Monday, December 11, 2017

**UPDATED** Patient Day January 13, 2017 Orlando FL PLEASE READ!

Saturday January 13, 2018

Patient Day
10:00 am
Welcome D. Lyon-Howe, American Porphyria Foundation
10:05 am
American Porphyria Foundation Overview
Session 1- Heme Biosynthesis & the Erythropoietic Porphyrias
Co-Chairs: E. Minder, MD & S. Keel, MD
10:15 am
Heme Biosynthesis and the Porphyrias 101J.D. Phillips, PhD
10:45 am
Genetics 101H. Naik, MS, CGC
11:00 am
Erythropoietic Porphyrias Overview– M. Balwani, MD, MS
11:30 am
EPP Research– J. Marcero
11:45 am
Effective & Emerging Therapies for the Treatment of Erythropoietic Porphyrias– E. Minder, MD, MS
12:15 pm
Q & A moderated by Co-Chairs
12:45 pm
Session 2- the Acute Hepatic Porphyrias
Co-Chairs: D.M. Bissell, MD & C. Levy, MD
1:45 pm
Diagnosis of the Porphyrias– M. Badminton, MBChB, PhD
2:15 pm
Acute Hepatic Porphyrias Overview– D.M. Bissell, MD
2:45 pm
Caregivers and Support– Sandra Boone
2:45 pm
Current & Emerging Treatments– B. Wang, MD
3:30 pm
Research Overview and Patient PerspectiveTBD and Sharon Dill, Patient Representative
3:45 pm
Q & A moderated by Co-Chairs

4:30 pm
Closing remarksAmerican Porphyria Foundation

Friday, December 8, 2017

APF just got a makeover!

APF_FBCover_03 email header
Same dedication to the Porphyria community!

The American Porphyria Foundation is launching a brand new look today.  You will see this refresh across our communications including the website, seven Facebook groups, Porphyria Post, Twitter, Purple Light Blog, Google and YouTube.  We are proud of our new look that represents the people we serve and the group of rare diseases we represent. We remain steadfast in our dedication to support individuals and families who are impacted by Porphyria through physician and patient education, awareness campaigns, strong advocacy and a relentless focus on research.
Stay tuned for more exciting updates from your APF team in 2018! As always, thank you for your wonderful support.  
 APF Stand Alone Logo Email

2018 Heme Biosynthesis and the Porphyrias: Recent Advances - ORLANDO, FL

Mark your calendars to join the American Porphyria Foundation and the Genetic Disease Foundation along with expert physicians from around the world! On Saturday, January 13, 2018 there will be a Clinical Day for Patients which will include in-depth discussion on Erythropoietic and Acute Hepatic Porphyrias with domestic and international experts, interactive Q&A Sessions and much more. Registration is COMPLIMENTARY. If you plan on attending the clinical day for patients, please contact Edrin at the APF office today to register.

Clinical Day Flyer 
"Remember....Research is the key to your cure!"

Thursday, December 7, 2017

Jasmin Barman EPP

After having had the pleasure of getting to know many of you in person at the FDA workshop for EPP-patients last October in Maryland, I am glad to be given the opportunity to share my personal story as an EPP patient, porphyria researcher and patient advocate with you.
Like most EPP patients, it took me very long between the first phototoxic reaction at the age of 2.5 years and my diagnosis. One night in spring 2006, in my final year as a molecular biology student in Heidelberg (Germany), yet again I could not sleep because of the intense pain caused by the strong sunlight I was exposed to during my way home from university, despite having worn thick, long clothing, using an umbrella and walking in the shadow whenever possible. Like so many times before, I got up and searched the Internet for an explanation to my strange “sun allergy”. Excitingly, this time, I found a new article on Wikipedia, with the unfamiliar title “erythropoietic protoporphyria”. Those eight sentences written in lay terms just two weeks earlier by the beloved founder of the German EPP patient organisation, Verena Schmeder, described my life – and changed it in a way I would never have guessed: Today, I am in charge of the laboratory conducting all porphyria diagnoses in Switzerland, act as scientific advisor for the Swiss Society for Porphyria, am a co-founder of the International Porphyria Patient Network and represented the patient perspective during the approval process of afamelanotide (Scenesse®) at the European Medicines Agency (EMA).
But first things first: After finding out about EPP, it was overwhelming to meet other sufferers for the first time in my life. It was and still is impressive for me to see, how similar the experiences and coping strategies of EPP patients are: Since the majority of people around us do not believe how painful EPP is and how much it restricts all aspects of daily life, we tend to hide the condition and try to find our own ways in this world poisoned by light. Being a scientist, of course I also was fascinated to learn about all the aspects already known about EPP, like the fact that visible light is causing the phototoxic reactions and not UV radiation: Finally an explanation of why sunscreens never helped! And of course, I was intrigued by the many things not yet understood about EPP. In October 2006, Italian porphyria patients organized the first international porphyria patient day in Rome. There, I had the chance to discuss a few research ideas with the porphyria expert Prof. Elisabeth Minder from Switzerland. You can imagine my excitement, when she offered me a PhD position in her lab in Zurich! I joined her team in 2007 and my main area of research became iron metabolism and gene regulation in EPP.
During my time as a student in Elisabeth`s group, she conducted the first clinical trial ever testing afamelanotide (Scenesse®) in EPP. As an employer of the institute, I did not participate in the trials. However, I met fellow patients and was intrigued by the dramatic benefit this new therapeutic approach seemed to have on them. Then, thanks to enormous efforts by Elisabeth, nearly all patients in Switzerland could enrol in an early access program in 2012 and receive the afamelanotide treatment. Of course, I jumped at the opportunity but was rather sceptical and had limited expectations about the effects in the beginning but after overcoming the fear to be exposed to sunlight I experienced the same amazing, life-changing effects described by the others: Instead of a few minutes until the first symptoms started, I could now spend hours with friends and family outdoors! I also almost lost my aversion to be exposed to light because even if I developed a reaction, it would be much less painful and only last until the next morning and not up to two weeks as without the treatment. In the beginning, it felt crazy to choose the side of the street I wanted to walk on and not being restricted to the shadowy side! Thanks to the treatment I now have an almost normal life, I am able to make appointments to visit partner laboratories during day time, teach at the University of Zurich in spring and even attend scientific conferences in the summer, like the Porphyrins & Porphyrias congress this past June in Bordeaux.  
In 2012, the approval process for afamelanotide started in Europe: Between 2006 and 2012, five clinical trials in Europe and the US with more than 350 participants were concluded, and all showed that afamelanotide helps EPP sufferers to stay outdoors for longer and to experience less pain. In contrast to the FDA, the EMA does not have a standard policy to invite rare disease patients when evaluating a potential therapy for their condition. In 2013, Dr. Rocco Falchetto, president of the Swiss Society for Porphyria, and I organized an international patient day in Switzerland. All representatives of the attending porphyria patient organisations, amongst others Desiree Lyon from the APF, took the opportunity and together we wrote a letter to EMA, asking them to include patients in the process. Indeed, in 2014, EMA for the first time in their history invited another EPP patient and me to participate at a full regulatory committee meeting directly prior to the drug approval decision. We think that bringing in the patient perspective was crucial to make regulators understand the true burden of EPP and the real benefit that the treatment with afamelanotide brings! Frustratingly however, the excessive and complex post-marketing obligations demanded as a condition for approval by EMA make the treatment nearly inaccessible for European sufferers - three years after approval, only patients from the Netherlands have unrestricted access. Currently, EPP patients all over Europe organize protests, engage in political discussions and start media campaigns to make their voice heard. Our experience also shows: In every country, dedicated physicians are absolutely essential to the process – and, if they really want to, they find ways to provide the treatment to their patients! The best examples are Italy, where patients thanks to Prof. Gianfranco Biolcati’s personal engagement had access from 2009 on, even before the approval by EMA, and the early access program Switzerland leveraged by Prof. Minder, which is not even an EU member state.
For me, it is inacceptable to not alleviate rare disease patients from their suffering if a possibility exists to treat their condition. What is the rational for research if patients do not benefit from it when a drug is successfully developed? Patients potentially risk their health in drug trials, agreeing to test new substances and hoping to contribute to a better future for themselves and their fellow sufferers, in particular children, who are affected the most. In the current health care systems however, patients have to wait for very long and even might never gain access to a safe and effective treatment, if interests other than the patients’ health are prioritized. Again and again we have to explain and justify ourselves to so many representatives of authorities, regulators, committee members and staff of health insurance companies who are in the position to either give us a life or send us back into pain and darkness. No porphyria patient chooses the condition he or she suffers from. Therefore, whenever possible, I support the efforts of EPP patients and other advocates with my knowledge and experience. Seeing which difference the therapy makes for the sufferers motivates me again and again to give my best every day. And I am optimistic that with the European experience and the exchange the patient organisations are now having between each other, approval and access will be faster and easier to achieve for other countries.
This is how I first became a scientist, then a patient, and now a porphyria researcher and patient advocate. Because of EPP, I will never be the outdoor biologist catching new species in the mud of a tropical rainforest that I always wanted to become. But because of the condition I got to know so many great people in the patient and research community, found a fascinating research area and witnessed the development of a new drug! I am looking forward to the many exciting new developments in the field of porphyrias and hope to meet many of you in January in Orlando! 

*Photo credits
Annie Gentil,

Tuesday, December 5, 2017

Part 2-

Empowerment through education
It's very difficult for patients to do what they don't understand, so the first step in equipping patients to take on a more active role in their health care is to educate them. Start by communicating to patients that education is perhaps as important to their health as getting their prescriptions filled. They need to know all they can about their disease.
But just as patient-centered care can be more effective, patient-centered education is better education. The old education program, where you bring people in, sit them down and lecture to them, doesn't work any better than bringing them in, sitting them down and telling them to lose 20 pounds. Instead, the patient's needs should drive the education. For example, our center is testing diabetes education courses based entirely on questions from the audience. We do have a checklist of topics we want to cover, but we address those topics in the context of patient questions rather than through an impersonal lecture. Patients aren't interested in their disease from an intellectual perspective, as we are. They want to know about themselves. What does this mean to me? How's this different for me? How's it going to affect my life?
Four of the most important lessons patients with chronic diseases need to understand are the following:
1.     Their illness is serious. There are still patients out there who believe they have the “not-so-serious kind of diabetes.” If they don't believe it is a problem, they will never make changes to improve their health.
2.     Their condition is essentially self-managed. Every decision patients make throughout the day, from what they eat to whether they walk or ride the bus, has an influence on their health. Communicate to patients that they are the most important individuals in managing their illnesses.
3.     They have options. There is rarely one perfect way to treat a condition. In the case of diabetes, for example, patients can be treated through diet and exercise, oral medication, insulin and so on. Patients need to understand the different treatment options available and should be encouraged to look at the personal costs and benefits of each. Only the patient can decide if the benefits are greater than the costs.
4.     They can change their behavior. Rarely do patients leave the doctor's office and immediately enact whatever change was recommended. The reality is that it often has to be spread out into a series of steps. Teach patients that significant behavioral changes can be made by setting goals, taking that first step and figuring out what you learn about yourself along the way.
Empowering patients with information
One way to help patients focus and begin thinking about their health care goals is to talk with them about their individual health measures (e.g., blood pressure, LDL, HbA1c) and what those numbers mean. At our center, for example, we give patients a handout that lists the critical measures for their condition (ideal and actual), explains what those numbers mean and offers strategies for improvement. When faced with this information, patients can see for themselves where they are struggling and what they can do to better their scores.
A sample page from our handout is shown here.
Blood Pressure
Actual: _________________ mm/Hg
Ideal: 130/85 or lower
My goal is: ______________
A blood pressure reading has two numbers. The top number is called systolic blood pressure. This is the amount of pressure against the blood vessel walls when your heart pumps. The bottom number is called diastolic blood pressure. This is the amount of pressure against the blood vessel walls when your heart relaxes, that is, between heart beats.
In general, high blood pressure means that systolic blood pressure, diastolic blood pressure or both may be too high. For people with diabetes, high blood pressure is 130/85 or higher. High blood pressure increases your risk for strokes, heart attacks, kidney damage and eye disease.
To lower your blood pressure you can:
·       Eat less salt,
·       Take blood pressure medicine,
·       Exercise,
·       Stop smoking,
·       Monitor blood pressure,
·       Drink less alcohol,
·       Maintain reasonable weight,
·       Other: _________________________________
Helping patients set goals
In the patient-centered model of care, the driving force behind each patient visit is the patient's agenda or goals related to his or her condition. Ideally, the goal is clearly displayed in the patient's chart, and each person who handles the chart plays a part in supporting the patient in that goal, asking, “How did it go? What have you done this week? How can we help you do better?”
You might be thinking, “My patients don't have goals,” but they do. Even “noncom-pliant” patients have goals. Probably the best definition of noncompliance is a doctor and patient working toward different goals.
The process of setting “self-management” goals with the patient involves essentially two steps.
1.     Start at the problem. Rather than beginning the patient encounter focused on lab values or weight or blood pressure readings, begin by saying, “Tell me what concerns you most. Tell me what is hardest for you. Tell me what you're most distressed about and what you'd most like to change.” You'll get to the lab values and other issues later, but it will be in the context of the patient's personal goal, which will make it more meaningful for the patient.
As you begin to get a sense of the patient's concerns, explore those issues together. Ask, “Is there an underlying problem? Do you really want this problem to be solved? What's the realissue?”
2.     Develop a collaborative goal. Once you have worked with the patient to identify the real problem, your instinct may be to try to solve it, but don't. Don't try to fix it. Don't just say, “It will be OK.” Instead, validate the patient's feelings and his or her capacity to deal with the problem, and continue asking questions that will lead the patient to his or her own solution. Ask, “What do you think would work? What have you tried in the past? What would you like to try?”
It's always more meaningful when patients find the “ah ha!” on their own, so give them that chance. Encourage them to come up with ideas first, then offer your own suggestions or additional information that they may need. You can say “this works for some people” or “have you tried this?” or “here's why I don't think that's a good idea.” The important thing is to give the patient the opportunity to say “no” and to make the final decision on what goal to try.
Ultimately, at the end of the conversation, the patient should be able to tell you one step he or she is going to take. It should be very specific. If the patient says, “I'm going to exercise more,” ask what that means. Will they exercise four times a week? What activity will they be doing? How far will they walk? Help them to come up with a specific plan that they have created for themselves. It may not be the ultimate goal you would have chosen for the patient, but it's one they are more likely to accomplish. At the next visit, then, you can build on that.
Who actually works with patients to set their goals, whether you or the nurse or the diabetes educator, is perhaps less important than the fact that patients are encouraged to be more involved. The emphasis on self-management goals suggests that the visit is for them. It is their agenda, and they are active participants in the outcome.
Series overview
This article is part of an FPM series that followed Family Care Network, a northwest Washington state group without walls, as it tackled a 13-month quality improvement project focused on chronic disease care. The project was headed by the Institute for Healthcare Improvement and involved approximately 30 organizations nationwide.
Articles in the series are:
Building a Patient Registry From the Ground Up,” November/December 1999, page 43.
Using Flow Sheets to Improve Diabetes Care,” June 2000, page 60.
Making Diabetes Checkups More Fruitful,” September 2000, page 51.
Unnatural instincts?
The patient-centered model of care, and the emphasis on empowering patients to find their own solutions, may go against your instincts as a physician. As health care professionals, we often feel most helpful when we've given advice. The truth is, however, that we don't really help people solve their problems or make lasting changes in their lives by telling them what they should do. Ultimately, patients need to find their own solutions and motivation and must take responsibility for their health. We must empower them to do just that.
Martha Funnell, a certified diabetes educator, is the director for administration at the Michigan Diabetes Research and Training Center, University of Michigan Health System at Ann Arbor. The MDRTC has been funded by the National Institutes of Health since 1977 and is one of six such centers in the United States.
1. Wagner EH, Austin BT, Von Koroff M. Improving outcomes in chronic illness. Managed Care Quarterly.1996;4(2):12–25.

Very Important!!! Be A Medical Hero!!!

Research sites are opening for the Givosarin drug to prevent attacks in Miami, Wake Forest , NC, Galveston, TX, New York, Philadelphia, San Francisco, Ann Arbor, MI, Salt Lake City, Little Rock, Boston,
The new drug, Givosarin, is being researched to prevent acute porphyria attacks and hopefully the chronic pain associated with acute porphyria..aip, hcp, vp, Adp.
So far, the results of a trial have been very impressive. We cannot have new treatment without You as a volunteer. Participation and travel is free . 

Call the APF toll free 866-APF-3635.

Thursday, November 30, 2017



Hey everyone! The APF is creating our own version of a "Kid's Corner" focused on children with EPP. Our website will soon have a section called Shadow Jumpers. This will be a place for kids to learn from others with EPP, to share their own tips and tricks on things like what to wear, what to do for fun, insight for parents and so much more. We need your help to get started!
We are looking for YOUR tips and tricks on managing EPP. If you are a caregiver, please ask your child with EPP to share their ideas through you. These could include...
  • What clothes and trends do you use when covering up from the sun?
  • ·What are the ways you adapt to do certain activities outside?
  • ·What are fun things you do to pass the time inside while the sun is out?
  • ·What have been your best vacations?
  • ·How do you manage in the car? Learning to drive?
  • ·What do you do when you feel sad or left out?
  • ·How do you manage going to school?
  • ·How do you describe your EPP to other people?
  • ·...and anything else you think may be helpful to others!

Please submit all your tips in detail to:
We encourage you to send pictures or videos pertaining to your tips!
We can't wait to hear from you!

Stay tuned for more from Shadow Jumpers! 

Tuesday, November 28, 2017


The APF is participating in #GivingTuesday on Tuesday, November 28 - a global giving movement that has been built by individuals, families, organizations, and communities in all 50 states and in countries around the world. Millions of people have come together to support and champion the cause they believe in helping. We hope that you choose the APF! Each and every donation to the APF will have a huge impact toward helping people impacted by Porphyria. Get ready to join the movement and share with your community!!


**UPDATED** Patient Day January 13, 2017 Orlando FL PLEASE READ!

Saturday January 13, 2018 Patient Day 10:00 am Welcome – D. Lyon-Howe, American Porphyria Foundation...