Care & Treatment

·         RARE Champion in Science

·         RARE Champion in Advocacy

·         RARE Champion in Teen Advocacy

·         RARE Champion, Collaborations in Advocacy

·         RARE Champion, Collaborations in Science & Technology

For more details on each award, please click here.

Nominations close on April 30th.  Awards will be determined by nominees’ merit, not by number of submissions.

 Nominate here

 

The 2015 Tribute to Champions of Hope Gala will take place September 26th at the Hyatt Regency Resort & Spa in Huntington Beach, CA. Winners will also be expected to attend an afternoon ceremony on September 25th.

 

Please email any questions or comments to Amy at amyg@globalgenes.org

 

Global Genes is a 501(c)(3) nonprofit organization advocating for rare disease globally.

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