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Showing posts from May, 2013

Inside Clinuvel: Porphyrins & Porphyrias 2013

Inside Clinuvel: Porphyrins & Porphyrias 2013



The biennial Porphyrins & Porphyrias conference is the only international meeting of global key opinion leaders on the group of diseases known as porphyrias. Convening last week (15-19 May) in Lucerne, Switzerland, P&P has become an important fixture on Clinuvel’s calendar, providing an opportunity to review updates from across the globe and discuss our program with international experts.Our specific interest in the porphyrias lies with erythropoietic protoporphyria (EPP), one of the rarer forms of the disease grouping and the lead indication for our drug SCENESSE® (afamelanotide 16mg implant). Indeed there were a number of presentations reviewing updates in thinking on EPP, including presentation of results from Clinuvel’s program. I’ll return to those shortly, however, as there have been significant advances in another form of porphyria and it would be remiss not to at least mention these here.Porphyrins and pathwaysPorphyrias…

New Panhematin brochure available for your physicians.

New Panhematin brochure available for your physicians.

Panhematin®The APF has produced a new Panhematin® brochure.  If you would like a copy of the new brochure for your physician, please contact the APF and we will forward one to you promptly.  Remember, too, that the APF will send your doctor a complimentary comprehensive doctor packet for the acute porphyrias. Call  1.866.APF.3635  or email porphyrus@aol.com .  If your physicians have questions about the administration or use of Panhematin, we will then send an instruction form or arrange a consultation with a porphyria expert if needed.

For the many patients who are taking Panhematin®, please note that Recordati Rare Diseases, Inc. has purchased Panhematin® from Lundbeck Pharmaceutical.  Recordati Rare Diseases, Inc. has assured us that there should be no interruption in receiving the Panhematin® treatment and that the product is the same as it has always been.  In fact, for the next number of months, the telephone numbers and deliv…

Rare Diseases Info & Advocacy Did you know!

Rare Diseases Info & AdvocacyA rare disease in the United States is one that affects fewer than 200,000 people. As anyone who has searched for a diagnosis or suffered from a rare disease knows, it's easy for these illnesses to get lost in the crowd of more common conditions like cancer, heart disease and diabetes.

There is little incentive for healthcare professionals to learn the details of treating a disease when they may see only one or a handful of patients with it throughout their careers. From the drug makers' perspective developing products for a small and unfamiliar market is not terribly attractive. And with so many diseases that affect millions vying for scientific and clinical research money from government and other funders, small diseases like Porphyria can be easily forgotten.

Nearly 30 years ago, the APF took action to make sure that Porphyria, and rare diseases generally, would receive attention in Washington. The APF joined people like Marjorie Guthrie (wid…

A Story From James Beadles with EPP

James BeadlesType of Porphyria: Erythropoietic Protoporphyria (EPP)I live life with EPP! I was diagnosed when I was six by a dermatologist named Carl Anderson who has since passed away. Up until my diagnosis, my parents had heard it all from a number of doctors. I was allergic to a medicine, or I was allergic to weed killer, to simply saying, "it is just a rash." All the while, I would scream in pain. My parents would help by placing cool clothes on me.
I live in sunny southern California in a beach town. All my friends were into surfing and sailing. The outdoors is part of life in SoCal. I did not let my EPP stop me from enjoying the outdoors— though sometimes I paid dearly. I played baseball until high school. I learned to sail. I ran in triathlons and half-marathons. I snow skied and water-skied. I played golf. All the time I endured the funny looks and mean things said about the way I looked and had to dress. I did not let it stop me. Sure, it bothered me when I was youn…

Take Good Care of Your Body - It's the Only Place You Have to Live

Take Good Care of Your Body - It's the Only Place You Have to Live


Many people go through life not taking any responsibility for their own health. They drift along until something goes wrong then it is off to the doctor to get it fixed. It seems that people take better care of their car than their body and get it serviced regularly so it doesn't break down.You should think of your doctor as really just the breakdown service when the wheels fall off. What you do on a day to day basis is your 'self care' or maintenance and each of us is responsible for our own. Without this maintenance real health can never be achieved and real health is a great deal more than just 'not being sick' or an absence of disease.Real health is about peak performance physically, mentally and emotionally. You have a high level of strength and energy, emotional balance, a lean slim body, and a sharp and nimble mind. Your strong healthy body has the ability to fight off disease and illness …

Don’t worry, be happy: Tips to relieve anxiety

Don’t worry, be happy: Tips to relieve anxietyAnxiety can often be crippling. The next time you are anxious, find relief with these techniques.
Drive away you anxieties!Anxiety and worry can lend a helping hand if it can spur you to action. But if you’re constantly anxious — it can be a difficult problem — as it will become a hindrance to everyday life rather than motivate you to do better. It can sap you off all your energy, leaving you feeling powerless.Self-help techniques for anxiety relief:The next time you find yourself in that place, here’s what you can do to jump out of there.Breathe: That’s the best thing you can do to slow down. Take a few minutes, close your eyes and breathe deeply. Inhale slowly through your nose, hold your breath for a few seconds and breathe out slowly through your mouth. Do this at least 4-5 times and you’ll instantly feel relaxed.Put your thoughts down: When you’re anxious or worried, your mind is clogged with numerous ‘what ifs’ and worst-case scenario…

How Karen Eubanks was encouraged with the In-Touch Program

Karen Eubanks Type of Porphyria:  Acute Intermittent Porphyria (AIP)
My Hero, by Haley Eubanks
photo: Mother & Daughter, Karen and Haley Eubanks
Growing up, I've always had the fear of losing my mom. She's the strongest person I know and what makes her so strong is the will power and strength God gave her. My mom has a rare disease called acute intermittent porphyria. There's no cure, but there is a medicine called Panhematin that my mom receives every week through a port. This medicine controls her attacks, which she has every 21 days. There has been two times where I thought she was gone and the day would come that I dread the most.
When I was in kindergarten, my mom quit her job. I remember her telling me she was sick and wasn't able to work anymore. Since I was five years old, I didn't quite understand, and as time progressed the sickness never left. I knew then that the sickness would never leave. I remember coming home and my mom not being there. I was att…

Why join the APF In-Touch

Join APF In Touch Because porphyria is a rare disease (defined as affecting fewer than 200,000 sufferers in the U.S.), many newly diagnosed patients have never even heard of the condition before, let alone met someone else who suffers from it. We created the APF In Touch network to meet this need.
APF membership includes access to the In Touch network, through which members can contact others around the country who are dealing with porphyria. Some members form lasting friendships via email, telephone or old-fashioned letters. Others prefer to reach out to members in their region and organize face-to-face get-togethers.
If you are seeking support and fellowship, or are willing to be there for others who are dealing with porphyria, please fill out and send in the In Touch consent form to our address below. For more information on the APF In Touch network, contact Yvette at the APF office: 866-APF-3635 or 713-266-9617.
American Porphyria Foundation
4900 Woodway, Suite 780
Houston, TX 7705…

A Story about Michelle Bridges and AIP

Michelle Bridges Type of Porphyria:  Acute Intermittent Porphyria (AIP)I spent my whole life with unexplained symptoms. Sometimes my legs would give out, and I would have back pain, abdominal pain, slurred speech, difficulties walking and so forth. When I was 16, doctors found a mass in my brain. After removing what they could, all my health problems were blamed on “post surgical changes.”
In 2005, the doctors began to wonder about other causes. I was sent to see a gastroenterologist and diagnosed with pancreatitis. But there was no explanation for my abdominal pains that would come out of nowhere and then disappear. The doctors decided that is was due to a problem with my digestion and cut part of my bile duct. However, I landed back in the hospital with pancreatitis. Then nothing happened for about eight months.
At the end of July 2006, I began to have problems again. They put me on Reglan with the intention of running more tests and after about a week, I woke up feeling bizarre. …

Treatment Options

Treatment Options
The American Porphyria Foundation promotes comprehensive care necessary for treating individuals with Porphyria.  Although there is no cure for porphyria, there is treatment available for each type of the disease. In this section of our website you'll find detailed information on Panhematin® for acute porphyria (AIPVPHCP or ADP) and Lumitene for Erythropoietic Protoporphyria (EPP), tips on finding a local doctor and building a good working relationship with your doctor. Treatment for each of these diseases involves more than a single medication. Please see the disease descriptions for additional information. The medications mentioned in this section of the site are for acute porphyria and EPP only. For treatment options for Porphyria Cutanea Tarda (PCT)Congenital Erythropoietic Protoporphyria (CEP) and Hepatoerythropoietic Porphyria (HEP) please see the disease descriptions.Panhematin® for Acute Porphyria (AIP, VP, HCP, ADP) Panhematin® is a treatment for …

Clinical Studies: What’s in It for You?

Clinical Studies:What’s in It for You?All porphyria patients and their families can contribute tomedical knowledge of these diseases by volunteering for research.Each of the five Porphyria Clinical Research Consortiumcenters is recruiting patient volunteers with all types ofporphyria. Participation could include treatment trials, or simplyvisiting a Consortium clinic.I have been lucky enough to take part in two clinical studiessince my diagnosis with AIP in 1995. For me the most rewardingpart of each project was the one-on-one time spentwith a porphyria expert. As part of each study I was examinedby, and discussed my history with, a doctor who hadspent an entire career studying and treating the porphyrias.From a purely selfish point of view, I found it comforting to receivefeedback on my experience with AIP, and advice aboutfuture treatment, from physicians who have seen more than ahandful of cases. While I have always liked the doctors whocare for me at my local hospital, speaking wi…