A Thanksgiving Message from NORD

NORD has put together a wonderful short video giving thanks for everyone involved with rare diseases - including us patients. Check it out - it's nice to know they are there for us!

http://rarediseases.org/news-events/message-of-thanks

Happy Thanksgiving everyone! 

We also are very grateful to know each and every one of you!

Handprints on the Hill

Today is Rare Disease Day! Today we recognize the millions of people in the United States and globally who are living with rare diseases. We show that we are united across the globe, across diseases, and across experiences. Together, our voices are united in support for each other and for the entire rare disease community. NORD has received a letter from President Obama about Rare Disease Day, which begins as follows: "I send greetings to all those observing Rare Disease Day. View the letter >

Submit a Letter to Your Representatives Click on the image above or follow this link to submit a letter through the Handprints on the Hill campaign. It takes just a few minutes to electronically send a message to your Representatives that rare diseases are important to you! Join your voice to the rare disease community to show that you vote and you care about rare diseases. Then encourage your friends and family to submit a letter! This is a 24-hour campaign specifically for Rare Disease Day. Submit a letter today >

Send Us Your Handprints

Rare Disease Day 2013

As Rare Disease Day Approaches, Patient Advocates Celebrate 30 Years of Collaboration But Worry About Looming Budget Cuts

On 30th Anniversary of Orphan Drug Act and NORD, Rare Disease Patient Advocates Fear That Budget Cuts for FDA and NIH Will Slow Momentum

 

Washington DC, Feb. 26, 2013----On Thursday (Feb. 28), millions of people around the world will be observing Rare Disease Day and this annual observance has special significance for Americans this year for two reasons.

 

The first is that 2013 is the 30th anniversary of the Orphan Drug Act -- landmark legislation made possible, in part, by a coalition of patient advocates who also established the National Organization for Rare Disorders (NORD) at the same time.

 

The second reason is that across-the-board budget cuts for federal agencies including the National Institutes of Health (NIH) and Food and Drug Administration (FDA) are scheduled to take place on March 1, with the potential for major impact on rare disease research and the development of treatments.

 

"NORD feels that the rare disease community is on the cusp of a major new era. But we're worried that the looming budget cuts may derail that process," says Peter L. Saltonstall, NORD's president and CEO.

 

"Enormous progress has been made in recent years on both the research and regulatory fronts," he adds. "But budget cuts at NIH and FDA could have a very harmful effect on the current momentum."

 

In particular, NORD is concerned that initiatives such as "translational research" programs at NIH to bridge the gap between promising early research and clinical trials, and implementation of the FDA Safety and Innovation Act (FDASIA) of 2012, could be delayed.

"FDASIA includes many provisions of great importance to the rare disease community," Saltonstall says. "It would be a serious loss for FDA not to be able to implement it as planned."

 

For these reasons, NORD sees Rare Disease Day as an important reminder of the need to address the challenges people living with rare diseases endure. These include diagnosis delay, too little research, too few treatments, and limited access to treatments.

 

Many people with rare diseases go for years without getting an accurate diagnosis. Only a few hundred of the nearly 7,000 diseases considered rare have FDA-approved treatments. And people affected by rare diseases often feel isolated and abandoned.

 

About two-thirds of the 30 million Americans with rare diseases are children, and the diseases tend to be serious and lifelong. In the U.S., any disease affecting fewer than 200,000 Americans is considered rare.

 

Rare Disease Day is observed around the world on the last day of February each year. As the national sponsor in the U.S., NORD works with organizations in other countries to plan activities each year. To see what's planned U.S. this year, go to www.RareDiseaseDay.US. To see what's happening around the world, go to www.RareDiseaseDay.org.

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Visit NORD's interactive timeline for the 30th anniversary of the Orphan Drug Act and of NORD.

News Flash!

Dr. Herbst will be going to Sweden to give a talk on Dercum's Disease and work with other investigators and clinicians sometime in May/June. (Dates to be announced later.) Watch our site for more details. What an exciting opportunity for her to share her knowledge with others!

 

 

Please help her continue to learn more through research by donating to our fundraiser for the Dercum's Research Survey Project. Details are below along with the link to donate.

I'm excited to tell you about a new way we can help Dr. Herbst and ourselves!

Dr. Herbst has a project in mind that could begin soon. How many of you have read her article "Adiposis Dolorosa Is More Than Painful Fat"? That article helped us learn what symptoms are common with Dercum's Disease. Great information! But it was based on a survey done more than 5 years ago. Wouldn't it be great to not only get an update but to actually be a survey participant?

Dr. Herbst estimates that it will take $1500 to pay assistants to do mailings, enter and validate the data and do some preliminary analysis.

We can help by donating toward that effort! Cure Dercum's is organizing this and will keep track of all donations and donors. The money raised (minus paypal fees) will go directly to Dr. Herbst's research fund at the University of San Diego and will be earmarked for this project. Any extra money received will be saved for the next project. Periodic updates will be posted on the Cure Dercum's site. Once the money has been raised, an invitation to partcipate in the survey will be posted on our site and on facebook. If you were in the original survey, Dr. Herbst will attempt to contact you directly. If you were in the original survey and your contact information has changed, please contact her directly at kaherbst@gmail.com.

Donations can be made through the link on our site. If you are not able to use paypal but would still like to donate, contact me at damuffett@aol.com and I will give you some options or go to www.lipomadoc.org. (If you donate that way, please let me know so we can keep track of the donors for this project.)

Let's make this happen!

Diane

Please let FDA know about our fat disorders!

From Dr. Herbst:

 

DearMembers:

Below is information about an FDA initiative. Thirty-nine diseases are in consideration for priority and 20 will be selected. This has a Nov. 1 deadline!

As part of its commitment under the recently approved Prescription Drug User Fee Act (PDUFA V), the FDA will be conducting an initiative, called the patient-focused drug development initiative, to provide for a more systematic approach to obtain the patient’s perspective on the disease severity and the currently available treatments. The intent is to ensure a thorough understanding of the severity of the treated condition and the adequacy of the existing treatment options.

Dercum’s disease is NOT on this list!!

HOWEVER,

The FDA is also interested in public comment on disease areas that are not represented on this preliminary list. The Agency used several criteria to develop the preliminary list of potential disease areas. FDA requests that when proposing additional disease areas for consideration, please describe how you applied the identified criteria in making recommendations for additional disease areas to consider.

These criteria include the following:

• Disease areas that are chronic, symptomatic, or affect functioning and activities of daily living;
• Disease areas that reflect a range of severity;
• Disease areas for which aspects of the disease are not formally captured in clinical trials;
• Disease areas that have a severe impact on identifiable subpopulations (such as children or the elderly);
• Disease areas that represent a broad range in terms of size of the affected population; or
• Disease areas for which there are currently no therapies or very few therapies, or the available therapies do not directly affect how a patient feels, functions, or survives.

FDA will consider the public comments received at the public meeting and through the docket and post the set of disease areas for FY 2013-2015 on the FDA Web site. By the end of FY 2015, FDA will initiate a public process for determining the list of disease areas for FY 2016-2017.

This is an excellent opportunity to help the FDA better understand how fat disorders affect patients. Your support is essential to ensure that your fat disorder is considered in the future as a selected disease.

Please send your comments in by November 1 to ensure that the FDA understands why your fat disorder should be selected. As you write your own letter, make points that reflect how your fat disorder meets the criteria above.

Comments should be submitted electronically at:

http://www.regulations.gov/#!docketDetail;D=FDA-2012-N-0967

Select ‘Individual Consumer’ for the ‘Category’ and ‘None’ for ‘Organization’ if no other choice is appropria te . Written comments can be submitted to the Division of Dockets Management (HFA-305), Food and Drug Administration, 5630 Fishers Lane, Rm. 1061, Rockville, MD 20852.

Further information on the patient focused drug development initiative and the list of 39 diseases initially nominated can be found here: https://www.federalregister.gov/articles/2012/09/24/2012-23454/prescription-drug-user-fee-act-patient-focused-drug-development-public-meeting-and-request-for

Sample Letter – limited to 2000 characters

To: FDA Patient Focused Drug Development Initiative

From: <include your name here>

I am writing to request that Dercum’s disease (also called adiposis dolorosa) be included as one of the diseases in the patient focused drug development initiative.

Dercum’s disease is a complex, chronic pain disorder that was initially identified in 1888 as a lipomatous disorder of unknown etiology. Dercum’s disease can affect people of all ages with an average age of onset of 35 years. People have similar signs and symptoms of fibromyalgia but have exquisitely tender fat nodules that cause them to take pain medications including opiates and intravenous lidocaine. It affects over 300,000 children, men and women in the US of all races and income levels. Over 60% of people with Dercum’s disease become disabled losing their jobs, spouses and friends. Dercum’s disease is inherited in an autosomal dominant disorder according to a paper in the New England Journal of Medicine.

What is tragic is that over 100 years, there have been no clinical trials for drugs to treat Dercum’s disease and there are still NO approved treatments and NO biomarkers or outcome measures and NO identified gene.

<Include personal story here>

By ensuring a thorough understanding of the severity of Dercum’s disease from a patient perspective, especially given the lack of any viable treatments to change the course of the disease, the patient focused drug development initiative could make a tremendous difference in the lives of a huge number of people.

NORD Launches New Blog for Entire Rare Disease Community

NORD Press Release

NORD Launches New Blog for Entire Rare Disease Community

Topics to include public policy, research news, patient experiences, and innovative ways to drive progress

WASHINGTON DC, OCTOBER 18, 2012-----The National Organization for Rare Disorders (NORD) has launched a new blog to cover topics of interest to the entire rare disease community. Called "Rare Disease Dialog", it can be accessed from NORD's home page (www.rarediseases.org) or directly at http://blog.rarediseases.org.
"We'll cover 'hard news' related to developments on Capitol Hill as well as the softer side of the news, with personal reflections from members of NORD's staff and guest bloggers about their experiences with rare diseases," said NORD President and CEO Peter L. Saltonstall.
"Everyone is welcome to post comments on the blog," he added. "While basic guidelines are in place to ensure a civil, respectful discussion, otherwise no topic is off-limits and all comments will add to the richness of the dialogue."
New posts will be added several times a week, and visitors will be encouraged to comment on posts. Topics to be covered in upcoming posts include:

• the looming "budget cliff" and how it may impact rare disease patients
• implementation of insurance reforms in the Affordable Care Act and rare disease provisions in the FDA Safety and Innovation Act
• innovative work by patient organizations and others to encourage the development of treatments for rare diseases
• how to get involved in Rare Disease Day 2013, which NORD sponsors nationally

RI Golf Tournament & Some Interesting Things in the Works

Last Saturday, October 6th, was the 5th Annual Barbara Croker Golf Tournament. There were over 120 in attendance (over 90 of them golfers) and it was the first year the event had a corporate sponsor, McShawn’s Pub of Cranston, Rhode Island, and many individuals and local companies that sponsored a hole and donated items and gift certificates for the raffle. 

 
As always the Rhode Island Dercum's Fundraiser group did an excellent job.  There is a lot of time and energy the committee puts in to get this event up and running every year and many of you will never know the people who do this as a labor of love for their friend and/or family member, Barbara and in turn for all of us suffering from this disease, but we all owe them a bit of gratitude for all they do.  After 3 years of attending the events RIDF puts on, it still amazes me how well they are organized and how much work they are all willing to do to get the job done. 
 

This all being said, there is always a point where I start to get teary eyed and it is usually when all the kudos are going out or when Barbara gets up and talks (and thankfully did not make me get up there with her this time – thanks Barb!). This time, I think I was having a little more emotion throughout the event because I realized just how much all these people who are not directly affected by our disease are so willing to help out and the human connection that is out there if we just open our eyes and hearts.

 
OK, enough sappiness.  Let’s get down to business.  Our biggest advocate, Dr. Karen Herbst, got up and spoke.  She talked about some of the things she touched on a year ago and probably spoke about at the conference but there are a couple of things in the works that are helping her indicate more about this disease. 


She spoke (and there was a great banner with all the information up) about the imaging that took place in Texas on 3 woman with Dercum’s.  The imaging was done with using NIRF (near-infrared dye – to read more about this check out this link: 

http://uthealth.technologypublisher.com/files/sites/p62-64_eva_sevick.pdf)


Using this method, they were able to look at how the lymphatic system was working (or in DD’s case not-working).  The study is yet to be published but when it is we’ll be sure to get the link up.

 
Also, there has been some updated in the genetic testing of two families that have known genetic link of DD.  Dr. Herbst said that there were many genes that the DD connection could be on and she was given a list of them to go through.  She wants to be thorough and make sure she misses nothing so this will be a long process.
 

Best wishes, Dr. H and thanks for all you do. If I got anything wrong, go light on me, I have DD J
.

A Warning About Eye Care and Dercum's Disease

Thanks so much to      Lisa La Bruyere Moon   for sharing this information on Facebook.

To all my DD bros and sistas, get your eyes checked ASAP. Apparently the vascular complications cause Lattice Retinal Degeneration. I was having vision problems and thought that I was diabetic. After pancreatic procedure blood sugar leveled out so my doc sent me to eye doc. Had holes in retina and nerve tissue behind eyes. Had laser surgery to prevent further deterioration. Hopefully this will prevent retinal detachment and blindness.


Me - I've already had a retinal detachment and a cataract starting so I agree - make sure you get your eyes checked regularly!

News about Swedish Dercum's Research

Thanks to FDRS for sharing this information!

Swedish Researchers Rally for Dercum’s Disease
On May 11, 2012, seven patients with Dercum’s Disease joined Dr. Ola Winqvist and colleagues at the Karolinska Institute in Stockholm. Dr. Winqvist spoke in depth about the immune system and its involvement in Dercum’s Disease. Importantly, he described a specialized column that clears inflammatory cells from the blood – a possible treatment for Dercum’s disease in the future.
Dr. Olle Haglund gave an overview of Dercum’s Disease and provided advice on diet, supplements and life style. He also addressed the Cyclic Variations in Adaptive Conditioning™ (CVAC™) process as a means for reducing pain, how to use lymph therapy to improve lymph flow, and cardiovascular stiffness.

Dr. Winqvist completed an analysis of some aspects of the immune system in the blood of people with Dercum’s disease who have Type II, or widespread affected tissue with small nodules in the fat, by fluorescence assisted cell sorting (FACS). He also wanted to examine the immune system in people with Type III, who have larger painful lipomas, often in the absence of obesity.

The patients with primarily Type III Dercum’s Disease who attended the meeting provided blood to Dr. Winqvist for further analyses. All of the people with Dercum’s disease shared their stories and found they had a lot in common. Many people noted their lipomas started after an infection or trauma.

FDRS helped to recruit people for this meeting and will continue to support research in all RADs across the globe. We want to give special thanks to Staffan Erickson who worked tirelessly to encourage people to attend this meeting and Staffan’s girlfriend, Amielyn Garcia-Manzano, for taking pictures at the event.

Swedish Dercum’s Study Participants Needed

Ola Winqvist MD, PhD at the Karolinska Institute in Stockholm, Sweden needs patients with Type 3 Dercum’s Disease to participate in a blood draw. Type 3 Dercum’s consists of larger, very nodular lipomas, is often found in the absence of generalized obesity, and is the type most men have. Dr. Winqvist has already studied Dercum’s Type 2, so it is important to ascertain that you have Type 3 Dercum’s. If you think you qualify, please contact Dr. Karen Herbst at kaherbst@gmail.com.

Results of the "Handprints on the Hill" campaign

A big thanks to everyone who participated!

 

24-Hour "Handprints on the Hill" Campaign

More than 16,000 letters were submitted to elected officials through our 24-hour "Handprints on the Hill" campaign. This campaign was widely shared through the social media. Letters were submitted by people in all 50 states, with the highest participation in New York and California. Approximately 2/3 of the participants added their own information to personalize the message. Several patient advocates received responses from their officials.

Send a Rare Disease Day Message to Congress!

24-Hour "Handprints on the Hill" Campaign

For 24 hours on Rare Disease Day, you can send an email to President Obama, your representatives in Congress, your governor, and your state legislators through the NORD website, the Rare Disease Day US website, or the Rare Disease Day US Facebook page. It's quick and easy. Anyone can do it. Just use the basic text we'll provide that applies to the entire rare disease community. Personalize it with your own hopes or concerns. Enter your zipcode, and click to submit. You'll receive a "Handprints on the Hill" badge that you can share on Facebook or elsewhere to tell your friends you participated in this campaign. Watch for this from midnight Feb. 28th to midnight Feb. 29th!

 The link to send the message is  http://rarediseaseday.us/take-action-now/handprints-on-the-hill/

Rare Disease Day Letter to the Editor

Rare Disease Day is Feb. 29th. An easy thing you can do to make people aware of Dercum's Disease is write a letter to the editor of your local paper to be posted that day. You can usually find the address on the editorial page or online at your paper's site. Every letter that is published will be read by many and help to spread the word! Don't stop with your local paper - contact as many as you can!

If you need an example to give you ideas of what to say, I will include one below. It's the one I've used for the last two years. Feel free to modify it for yourself. Let's get the word out!!

Rare Disease Day is February 29

I would like to let readers know that today is a special day - a day used in many countries around the world to focus on rare diseases as a public health issue.

Nearly 30 million Americans (about 1 in 10) have rare diseases. Chances are you know someone with a rare disease. In the U.S., a disease is considered rare if it affects fewer than 200,000 people.

Some rare diseases, such as Lou Gehrig's disease (ALS), are well known. However, many others are not, and you can imagine the loneliness of having a disease that most people have never heard of, that has no treatment and that is not even being studied by any medical researchers.

I have Dercum's Disease -- a disease that is often disabling and painful. It was discovered more than 110 years ago, yet it still has no identified cause or cure and almost no research is being done. I cohost a blog at curedercums.blogspot.com where we share information with other Dercum's patients about how to learn to live with our changing bodies along with the lack of doctors who are familiar with Dercum's and the frustration over not knowing what might help us.

Like us, people with rare diseases often have trouble accessing the services they need because those making the decisions are not familiar with their diseases. Spreading information is the key to future help.

I encourage you to visit the U.S. Rare Disease Day Web site at www.rarediseaseday.us and help me spread the word.

We are a Rare Disease Day partner!

Watch for details on how you can participate. We'll be posting them soon!

Living With Rare Diseases

According to NORD:

"People living with rare diseases often display unusual courage, tenacity, and grace in dealing with extraordinary challenges."

I've always loved their motto:

National Organization for Rare Disorders Calls for Policy on Products for Rare Diseases

Washington DC, Sept. 7, 2011----The National Organization for Rare Disorders (NORD) has submitted a Citizen's Petition to the Food and Drug Administration (FDA) requesting that a documented policy be established regarding the review of potential treatments for people with rare diseases.

NORD's request is being made in conjunction with a report submitted by an FDA committee to Congress on June 27, 2011: Improving the Prevention, Diagnosis and Treatment of Rare and Neglected Diseases.
While expressing concern that currently no policy specific to orphan drugs exists, NORD praises FDA's history of flexibility in the review of "orphan" (for rare diseases) products, noting that rare diseases present special challenges to researchers seeking to develop therapies.

"Today, most of the nearly 7,000 rare diseases do not have FDA-approved treatments," said Peter L. Saltonstall, president and CEO of NORD, a nonprofit organization representing the one in 10 Americans affected by rare diseases. "Basic research and clinical trials needed to develop treatments for these diseases are complicated by the fact that there are few patients and they are geographically dispersed."

Saltonstall said that "NORD recognizes and applauds FDA's historical flexibility in the regulatory review of submissions for articles that treat rare disease." Now, he added, NORD is asking for FDA documentation to guide future drug reviews and specifically to:

• acknowledge that clinical trials for most orphan drugs are fundamentally different from trials for drugs for common conditions
• acknowledge that FDA review of orphan drugs is therefore different from the review of other products
• document that, while the need to demonstrate both effectiveness and safety remains unchanged, it will now be official FDA policy to apply special flexibility in the review of orphan drugs

The Citizen's Petition asks that this statement of policy be included in a guidance document that FDA is required by Congress to issue no later than 180 days following the submission of the June 27 report. The Petition also formalizes a request that NORD has made informally on previous occasions, including in testimony by the chairman of NORD's board of directors last summer at an FDA public hearing.

At that hearing, NORD Board Chair Frank Sasinowski presented testimony on the fact that so many rare diseases still have no treatment. He said NORD feels that the "low-hanging fruit" have now been harvested by medical researchers but that "the vast majority of therapies" remain out of reach of patients with rare diseases. Many of those patients, he added, are children suffering with chronic and lifelong genetic diseases.
Sasinowski noted in his testimony that focus groups and other studies conducted by NORD had identified uncertainty in the review process as a deterrent to the development of treatments for rare diseases.

Saltonstall said that NORD's request for a documented FDA policy on review of orphan drugs is consistent with a report issued last October by the Institute of Medicine, Rare Diseases and Orphan Products: Accelerating Research and Development.

Citizen Petitions may be submitted to FDA by individuals or organizations requesting specific actions to issue, amend, or revoke regulations. In this case, NORD is asking that a specific policy related to orphan drugs be included in the guidance document that FDA must issue no later than December 27, 2011, following the June report to Congress.

The June report was submitted to Congress in response to legislation, specifically Section 740 of the Agriculture, Rural Development, Food and Drug Administration, and Related Agencies Appropriations Act, 2010 (P.L. 111-80).

NORD was established in 1983 by patient advocates seeking to enhance awareness of rare diseases and to improve the lives of those affected. Today, NORD provides services that include advocacy, education, research grants, and patient assistance programs. It represents more than 150 disease-specific member organizations, as well as all individuals and families affected by rare diseases. NORD's website is at www.rarediseases.org.

Do You See "You" Everywhere?

Now that you know you have Dercum's and, if you're like me and many others, lipedema, do you find yourself viewing the world differently? Are you more aware of body shapes than you ever were? See people who look a lot like you?

I'm finding that to be true for me and pretty common for most of us judging by the comments I've gotten. I see people like me everywhere! More women than men but I do see both. The top and bottom being out of proportion is the telling sign of lipedema and often Dercum's. In fact, one of Dr. Dercum's early pictures of a person with Adiposis Dolorosa shows the Rubenesque figure.

I've been certain for some time that there are way more of us than are diagnosed. How many of them have no idea why their body looks that way? How many are suffering the mental anguish as we did and often still are? It's rather mind boggling.

One of the things we hope to do at Cure Dercum's is put together some materials and start getting information out to medical professionals. But we're new and we're cash poor so it will take some time. Just know we will be working on that! In the meantime, we personally take every opportunity to educate and encourage you to do the same. The more people who know, the more people who can be diagnosed and helped.

Take care!