Tuesday, July 17, 2012

Global Genes! Can we count on you? RARE Advocacy



A major challenge facing the rare and genetic disease community is the lack of a forum for significant, open, and regular communication on common issues of broad interest. While each rare disease is unique from a scientific standpoint there are many other issues which span the entire rare community - resources, policy, funding, research, patient quality of life, clinical care, payers, etc.
Global Genes | R.A.R.E will hold a Patient Advocacy Summit on September 28, 2012, from 9 a.m. to 3 p.m. at the Balboa Bay Club & Resort. Patient advocates will engage, learn, and discuss a variety of topics that directly affect them leading to collaborations that will benefit the entire rare community.
Topics of Discussion:
  • RARE Advocacy - You Have the Power
  • Innovative Technologies & Science
  • New Non-profit Business Models
  • Building Healthy Rare Disease Communities
  • Public Communication & Media Engagement
The event will be highly interactive. Panels and discussion will be prioritized over formal lectures and presentations. The outcome is not pre-set, it will be a collective effort based on the interactions of the participants. This annual summit is open to all in the rare disease community that wish to participate and is free.
Tentative Agenda
Friday, Sept 28, 2012 | 9am - 3:00pm
9:00Introductions - sharing our common ground
10:00RARE Advocacy - You Have the Power
10:50Break
11:00Innovative Technologies & Platforms
12:00Working lunch - table-topic focused networking
1:00Building Healthy RARE Disease Communities
2:00Break
2:15Communicating with the Public
2:45Collaborations, re-cap, next steps, wrap up
3:00Closing remarks
Sign Up
Finding, aligning, and acting on this common ground will further empower the rare community to establish a powerful shared, vibrant, and global voice that will lead to increased awareness, support, actions and response.
Sign up today via
Remember... Research is the key to your cure!

Tuesday, July 10, 2012

Have YOU signed up YET? WE NEED YOU!


Join the Registry


Join the Porphyria Registry and LET THE GOVERNMENT KNOW THEY MUST PROVIDE FUNDING FOR PORPHYRIA RESEARCH!!!!!
To join the Contact Registry, click here to open a page that lists all of the rare disease consortia. Scroll down the page until you come to the Porphyria Consortium and click on your type of porphyria. You will then be asked to complete a simple form including information about the date of your diagnosis, if you know it. If you have copies of your initial diagnostic lab results, you may want to have them handy when you go to the registry website. 
Porphyria experts have created this National Porphyria Registry—a type of partnership between doctors and patients— as a way for those with porphyria to share information about their health and treatment so physicians can learn from their experience and use that knowledge to enhance diagnosis, treatment and eventually find a cure for porphyria.
It is the best means to prove that there are enough porphyria patients who want improved health care. If we don't speak up, we will be left behind when research funding is given. We DO NOT HAVE ENOUGH PEOPLE ON THE REGISTRY. Please join the registry.
Joining the Porphyria Registry is anonymous and free of charge. All data will be stored in a secure, computerized database. No personal identifying information (such as your name, address, telephone number) will be given to anyone without your expressed approval.
_________________________________________________
The registry is not linked to APF membership, but we hope you will join the American Porphyria Foundation too! So please consider joining the Contact Registry, and thank you for continuing to be a member of the APF.
Doctors who study rare diseases see a relatively small number of sufferers over many years of practice. This Registry will give a big boost to medical and scientific understanding of porphyria by bringing together information from patients all over the country.
If you need help enrolling in the registry contact our office toll free at            1-866-APF-3635      .

Porphyria Education for MDs


 Do you have this for your Doctors?
 

 

The APF promotes comprehensive health care necessary to


manage life with porphyria. We encourage members to call

the office and request a free

Acute Porphyria Physician


Education Kit

for your doctor. Treating physicians can also


get information about consulting a Porphyria specialist on diagnosis

and patient care.


Acute Porphyria Physician Education Kit contents:
Diagnosis and Management of the Acute Porphyrias,”



Annals Int Med, March 2005);



APF Brochures

on all of the porphyrias (written by porphyria


experts);
Detailed information on biochemical and genetic testing


for porphyria;


Detailed information on treatment of acute porphyria


with Panhematin®

(hemin for injection), and preparing


hemin with albumin.


The APF also offers:
In acute porphyria Drug Safety Database;



Two Continuing Medical Education courses on Porphyria


(online, free of charge to practicing physicians);
A PowerPoint presentation, suitable for detailed presentation


to students and hospital staff;
Porphyria Live

(30-minute educational DVD focusing on


PCT, AIP and EPP, features patient stories and extended specialist

interviews).
For more information, call 713-266-9617 or 866-APF-3635

Friday, July 6, 2012

New News from the APF!


NEW at the APF

APF Pain Program

The APF has indicated a new Pain Project to help educate physicians on the extreme pain that many porphyria patients endure.   Because some states have instituted stringent pain prescription policies, the APF has felt it necessary to focus on this issue as part of our physician education program.  
 
We need your input.  Please call or email the APF with your experiences -- good or bad.   Please contact porphyrus@aol.com or contact Desiree at the APF office            (713) 266-9617       or             866 APF 3635       Toll Free.    
 
We are developing educational materials that will include the comments of experts around the world, as well as articles related to porphyria pain. 
 
Protect the Future

Please remember that the APF has an ongoing Protect the Future training program to educate porphyria experts for the future.  As our present experts approach retirement, we look to these young doctors to fill their positions. 
 
For example, we need your help to provide travel to the different centers to train under different experts, as well as travel to national and international porphyria educational meetings to meet and share information with their colleagues around the world. 
 
Training experts is a costly endeavor.  Each of us benefit from their training.   Without them, what will we do in the future and what will our physicians do without them.   Porphyria Experts are the doctors who write the medical textbooks and journal articles that your doctors read to learn how to diagnose and treat porphyria.  
 
Every day doctors reach out to the APF to ask for information from porphyria specialists.   The APF also sends out thousands of physician education packets to your primary care doctors.  In fact, if you want us to send your doctor a comprehensive packet, please contact the APF and give us your physician's name and address and we will send a packet forthwith.
 
The APF is asking that you make a special donation that goes directly to the Protect the Future program to train the next generation of experts.  Watch the September APF newsletter, which will feature each trainee with their mentors.  We are very proud of this group of young physicians.  Your lives are in their hands.   
 
EPP Trials Have Begun

The long awaited Phase III EPP Clinical trials using afamelanotide/Scenesse for EPP have begun in seven centers across the country.  The following physicians at these respective centers are the primary investigators for the trials.  Watch the APF eNews and the APF newsletter progress during the trails. 
 
Dr. Karl Anderson
University of Texas Medical Branch
Galveston, TX
 
Dr. Montgomery Bissell
University of California
San Fransisco, CA
 
Dr. Joseph Bloomer
University of Alabama
Birmingham, AL
 
Dr. Herbert Bonkovsky
Carolinas Healthcare System
Charlotte, NC
 
Dr. Robert Desnick
Mount Sinai School of Medicine
New York, NY
 
Dr. Henry Lim
Hwnry Ford Health System
Detroit, MI
 
Dr. John Phillips
University of Utah
Salt Lake City, UT
 
The trials will continue for approximately six months.  At the close of the trials, the collected data will be assessed and presented to the FDA.  It is our hope that they will give approval for the afamelanotide/Scenesse treatment timely.   The drug is already available for patients who are Italian citizens.
 
Once approved, the treatment will become available to patients nationwide. 

Important EPP Survey URGENT ASAP!!!

Important EPP Survey Dear EPP Community, As you know, the diagnosis of EPP is often delayed for many years. Researchers at the Icah...