You Are the Expert

Aside

Congressman Tim Murphy of Pennsylvania has a message for the cystic fibrosis community: members of Congress want to know the issues and problems that people with CF face. “No one knows these issues better than you.”

He’s absolutely right. That’s why it’s so important that you join Make Every Breath Count.

 

Sign up for Make Every Breath Count

Make Every Breath Count is the CF Foundation’s national advocacy campaign, during which advocates like you inspire action in our fight against CF by meeting with their members of Congress in their hometowns.

You can help ensure that we are able to continue vital CF research, that new therapies are approved quickly and safely, and that people with CF have adequate coverage to go to their care center and access their treatments.

Congressman Murphy says it best: elected officials are “depending upon you to be the ones to tell us” about these important issues. You are the expert.

It’s easy to get involved and we will help you every step of the way!

Thank you for all that you do. Together, we will continue to make a difference in the lives of all people with CF.

Sincerely,

Cystic Fibrosis Foundation
publicpolicy@cff.org

Support the CAL Undiagnosed Diseases Research & Collaboration Network Act

Source: The Global Genes Project

By Heather Long

During the week of April 9, 2013 Representative John Carter (TX-31) is planning to re-introduce my son’s bill – The CAL Undiagnosed Diseases Research & Collaboration Network Act.Image

Prior to the re-introduction, other House of Representatives members are being sought to sign on as original co-sponsors. The more Representatives that sign on as original co-sponsors, the better. Please contact your Representative in Congress and tell them that you want them to be an original co-sponsor to Cal’s Bill and urge them to contact Representative John Carter’s office.

If you don’t know who your U.S. Representative is, go to http://www.house.gov/ and typing your zip code in the box at the top right hand corner labeled “FIND YOUR REPRESENTATIVE.”

One of Heather Long’s three children (Cal) passed away in 2006 at five years old to an undiagnosed disease. Heather was told that her son’s death was likely caused by a very rare metabolic disease, and she has since focused her energies on being an advocate for patients suffering from undiagnosed and rare diseases.

In 2008, Heather co-founded a nonprofit organization, U.R. Our Hope., that assists individuals and families who are on the journey of finding a diagnosis or are navigating through the health care system after a rare diagnosis. In 2011, Heather co-authored H.R. 2671- The CAL Undiagnosed Diseases Research and Collaboration Network Act, which was proposed in the 112th Congress and is scheduled to be re-introduced during the current 113th session. And recently, Heather proudly joined the Global Genes Advocacy Leadership Group.

The Irony of Cottage Cheese

Dr. Ricki Lewis, author of The Forever Fix, and rare disease blogger, shed light on a sad truth about modern priorities in her latest post, Treat Cellulite, or Rare Diseases? The post describes a revolutionary new procedure that drastically reduces the appearance of bulging, uneven fatty tissue predominantly seen in women in the area of the thighs. This is also often refered to as a person having “cottage cheese” thighs. Dr. Lewis finds it shameful to think that there are many thousands of children suffering from many different rare diseases while people are paying over $2500 (American) for a procedure to reduce the fatty lumps on their legs. This article illustrates a truly tragic irony: money for research doesn’t always go to the most noble cause, but usually to the one which is most popular. Enjoy the post.

“Next, news that all women will want to hear!” teased the commentator on the increasingly imbecilic Today Show.
Soon I learned that, finally, we womenfolk need no longer suffer from the “horrible, dimpled ‘orange peel’ skin” of cellulite. The new miracle cure sounded like “cellulase,” an enzyme that breaks down wood.
Googling, I soon discovered that “Cellulaze” is instead a new laser technique that “pinpoints and disrupts dimpled pockets of herniated fat” and melts away the collagen cords that hold in place the vile lipid, while promoting formation of new collagen and elastin.  It joins a long list of cellulite remedies, including sound waves, radio waves, massage, retinol, red algae patches, and extracts from licorice roots, horse chestnut, and kola. The market is $2.3 billion.

The horrors of cellulite. (Photo credit: Cliff Lewis)

Those selling cellulite cures call it “a modern epidemic,” but the fact that 85% of postpubertal women have cratered thighs suggests that the condition is normal. Actually, cellulite is more common in women due to differences in the pattern of collagen fibers in the fat beneath the skin: in men it’s a network, but in women the fibers align longitudinally, pushing bulging adipocytes up into the dermis. The difference may be Darwinian, a fat-storing adaptation of pregnancy.
One can diagnose cellulite with a “pinch test,” and then classify oneself using the Nurnberger-Mulle scale of advancing decrepitude. A stage 0 butt, thigh, or hip has inoffensive folds but no “mattress-like appearance,” whereas the dread stage 3 brings “spontaneous dimpling.”
Intrigued, I checked out Cellulaze. On the Patent and Trademark Office website I found two entries: a composite material, and cereal by-products. I had better luck with the FDA. The agency approved Cellulaze as a medical device in January 2012. It hails from Westford, MA-based CynoSure. Next I tracked down the article in the Aesthetic Surgery Journal describing the device, the invention of Barry DiBernardo, MD, of Montclair, NJ.
Dr. DiBernardo conducted the clinical trial for the “laser lipolysis” in his own clinic. Into one dimpled thigh of each of ten women, he slipped a fiberoptic tube bearing a laser that emits energy both straight ahead and to the side, an innovation called “side-firing technology.” The invasiveness – 4 small cuts — is what sets this anti-cellulite laser apart from earlier ones that simply shine light from the outside. I envisioned lifting the skin on a chicken and scraping out the fat below as I read the journal description: “When laser treatment was completed, the liquefied adipocytes were removed by gently squeezing the incision-point tissue.”
Judging from the ten human thighs displayed in the paper, photographed next to their untreated control mates, Cellulaze works, and the effect lasts at least a year. The procedure takes a little more than an hour, and the patient stays awake and recovers quickly.
But getting your cottage cheese deposits zapped away isn’t cheap – it costs $2,500 a “spot,” whatever that means. One plastic surgery practice on Park Avenue offers a “virtual consultation,” which evoked YouTube images of butt scans on copiers.
The more I thought about cellulite and its $2,500-a-pop treatment, the madder I got. That’s because since writing my book about gene therapy, The Forever Fix, I’ve met, on Facebook and in person, many families raising funds to help develop treatments for their children, all of whom have diseases so rare that they can’t wait for pharma to take an interest. So I have a suggestion.
Every post-pubertal woman considering spending thousands to blast away cottage cheese deposits should instead send the money to Hannah’s Hope Fund, or Canavan Research Illinois, or Families Curing Retinal Blindness Together or the Cystinosis Research Foundation, or any of the organizations listed at CheckOrphan or the National Organization for Rare Disorders.
The world is full of medical conditions much more serious than cellulite.”

To learn more about Dr. Ricki Lewis, click HERE.

To visit Dr. Lewis’s Blog, click HERE.

Dr. Lewis’s Twitter:  @rickilewis.

A Chat With Rare Disease Advocate Ed Fennell

Source: healthworkscollective.com

Last week I had a fascinating phone conversation with rare disease advocate, Ed Fennell. Full of energy, he is helping to care for 2 young granddaughters – each with a rare disorder.

Hayley, who is now 6 years old, had her first seizure at 6 weeks old. It took 2 years for the family to get a diagnosis of CDKL5 Atypical Rett Syndrome. Hayley has very few physical illnesses, but has severe developmental delays. Fennell is hopeful that she will be able to communicate 1 day using eye gaze technology.

Two-year-old Emily lost 98% of her small intestine and has Short Bowel Syndrome. She has a permanent IV line, parenteral feeding and ileostomy bag. Emily is thriving, but they are constantly on guard for infection.

Fennell is mostly retired after a 35-year career running a private consulting business on labor issues. He now spends his days helping to care for his 2 granddaughters. When Hayley started school last year, Fennell found himself with time on his hands. Instead of relaxing, he decided to take action. He wrote a letter to the local teaching hospital, Albany Medical Center, that described the importance of rare disorders and that the hospital should get involved. “I described how rare disease families wait too long for a diagnosis, don’t know where to go for care and need to be handled with greater efficiency,” said Fennell. He proposed engaging the rare disease community with the hospital and holding an event on Rare Disease Day.

To his pleasant surprise, Albany Medical Center responded with a budget and resources. They created Albany Medical Center’s first forum for rare diseases on February 28, 2013. Held at the hotel connected to Albany Medical Center, more than 85 people attended including: rare disorder patients/caregivers, special ed staff from local schools, early intervention specialists, public health nurses, reps from advocacy groups and 6 physicians. “This diverse and excited group felt we had started something unique,” explained Fennell. “The decision to collaborate with the medical center was innovative and getting their support was key.”

The next challenge
“My next goal is to expedite the diagnostic process for rare disorders at Albany Medical Center and within the region,” said Fennell. “When doctors find something mysterious they shouldn’t presume it’s not a Zebra. They should try the new rare disease search engines, like FindZebra.com. They shouldn’t hesitate to get their patients appointments with national centers of excellence for a consult.”

Fennell described the importance of getting a diagnosis, “We need a diagnosis so we can get introduced to other people dealing with similar circumstances. You then become part of that family.”

“I also want to help coordinate the ongoing, long-term chronic care administration of services for rare disease families at Albany Medical Center,” noted Fennell. “Over time, we learned how to do this with our children and I want to help others get fast tracked.”

Anyone who is interested in learning more can contact Fennell via email at efennell43@gmail.com.

Authored by:

Eileen O’Brien

Eileen has more than 16 years of digital healthcare marketing experience. Working at Siren Interactive, she focuses on the rare disease and orphan drug niche within the pharmaceutical industry.

Twitter makes me a better doctor: 4 reasons why I use Twitter

By Brittany Chan

twitter doc

Even as social media use among physicians gains popularity, I continue to hear doubts echoing from my fellow medical students, residents, and attendings, particularly about the use of Twitter.

Many of them ask how using Twitter has benefited me, and my answer almost always makes them stop and think.

My life has been enriched by the network of intelligent and forward-thinking people I have connected with on Twitter–many of them medical students, doctors, nurses, pharmacists, or other professionals who have made the leap into social media.

I have become a more well-rounded person and a more knowledgeable and confident future physician–and I’ve learned so much.

Why should medical professionals consider joining the Twitterverse?

The following are just a few reasons.

Stay up to date on news and literature. Doctors (and med students!) are busy and don’t always have time to seek out what’s happening in the world. Twitter conveniently brings news and research directly to your feed.

As a medical student and future pediatrician, I follow accounts of official medical associations, such as the AAP (@AmerAcadPeds) and AAMC (@AAMCToday), leading medical journals, including JAMA (@JAMA_current) and The Lancet (@TheLancet), as well as several different kinds of physicians who frequently tweet interesting new articles.

I first learned about last year’s pertussis epidemic in Seattle on Twitter, and have followed tweets about this year’s flu throughout flu season. I frequently stumble upon studies that may help me in practice; last week I learned that cefdinir and iron-supplemented infant formulas may cause non-bloody red stool when taken together. I also follow various media news outlets, such as CNN, The New York Times, and The Wall Street Journal to keep up with current events.

Share ideas and learn from others. Twitter is an open forum of conversation for the world. In my opinion, this is the most valuable use of Twitter.

I follow people who tweet about things that interest me, both medically related and not. As a medical student, I’ve used Twitter as a study tool, asking questions and gleaning knowledge from physicians, residents, and other students. I listen and converse in various tweet chats, such as the mobile health (#mhealth), healthcare social media (#hcsm), and medical education (#meded) chats. I hear patients share their stories and follow blogs.

Some of my favorite blogs are written by parents of children with special needs. NoahsDad.com is a fantastic blog about Noah, a beautiful boy with Down Syndrome. The post of his birth story brought me near tears and provided an intimate look at his parents’ reaction to his diagnosis. I learned what they liked and disliked about their doctors’ delivery of the news, and how much they loved their son.

Blogs like this have given me a new perspective on this special families’ challenges and triumphs. This will undoubtedly help me care for my patients with special needs in the future.

Help patients. This does not mean doctoring patients on the Internet, following my patients on Twitter, or anything of the sort. Patients are online, though, and many are on Twitter. As medical professionals, we can help disseminate accurate health information on the web. Twitter provides a great avenue for physicians to steer people to reputable websites for health information, dispel myths, share helpful articles, and educate people on medical issues.

For example, I tweet and retweet articles from the CDC about vaccines, parenting advice from HealthyChildren.org, and various other health tidbits from academic medical institutions.

It’s fun! Perhaps my favorite reason to tweet is that it’s fun! I love spending time on Twitter. I learn something new every day and read many hilarious or otherwise entertaining tweets along the way. I’ve connected with people I never thought I would, all with a myriad of ideas and opinions. The environment is so dynamic.

Twitter is an exciting mode of communication, and is something I engage in because I enjoy it. If you’re thinking about embarking on your own Twitter journey, but are worried about time commitment, just remember, what you do with it or how much time you spend on it is completely up to you. You don’t even need to be particularly tech-savvy to use it. It requires only the ability to type and click, I promise!

Of course, always be careful what you tweet and use good judgment. While Twitter may not be for everyone, I have found it both personally and professionally rewarding, and encourage all health professionals to give it a spin.

Brittany Chan is a medical student who blogs at iMedicalApps.com, where this article originally appeared.  She can be reached on Twitter @BChanMed.

Make the most out of CheckOrphan

Here we explain all you can do at checkorphan.org in order to make the most out of our services.

News

Stay up to date. A very important feature of CheckOrphan’s platform is the daily news. CheckOrphan is the largest source on the web for rare diseases. Every day we comprise news involving the rare disease community from a great variety of sources and post them on our website.

Expand your network. Send your content to the following email addresses and we will publish them on our website and/or blog:

  • News articles and press releases to news@checkorphan.org
  • Opinion pieces to rare.diseases@checkorphan.org (attn: Blog)
  • Videos to rare.diseases@checkorphan.org

The news articles and press releases will be published on the next edition of our daily Newsletter and reach hundreds of people.

Daily Newsletter

Subscribe and receive our free newsletter every day.

Event Calendar

Submit your events to CheckOrphan to help attract more attendees. Also contact us at rare.diseases@checkrphan.org about our free media partnership to help promote your event more effectively.

Databases

Find more information about a rare disease you are interested in here. CheckOrphan’s rare disease database has nearly 7000 rare diseases. Through each page, we offer information regarding the diseases’ symptoms, available treatments, causes, etc.  Each disease page is also linked to related news, events and research.

Learn more about a rare disease here.

Treatment Database

CheckOrphan also has organizations and treatment databases.

Companies can add their products or update a product page in the treatment section of our website. This section is a window to find treatment options for various diseases.

Link Network – Companies, Patient Organizations, Hospitals, Research Centers and more

Enter your company, association, hospital, clinic, or research institute for more visibility. Here you can submit information about your work and be part of CheckOrphan’s network.

Support & Connect

A great way to support this cause is by Sponsoring a Rare Disease Page or donating any given amount and Become a Champion. Your support makes a real difference.

Where do your donations go?

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We are also very active in different social media platforms. Connect with us to expand our network and create awareness about rare diseases among your friends too.

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Projects & Campaigns

At CheckOrphan, we keep moving and evolving. Be a part of it! We are currently working on Make a RareIMPACT, an ongoing campaign to get as many Rare Disease Pages as possible sponsored.

Aggressive Regimen Reduces Mortality in Drug-Resistant TB

Aggressive drug regimens used to treat multidrug-resistant tuberculosis reduce the risk of death by about 40 percent when they include at least five drugs likely to be effective against a patient’s tuberculosis strain, a retrospective study conducted amid an epidemic of multidrug-resistant tuberculosis (MDR-TB) in Peru has found.

Based on their findings, the researchers concluded that TB policymakers and program directors should consider this aggressive regimen the standard of care as they design and implement treatment programs and regimens, as well as conduct randomized trials, for patients with drug-resistant TB. The results were published March 13 in PLOS ONE.

An MDR-TB patient receives medication in Lima, Peru. Photo courtesy of Partners In Health.

An MDR-TB patient receives medication in Lima, Peru. Photo courtesy of Partners In Health.

“As scale-up efforts are moving forward in the global fight against MDR-TB, it’s important to know that there is a standard, that not just any drug regimen will do,” said Carole Mitnick, HMS assistant professor of global health and social medicine, who led the study. “It is important,” she notes, “that strategies for introducing new drugs should be informed by these findings in order to optimize the effectiveness of regimens, and prevent resistance to the new drugs.”

In the 19th century, TB was responsible for 25 percent of deaths worldwide. Although TB is now largely controlled in the US and Europe, it remains a dangerous disease in poor populations, especially in Africa and Asia and pockets of South and Central America. The curable disease kills some two million people a year, with 500,000 new cases of drug-resistant TB reported annually. The Andean nation of Peru currently faces an epidemic of MDR-TB, with many circulating strains failing to respond to nearly half of the dozen or so antibiotics used to combat the disease, the researchers said.

Evolving resistance

Naturally-occurring drug-resistant mutants appear in large populations of TB bacteria. Treatment regimens that are inadequate through design or delivery select for these drug-resistant mutants and can lead to strains that are no longer susceptible to common drugs. People sick with these TB strains can transmit them to friends and family. If new rounds of treatment do not provide adequate coverage for the drug-resistant microbes, strains resistant to yet more drugs can emerge, the researchers said.

The framework for the aggressive regimen was developed during MDR-TB outbreaks in the United States. To plan a particular patient’s regimen, clinicians need a laboratory to test the bacteria found in a sample of sputum to learn whether those bacteria are susceptible or resistant to each drug tested. Clinicians also ascertain whether the patient has been previously treated for TB, and, if so, with which drugs. Based on that specific profile, the patient will be treated with at least five drugs likely to be effective.

This approach had never been systematically evaluated in the United States because in that country the priority in the face of this lethal, transmissible disease has been placed on treating all patients with the most potent, rather than lower-cost, regimens. Elsewhere in the world, however, there has been greater emphasis on finding less resource-intensive treatments, without systematically evaluating their effectiveness. One often-sacrificed component of TB treatment delivery is the extent to which laboratory testing is used to provide information about drug effectiveness. Without laboratory analysis of each individual’s particular strain of the disease to determine which drugs will be effective, regimen potency is likely to be compromised.

Access to laboratories

The challenge of cost and effectiveness points out the importance of collaboration that seeks to build stronger health systems, the researchers said. While Peru was expanding its own TB laboratory capacity, it established a mutually beneficial exchange program with the Massachusetts State Laboratory Institute in Boston. Clinicians in Peru initially shipped TB samples to Boston for analysis. This enabled the Massachusetts lab technicians to see enough samples to maintain their expert certification in TB strain analysis, and it allowed the Peruvian physicians to create tailored, potent drug regimens for their patients. In subsequent years, Peru has built up its capacity to perform the tests locally.

A biologist in Lima, Peru cultivates mycobacterium tuberculosis for drug susceptibility testing. Photo by Joshua Mitnick.

A biologist in Lima, Peru cultivates mycobacterium tuberculosis for drug susceptibility testing. Photo by Joshua Mitnick.

“Some people want there to be a simple, one-size-fits-all approach to TB, but evolving drug resistance really makes that impossible,” said senior author Mercedes Becerra, HMS associate professor of global health and social medicine. “It’s vital to have a global network of laboratories equipped for and committed to addressing this problem, so everyone everywhere has access to testing”.

 

Aggressive approach

The drug regimens were adjusted periodically to manage side effects during treatment. To qualify as “aggressive,” the regimen needed to include at least five likely effective drugs. If the patient received such a regimen on at least 75 percent of the days in a particular month, the regimen was classified as aggressive. During any month, patients whose treatment qualified as aggressive had their risk of death reduced by about 40 percent. In another recent study, the researchers also showed that, among the MDR-TB patients who were cured, the aggressive regimen reduced recurrence of TB.

Both studies were conducted retrospectively, using data collected from patients who received care between 1999 and 2002 from a consortium, which included Partners In Health, led by the Peruvian National Tuberculosis Program. Peru’s program was built on Partners In Health’s earlier work treating MDR-TB patients in rural Haiti. That program was adapted for Haiti from the successful approach used to cure MDR-TB patients in the United States.

In the early years of Peru’s TB program, the concept of using the aggressive regimen approach was met with some skepticism, the researchers said, noting that there is a lot of debate among global health policymakers about how to use scarce resources in settings with high TB prevalence. Some critics thought that the extra effort of building lab capacity and aiming for aggressive MDR-TB regimens was too much of a luxury. But since the approach had never been evaluated, there was no evidence to judge the value of the work, the researchers said.

“Much of the global policymaking for treating MDR-TB has happened in a kind of data-free zone,” said Becerra, who worked with Partners In Health to help implement the program. “Now we can advance this conversation based on evidence about what specific kinds of regimens have the best chance to actually save lives.”

Contact
Jake Miller
(617) 432-1000

Source: Harvard Medical School