RARE Project » orphan drugs http://rareproject.org RARE disease awareness, support, advocacy, & research Thu, 17 May 2012 21:31:56 +0000 en hourly 1 http://wordpress.org/?v=3.3.2 The Power of Rare Disease Patients http://rareproject.org/2012/02/24/the-power-of-rare-disease-patients/?utm_source=rss&utm_medium=rss&utm_campaign=the-power-of-rare-disease-patients http://rareproject.org/2012/02/24/the-power-of-rare-disease-patients/#comments Fri, 24 Feb 2012 16:27:48 +0000 RAREproject http://rareproject.org/?p=7619 A Guest Blog Post By Wendy White, Founder & President of Siren Interactive

Thanks to the Pew Internet Foundation, we have a lot of data about ePatients. These empowered, engaged and educated patients (and families) are helping to bring about a transformation of healthcare in this country. Pew’s Susannah Fox has named them “healthcare superheroes.”

Through our experience at Siren Interactive, we know a lot about rare disease patients who are supercharged ePatients. These patients are hyper-empowered. Because they have to be. Leading up to Rare Disease Day on February 29, 2012 (a rare day indeed) I’d like to celebrate some of the amazing accomplishments of a few rare disease communities.

Rare disease patients start clinical trials
Team Sanfilippo Foundation is a nonprofit medical research foundation started by a group of parents with the mission of finding potential therapies that can be tested clinically in the near future. Team Sanfilippo used social media to beat out thousands of others to win $250,000 from the Pepsi Refresh Project. The grant funded a clinical trial led by Dr. Haiyan Fu of the Research Institute at Nationwide Children’s Hospital in Columbus.

Rare disease patients recruit for research studies
After Katherine Leon was diagnosed with spontaneous coronary artery dissection (SCAD), a poorly understood heart condition that affects a few thousand Americans every year, she went online. Via online communities Leon was able to connect with a few similar women. Leon approached the Mayo Clinic’s Sharonne Hayes, MD, about how she could help spur more research into SCAD. Dr. Hayes was inspired to start a research study, with a recruitment goal of 12 patients. Leon spread the word via online communities and within a week had recruited 18 volunteers. Due to the strong interest, Mayo has launched a bigger trial with 200 SCAD patients and an equal number of their close relatives.

Rare disease patients change laws
Bill and Nicole Morris successfully advocated for the passage of Greyson’s Law (HB 1795) to ensure that Texas screens newborns for 52 disorders. This effort was driven by the memory of their son, Greyson, who died of Krabbe disease, a rare inherited degenerative disorder of the central and peripheral nervous systems.

Rare disease patients start their own biotech companies
After an Israeli biotech company stopped working on a promising medication, two US families bought the drug and decided to develop it themselves as a possible treatment for their children’s Duchenne muscular dystrophy. The company, Halo Therapeutics, has been granted orphan drug status for the therapy.

This year, with more accomplishments, increased media exposure and higher awareness of rare diseases, we certainly have something to celebrate and inspire us to go further. These are only a few examples of the power of rare disease patients; please share more stories in the comments below.

]]> http://rareproject.org/2012/02/24/the-power-of-rare-disease-patients/feed/ 0 February 29 – A Celebration of Unity http://rareproject.org/2012/02/14/february-29-a-celebration-of-unity-2/?utm_source=rss&utm_medium=rss&utm_campaign=february-29-a-celebration-of-unity-2 http://rareproject.org/2012/02/14/february-29-a-celebration-of-unity-2/#comments Wed, 15 Feb 2012 02:49:08 +0000 Heather Earley http://rareproject.org/?p=6776

The Month of February

During the month of February,  much of the American population will be celebrating historical events, special interest groups and campaigns.  Some of these include Black History,  American History, Children’s Dental Health, and American Heart Month.  Internationally recognized events in February include National Embroidery month (my favorite), Wild Bird Feeding, Cherry and Friendship month.

To much of the Rare Disease Community, February has become a month to celebrate successes in research, tributes to organizations fighting for their cause, and remembrance of those who have lived with rare disease.

With the promotion of rare disease from organizations such as NORD, R.A.R.E. Project, EveryLife Foundation and Rare Disease Legislative Advocates, the rare disease community also has a chance to make a difference in research, managed care, and legislative processes.

 

Unity Makes Change – the ULTRA Act

 As we continue to unify our “voices” and bridge the gap between the rare disease community, members of Congress and those who are unfamiliar with rare disease – our solidarity has managed to strengthen the rare disease community and raise awareness of the unique needs of individuals with rare disease.

Together the EveryLife Foundation, Rare Disease Legislative Advocates, RARE Project, and others are working to bring the “many voices” of the rare disease community to Capitol Hill for Rare Disease Day.

With the ULTRA Act of 2012, H.R. 3737 – our goals to unite the rare disease community will not only help spur the development of treatments for very rare diseases but will promote excellent science and improve the FDA’s regulatory process for all patients with life threatening diseases.

To date, 107 patient organizations have already supported ULTRA & more than 1000 people have sent emails to their Congress Members.

We urge all organizations to come together as a solid unit and continue the charge of what February 29 means to so many with Rare Disease.  As ONE, we can make a difference.

For more information about Lobby Day on February 28:

http://bit.ly/RDLALobby

 

]]> http://rareproject.org/2012/02/14/february-29-a-celebration-of-unity-2/feed/ 2 PATIENT STORIES OF HOPE AND INSPIRATION -’MEET ALEJANDRA!’ http://rareproject.org/2012/02/04/patient-stories-of-hope-and-inspiration-meet-alejandra/?utm_source=rss&utm_medium=rss&utm_campaign=patient-stories-of-hope-and-inspiration-meet-alejandra http://rareproject.org/2012/02/04/patient-stories-of-hope-and-inspiration-meet-alejandra/#comments Sun, 05 Feb 2012 00:39:44 +0000 Heather Earley http://rareproject.org/?p=6784

 

My name is Alejandra Islas. I’m a kindergarten teacher, living in Mexico City, Mexico.   I was diagnosed with Hypereosinophilic Syndrome (HES), in 1998, at a time when medical databases showed only six cases with symptoms similar to mine, and with a life expectancy of 6 months.

 

 

My symptoms started 13 years ago, while on vacation in Argentina.  Initially I had itching on my torso, but quickly started to feel tired, breathless and have heart and lung pain.  In what seemed unrelated, I started to feel utter discomfort in my feet. It was as if they were burning, got swollen and I could barely walk on my own.
An initial TAC and x-ray of my lungs showed some strange moving lesions which appeared to be related to parasites.  Also my feet continued to bother me and I wasn’t feeling my legs from the knee to the bottom anymore and some skin lesions started to appear… they looked like chickenpox or scarlatina on my torso, vasculitis on the face and a trail of insect bites around my calf. I went to see a dermatologist, who was baffled by them but didn’t think they were a serious condition because the symptoms didn’t match to those of an infection, and he didn’t think the heart pain was related.

Luckily, my father and brother had worked in the pharmaceutical industry, they knew blood tests could reveal something still undetected.  A blood test showed that my EOS count was 79,000 (when the upper limit was 6,000).  Tests to check for lupus, vasculitis, scleroderma, parasites and more were ordered, but all showed up negative.  Some tests were even sent to the US to the CDC in Atlanta, GA, however at that time no one could determine an explanation for my symptoms.

Over the next few months I was feeling worse and worse. Chest pain, tiredness, general sickness, awful pain in my abdomen, joint pain and hot bruises all over my body, and I couldn’t even walk anymore.  I had lost several pounds and now I could barely eat…. my body started to reject all food.

In the hospital, doctors prescribed four steroids to at least calm down the pain and to see if that would help with the hypereosinophilia, and it did!  And I was finally diagnosed with HES.  I am currently treated with a low dose of inhaled beclomethasone, although recently it has become really hard to find around the world.

I have a strong faith and I am certain God performed a miracle where my physicians, all of them at Medica Sur Hospital, in Mexico City, have been His instruments. And of course, I also thank God for my family, without it wouldn’t be possible for me to be here today.

Although I live in Mexico, I wear jeans and made denim ribbons to share with family, friends and all those who ask about the meaning of them. I also wear my special bracelet made for this purpose. I am glad to be able to contribute my experience and advice to support others with HES!!

Thank you and God bless you all!!

Alejandra Islas
Mexico City, DF

]]> http://rareproject.org/2012/02/04/patient-stories-of-hope-and-inspiration-meet-alejandra/feed/ 0 Patient Stories of Hope and Inspiration http://rareproject.org/2012/01/12/patient-stories-of-hope-and-inspiration/?utm_source=rss&utm_medium=rss&utm_campaign=patient-stories-of-hope-and-inspiration http://rareproject.org/2012/01/12/patient-stories-of-hope-and-inspiration/#comments Thu, 12 Jan 2012 17:57:51 +0000 Amy Grover http://RAREproject.org/blog/?p=5421 Patient Stories of Hope and Inspiration – To be shared with the world every day in the month of February 2012!

Thank you to all those who have submitted stories of hope and inspiration!  We’ve received many heartfelt stories from parents and patients of those affected with Moebius Syndrome, CPS (Carbamoyl Phosphate Synthetase), Dystonia, undiagnosed, Glut1 DS, Krabbe’s Disease, Charcot Marie Tooth Disorder and many more.  We want to hear your story too!

Nothing can portray the fight, the struggles, the daily challenges, the joy, the inspiration, the hope, as a story can. As we approach the month of February, and the celebration/recognition of World Rare Disease Day 2012, we would like to take this as an opportunity to share our communities stories with the world!

RAREProject/Global Genes Project will be co-promoting a ‘patient story of inspiration and hope’ every day in the month of February 2012, in support of World Rare Disease Day. Submissions are being accepted December 1, 2011 – January 15, 2012.

Stories should  be limited to 3 paragraphs and please provide a photograph for us to include. As a thank you for your participation, we will send you our new CARE ABOUT RARE Jeans ribbon car sticker! It is an exciting time and an important time for us to come together as a community!  

Please submit your story and pictures to RARE Project by January 15, 2012 by clicking here.  Any questions?  Email:  info@rareproject.org.

Forward to a friend and help spread the word!

]]> http://rareproject.org/2012/01/12/patient-stories-of-hope-and-inspiration/feed/ 0 HAPPY NEW YEAR! BEST WISHES THIS 2012 http://rareproject.org/2011/12/31/happy-new-year-best-wishes-this-2012/?utm_source=rss&utm_medium=rss&utm_campaign=happy-new-year-best-wishes-this-2012 http://rareproject.org/2011/12/31/happy-new-year-best-wishes-this-2012/#comments Sat, 31 Dec 2011 22:31:11 +0000 nboice http://RAREproject.org/blog/?p=5631 From all of us at RARE Project ~

Wishing you a new year filled with HOPE, PROMISE, FAMILY, and PERSPECTIVE!
This is an important year for the RARE Disease Community,we invite you to get engaged and spread the word, there is a lot of work to be done.

Join us at www.rareproject.org and www.globalgenes.org


]]> http://rareproject.org/2011/12/31/happy-new-year-best-wishes-this-2012/feed/ 1 Action Alert: Unlocking Lifesaving Treatments Act – ULTRA Act of 2012 http://rareproject.org/2011/12/30/action-alert-unlocking-lifesaving-treatments-act-ultra-act-of-2012/?utm_source=rss&utm_medium=rss&utm_campaign=action-alert-unlocking-lifesaving-treatments-act-ultra-act-of-2012 http://rareproject.org/2011/12/30/action-alert-unlocking-lifesaving-treatments-act-ultra-act-of-2012/#comments Fri, 30 Dec 2011 16:37:31 +0000 nboice http://RAREproject.org/blog/?p=5575 In December 2011, U.S. Representatives Cliff Stearns (R-FL) and Ed Towns (D-NY), two senior members of the Energy and Commerce Committee, introduced bipartisan legislation to help spur the development of treatments for very rare diseases. The Unlocking Lifesaving Treatments for Rare diseases Act of 2012, or ULTRA, H.R. 3737, will improve access to the FDA’s Accelerated Approval process for very rare diseases, provide a more predictable regulatory process, bring down development costs, and spur investment in the development of treatments. Additionally, ULTRA requires the FDA to use the best science available, ensuring treatments are safe and effective and reach patients sooner.

Over 90 organizations have signed on to the letters of support. Click here to see the list and read the letter. Visit CureTheProcess.org for more information.

]]> http://rareproject.org/2011/12/30/action-alert-unlocking-lifesaving-treatments-act-ultra-act-of-2012/feed/ 1 The Myelin Repair Foundation Aims to Eliminate the Valley of Death http://rareproject.org/2011/12/28/the-myelin-repair-foundation-aims-to-eliminate-the-valley-of-death/?utm_source=rss&utm_medium=rss&utm_campaign=the-myelin-repair-foundation-aims-to-eliminate-the-valley-of-death http://rareproject.org/2011/12/28/the-myelin-repair-foundation-aims-to-eliminate-the-valley-of-death/#comments Wed, 28 Dec 2011 17:21:54 +0000 Meme Fehmers http://RAREproject.org/blog/?p=5551 What a great video. Watch to learn why $139 billion dollars invested into medical research only leads to 21 FDA approved drugs. The Myelin Repair Foundation is one of many organizations/RARE advocates working to change this.

To learn more about the Myelin Repair Foundation, click here.

]]> http://rareproject.org/2011/12/28/the-myelin-repair-foundation-aims-to-eliminate-the-valley-of-death/feed/ 0 Wall Street Journal Reports – Do It Yourself Drug Development, With Some Help! http://rareproject.org/2011/12/27/wall-street-journal-reports-do-it-yourself-drug-development-with-some-help/?utm_source=rss&utm_medium=rss&utm_campaign=wall-street-journal-reports-do-it-yourself-drug-development-with-some-help http://rareproject.org/2011/12/27/wall-street-journal-reports-do-it-yourself-drug-development-with-some-help/#comments Tue, 27 Dec 2011 23:45:38 +0000 nboice http://RAREproject.org/blog/?p=5547
The effort by two families to buy and develop a drug that holds promise in treating Duchenne muscular dystrophy — described today in the WSJ — is the result of an innovative new model set up to support the burgeoning phenomenon of do-it-yourself drug development.

Before the Seckler and Wicka families bought halofuginone, a drug that showed promise in experiments done with Duchenne mice, they set up Dart Therapeutics. Dart is funded by foundations set up by the two families, and run by Eugene Williams, a drug industry veteran with 25 years’ experience, including seven years at Genzyme.

Mutual acquaintances led the Secklers and Wickas to Williams in 2010, when the families were discussing how to advance drug development in Duchenne muscular dystrophy. The disease is rare, with only around 20,000 new cases a year, and both families were increasingly frustrated that despite raising many millions to help fund research and experimental drug development programs, promising compounds frequently went nowhere.

They wondered if, with expert advice, patients and advocates in some cases might be able to develop drugs themselves.

That idea led to the formation of Dart in June, 2010. Williams, who is the chairman, put together a “virtual company” — with no big in-house staff — comprised of former senior executives and consultants expert in developing drugs and getting them through the FDA approval process. The idea, says Tracy Seckler, whose son Charley has Duchenne and whose Charley’s Fund foundation is co-owner of Dart, was to create a vehicle to identify potential compounds, make deals, and develop the drugs.

Williams says that in developing drugs for rare diseases, patients and advocates have to take a variety of approaches. Dart’s job is to assess how to best move a drug forward. In some cases, that may mean putting up some money to get other companies to focus on a compound or to pay for testing or other studies to move the program forward. In other cases, Dart will provide advisers and consultants to oversee pre-clinical work that a traditional pharma or biotech company might not want or be able to take on. “We want to help reduce the risk so drugs don’t get stalled,’’ says Williams.

By Amy Dockser-Marcus

In cases where Dart decides it’s worth it to buy the drug — which is what happened when it took a look at halofuginone — a separate company will be formed. (In the case of halofuginone, the company is called Halo Therapeutics.)

Williams  presented the model at a FasterCures conference last year in an effort to spread the word to other patient-driven foundations.

Ultimately, some of those foundations may become customers of Dart. Seckler tells the Health Blog that the goal is not only to help do-it-yourself drug development for Duchenne but also other orphan diseases that can use outside experts to negotiate deals, oversee experiments, and work with the FDA.

http://blogs.wsj.com/health/2011/12/27/do-it-yourself-drug-development-with-some-help/

“We hope to generate revenue to continue what we’re doing in Duchenne muscular dystrophy by providing these services,” she says.

]]> http://rareproject.org/2011/12/27/wall-street-journal-reports-do-it-yourself-drug-development-with-some-help/feed/ 1 A RARE REFLECTION ~ 2011 http://rareproject.org/2011/12/27/a-rare-reflection-2011/?utm_source=rss&utm_medium=rss&utm_campaign=a-rare-reflection-2011 http://rareproject.org/2011/12/27/a-rare-reflection-2011/#comments Tue, 27 Dec 2011 14:20:35 +0000 nboice http://RAREproject.org/blog/?p=5454 A RARE Reflection

As this year comes to a close I felt compelled to take just a few minutes to share my thoughts, hopes and wishes for this upcoming year.  But equally important, to reflect on this past year’s journey and how we have come to be where we are at today.

There is much to be grateful and thankful for;

  • Those who have inspired
  • Those who have participated
  • Those who have supported
  • Those who have believed
  • Those who continue to fight the fight
  • Those who champion
  • Those who share the passion
  • Those from whom we learn

There are friends and angels that have passed, whom we will never forget

There are friends who we have just met and welcomed

There are those behind the scenes, guiding, advising, directing

My wishes for 2012;

  • To Be Courageous
  • To Be Faithful
  • To Inspire Hope
  • To Unify and Unite
  • To Remain impassioned
  • To Stay The Course
  • To Grow and flourish
  • To Do Good
  • To Be Well
  • To Live In The Moment
  • To Nurture old friendships
  • To Grow New Friendships
  • To Never Forget

We are all on this journey together.  May we continue to forge ahead, support one another and inspire others to join us in our quest.  My wishes to you for a meaningful 2012, filled with joy, laughter and family.

Onwards

Nicole Boice, nicoleb@rareproject.org

]]> http://rareproject.org/2011/12/27/a-rare-reflection-2011/feed/ 0 75 Days Until World Rare Disease Day! http://rareproject.org/2011/12/15/75-days-until-world-rare-disease-day/?utm_source=rss&utm_medium=rss&utm_campaign=75-days-until-world-rare-disease-day http://rareproject.org/2011/12/15/75-days-until-world-rare-disease-day/#comments Thu, 15 Dec 2011 15:17:00 +0000 Meme Fehmers http://RAREproject.org/blog/?p=5478 It’s December 15th and that means only 75 days left until World Rare Disease Day on February 29th, 2012! The number 75 is significant for the rare community. According to the NIH’s Office of Rare Disease Research, 75% of RARE diseases affect children making this disease category one of the most deadly and debilitating for our country’s children.

Other staggering statistics:

  • Estimated 350 million people worldwide affected by rare disease
  • Only 5% of rare diseases have treatments; there are no cures
  • Over 50% of rare diseases have no foundations, advocacy groups or community support
  • 1 in 10 Americans is affected by RARE disease, that’s over 30 million people
  • 30 million Americans is more than the total number of people living worldwide with cancer (28 million according to the Livestrong Foundation)

Can you please help us raise awareness to those affected by rare disease?

  • How have you, your family or a friend been affected by rare disease? Submit your story along with a photo via the form on our Facebook page. We will be promoting the stories on our RARE blog everyday during February leading up to World Rare Disease day. Receive a “Care about RARE” car sticker for submitting your story.
  • Are you a jewelry designer, school group or just a crafty person? Make and donate a bracelet to our 7000 Bracelets campaign and bring hope to a child/family living with rare. If you have a rare disease, please sign up to receive one of the bracelets.
  • Or, help us assemble blue demin ribbons for World Rare Disease day. We will send you a kit with all materials included! Email Amy at amyg@rareproject.org.
  • Are you a blogger? Join our rare disease blog hop in January & February! Stay tuned for details around the start of the New Year.

Do you have other ideas on how to show support for the rare disease community?
Post on Facebook at Facebook/globalgenesproject
Tweet with us via @GlobalGenes #1Mil4RARE

The mission of our Global Genes Project campaign is to increase awareness for the rare community. Help us bring together 1 Million for RARE on our Facebook page. Please like our page and share with a friend.

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