Tuesday, October 30, 2012

Highlights from the U.S. Conference on Rare Diseases and Orphan Products

Highlights from the U.S. Conference on Rare Diseases and Orphan Products

Role of Academic Centers, Looming Investment Crisis and More.

Jonathan Leff, MBA, Managing Director, Warburg Pincus, spoke in a special session on "Facing the Crisis in Biomedical Innovation: A Venture Investor's Perspective" on Day 2 of the conference.

Duke University Professor of Pediatrics Priya Kishnani, MD, told a standing-room-only audience the intensely moving story of the development of a treatment for infants and children with Pompe disease.  She focused on collaboration among academic researchers, industry and patient advocacy groups, describing the roles of Duke and Genzyme in developing an enzyme replacement therapy.

Lisa Coles, PhD, of the University of Minnesota's Center for Orphan Drug Research, described the expanding role of academic centers in drug discovery and development for rare disease R & D.  She presented strategies related to discovery of new chemical entities and drug repurposing.

FDA representatives and patient advocates discussed the changing role of patients at FDA and the agency's increased emphasis on interaction with patients.

On the Research/Regulatory track, sessions focused on endpoint development and post-marketing period opportunities for continue learning, among other things.  

The APF is active in the Rare Disease Community.

"Remember....Research is the key to your cure!"

Saturday, October 27, 2012

Important upcoming Events Get involved!

Important upcoming Events
Get involved!

A Charity Paintball Game to benefit the 
American Porphyria Foundation
November 4, 2012 9:00 am. @ Paintball Explosion Park
601 Dundee av., East Dundee, Illinois 60118

Boston Patient Meeting with Dr. Peter V. Tishler & 
Dr. Herbert Bonkovsky
You are invited to an American Porphyria Foundation Patient Meeting with Renowned Porphyria Experts Dr. Peter V. Tishler & Dr. Herbert Bonkovsky
November 12, 2012, 5:30-8:00 PM EST @Brigham Shapiro Building Shapiro Board Room (First Floor), 70 Francis Street, Boston, MA 02115

APF Exhibit at the American Society of Hematology. 
Volunteers needed.
The American Porphyria Foundation will host an Exhibit Booth at the Annual American Society of Hematology Convention at the Georgia World Congress Center, Atlanta, GA, December 8-10, 2012.
We are in need of volunteers to help man the Exhibit booth (dates and times are listed below), to educate eight thousand physicians who will attend the meeting. This is a wonderful opportunity for APF members in the Atlanta area to educate physicians about porphyria by distributing pertinent medical information and share your own experience with the disease. Together we can enhance awareness and education of the porphyrias.   If you would like to be a part of this exciting opportunity, please e- mail Yvette atporphyrus@aol.com or call (713) 266-9616.
For Exhibit dates and times and contact information visithttp://www.porphyriafoundation.com/events/2012-ASH-APF-Exhibit

"Remember......Research is the key to your cure!"

Thursday, October 25, 2012

Please Read and Support Justin Hamilton~CEP

A young man in south western Nebraska is battling extremely rare skin condition.

Ever since he was born, Justin Hamilton has had an extremely rare disease that makes him allergic to sun light,

As Nebraskans, we all enjoy the outdoors, and we all take precautions to protect ourselves from the sunlight, whether it is a hat, sunblock, or long sleeve shirts. Justin Hamilton is no exception, but he has to take it to a whole new level.

"You know, I'm 28 years old and a lot of people think I've been in a burn or something with the scarring on my face and my hands, but it's really sunburn. There's something my body that doesn't make to prevent the UV rays from, you know, blister and whatnot,” says Justin Hamilton , Living With Rare Skin Condition.

Justin was born with an extremely rare skin condition called Congenital Erythropoietic Porphyria.
The symptoms are extreme photo sensitivity to sun light that leads to blistering, severe scarring, as well loss of facial features.

"There's very few people out there with this kind of condition and so it's really rare. So there aren't a whole lot of studies to fall back on,” says Hamilton.

There are possible therapies for Justin's conditions, including bone marrow transplants, blood transfusions and even gene therapy and stem cell transplantation.

"We've got in contact with some doctors down in Texas that could really help us out. You know, there's a lot more research now and technology that, I Guess and hope ... We're not trying to get too excited, Maybe there's a procedure or surgery that they can do to get rid of whatever is my body doesn't make,” says Hamilton.

Despite his condition, Justin lives a full life. He's a lover of animals and the outdoors and was recently married in 2011

"My wife is just amazing. She helped me out through thick and thin. I couldn't ask for a better wife,” says Justin Hamilton , Living With Rare Skin Condition.

Justin Hamilton is one in 1,000,000, literally.
Not only for his condition, but also for his attitude, outlook on life, and his great sense of humor.

"There have been times when I'm down but I have a great loving wife and family and friends that have always stood there behind me. I've always tried to give more than take and in return you get back what you give into it I guess you could say,” says Hamilton.

There will be a fundraiser Sunday October 28th to help Justin Hamilton to raise money for medical expenses.

It's in Hayes Center at the 4H building starting at 5 p.m. with a meal.

And a Live Auction at 6:30.

For a Detailed list of medical information on this Rare Disease CEP- Porphyria please visit www.porphyriafoundation.com you can also make a donation to support Research Dr. Education & the APF.  Show your support for them both, learn how today.

Monday, October 22, 2012

Pharmacy Aligns With Hospitals to Reduce Readmissions

Thinking about our Health in reading in a Health Magazine the following, how will this accept our care, could it help us?  Enjoy reading this like I did and see how you may be able to benefit.  This story is available to be copied and shared by: 

Jacqueline Fellows is an editor for Health Leaders Media.

Pharmacy giant Walgreens announced a program Tuesday that it believes will help hospitals reduce read missions by using pharmacists to coordinate patient care during admission and discharge.
Hospitals are under the gun to lower readmission rates since the Centers for Medicare and Medicaid Services (CMS) started assessing financial penalties October 1.
At its core, Walgreen's program, called Well Transitions, lifts the burden of medicine reconciliation off of the patient, and off hospital staff.  Exact details about medications are easy for patients to forget, and nurses need the information to do a proper workup, says Joel Wright, Vice President of Health Systems Operations for the retailer.
"When a patient is admitted, we would be brought in, and we would help provide medication history, rather than starting with a blank sheet of paper. You know, my dad went in and he's like, 'Well, I'm on a blue pill for my water.' So, this gives that nurse a starting point to have that conversation with the patient to really understand what that patient is on," says Wright.
The effort doesn't stop there. Wright says when the patient is ready to be discharged, a Walgreens pharmacy staff member will make bedside deliveries of medications a patient will need to take home. After that, a clinician will follow up with regular phone calls to make sure the patient is taking medication properly, and see that an appointment has been made with their primary care physician.
"The goal of this is to be closer to the patient and be closer, as well, to the prescribers and… leverage those pharmacists to be more a part of the healthcare team and work more collaboratively and really even work with the system to help patients get, stay, and live well," says Wright.
There are about a dozen hospitals participating in the program now. The Walgreens wants to roll it out nationwide, and Wright says they're in the contract phase with "many" providers.
Sarasota Memorial Health Care System has been in partnership with Walgreens' Well Transitions program for over a year. Susan Gaillard, RN, a heart failure specialist for Sarasota Memorial says the program has had an "absolutely huge impact" at the hospital.

"I'm a heart failure nurse and my job is to counsel people on their heart failure and make sure that they have all the tools they need to take care of themselves. Medication noncompliance is a really big cause of readmission."
Gaillard said she had no hard data on how the pharmacy program affected its readmission rate, but another participating hospital, Washington Adventist Hospital in Takoma Park, WA. does, says Wright.
"We only took the high risk patients, so the patients they felt were most likely to readmit, and of the first 48, only three of them readmitted. If you just look at heart failure, for example, the national average around that would be 20 percent."
Retailers are expanding their role in the healthcare continuum. Retail pharmacy chains such as Walgreens and CVS, started moving closer to patients and providers years ago when they unveiled walk-in clinics. This month Wal-Mart announced that beginning in January 2013, it will pay for cardiac and spinal surgeries for its employees through a bundled payment arrangement with six hospitals.
Both Walgreens and Wal-Mart are promoting the programs as no additional costs to patients.

"Well Transitions does enter into an agreement with the health system, so the health system does participate, and it's all covered through the fee reductions or penalty reductions or avoidance through the Medicare healthcare reform," says Wright.
Acceptance of these programs from patients who recognize brands they trust may move the coordinated model of care forward.

Tuesday, October 16, 2012

Learn, Be Tested, and get the Help you Need. A Must Read.

The APF is part of a committee which helps address the needs of the undiagnosed. Please take note of the following webinar for
Undiagnosed Diseases Program - Community Input webinar 10/17/12 2:30 pm ET
Start Time: 10/17/2012 2:30 PM ET
Duration: 90 minutes
Conference Number(s): 1-800-201-2375
Participant Code: 471324
The Office of Rare Diseases Research- NCATS and the National Human Genome Research Institute are hosting a webinar to provide information to the patient community about a new NIH initiative to expand the Undiagnosed Diseases Program (UDP). In addition, significant time will be dedicated to discussing the issues listed below. We will use the information discussed to help in the selection process of clinical sites for the expanded UDP. This webinar is not to solicit new patients nor to answer diagnostic questions.
The physical and financial costs of the diagnostic odyssey What are the major barriers to obtaining a diagnosis?
Ready access to specialists, including:
Inability to see a specialist necessary to help obtain an accurate diagnosis
Number of specialists seen in order to get an accurate diagnosis
Issues getting specialists to talk to each other (coordinated care)
Travel requirements (restrictions or limitations due to disease), including:
Numbers of times have traveled out of town to be seen by a doctor when trying to get an accurate diagnosis
Numbers of times have traveled out of state to be seen by a doctor when trying to get an accurate diagnosis
Distance needed to travel ever prevented seeing a doctor to get an accurate diagnosis
Farthest distance have traveled in order to be seen by a doctor when trying to get an accurate diagnosis
Ease of Access to Newer Diagnostic tests, including
Problems gaining access to newer imaging or genetic sequencing tests necessary to get an accurate diagnosis
Insurance reimbursement issues for costs related to getting an accurate diagnosis
Amount of time required to get tests approved by insurance companies/3rd party payers

Annual American Society Of Hematology, We need your help.

The American Porphyria Foundation will host an Exhibit Booth at the Annual  American Society of Hematology Convention at the Georgia World Congress Center, Atlanta, GA, December 8-10, 2012.
We are in need of volunteers to help man the Exhibit booth (dates and times are listed below), to educate eight thousand physicians who will attend the meeting.   This is a wonderful opportunity for APF members in the Atlanta area  to educate physicians about porphyria  by distributing pertinent medical  information and share your own experience with the disease.    Together  we can enhance awareness and education of the porphyrias.   If you would like to be a part of this exciting opportunity, please  e-mail Yvette at porphyrus@aol.com or call (713) 266-9616.

The booth is ready to open for the 8000  doctors who pass by.

Desiree and Yvette set up the exhibit booth!

Lundbeck visits the APF booth!

Desiree and Marilyn Register

Saturday, December  8th at 11:00 a.m. - 5:00 p.m.             
Sunday, December  9th  at  11:00 a.m. -  4:30 p.m.              
Monday, December 10th at 10:00 a.m. - 2:00 p.m.

Monday, October 8, 2012

Get Involved with the APF! It makes you feel Better. How?

Get Involved
Become a member of the American Porphyria Foundation today, and join us in our work for your good health!

When you join the APF, you become an integral part of an organization that empowers patients and helps them on the road to accurate diagnosis, proper care, and some day a cure. Adding your voice to ours makes us all stronger as we address our needs to health care providers, local, state and federal agencies and Congress.

Members of the American Porphyria Foundation receive:

Our quarterly newsletter — news about porphyria research and clinical studies, scientific meetings and member get-togethers, and stories about the doctors working in the porphyria field and about members like you;
Access to the APF In Touch network — the ability to connect with others who share your diagnosis;
Free participation in telephone conference calls with top researchers in the porphyria field;
Knowledge—that you are an important part of keeping reliable medical information about porphyria available to those who are newly diagnosed, or at a crossroads in their porphyria treatment, and frightened;
And much more!
The American Porphyria Foundation relies on member support to sustain programs like this website and other literature written or approved by porphyria experts.

U.S. memberships are $35 annually; international memberships are $45. The APF is a U.S. 501(c)(3) non-profit organization. All donations to the APF are tax deductible.

Join the APF by phone, mail, fax, or online.

To join by phone with your VISA or MasterCard, call us toll-free at 1-866-APF-3635 Monday-Friday from 9:00 a.m. to 4:00 p.m. Central Time. To join by mail or fax, please click here to complete and print the donation form.

Unable to pay? In case of need, we can waive the yearly $35/$45 membership donation. Simply write us a letter requesting that we waive the membership, sign and send it to the address below. We cannot accept waiver requests via email or telephone.

American Porphyria Foundation
4900 Woodway, Suite 780
Houston, TX 77056

Work with us!
The American Porphyria Foundation welcomes donations of your time and talents too. Would you like to volunteer or raise money for the APF, organize or attend an event, in addition to informing yourself about the porphyrias? If so, welcome! You’ll find lots more information in this section of our website on opportunities to get involved in our, and you can always call our office for help: 1-713-266-9617. Ask for Mira.

The APF is here to serve, and we’re proud to have you with us.

What is δ-Aminolevulinic Acid Dehydratase Porphyria (ADP)?

What is δ-Aminolevulinic Acid Dehydratase Porphyria (ADP)? ADP is more severe than the other acute porphyrias and can present in childhoo...