Wednesday, May 29, 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 pathways
Porphyrias are diseases which arise due to genetic defects. If the specific genetic material is passed from both parents, a child will be born with a porphyria. In some instances, porphyrias can also be acquired due to chemical exposure or secondary diseases leading to similar genetic malfunctions. What is common to all porphyrias, however, is the accumulation of molecules in the body known as porphyrins or porphyrin precursors due to a malfunction in the pathway by which the body produces haem (heme). The accumulation of these molecules can then lead to acute and chronic symptoms in porphyrias, often onset by a ‘trigger’.
In EPP, for example, the phototoxic molecule protoporphyrin IX (PPIX) is accumulated in the skin which, when triggered by exposure to visible light, causes unbearable, untreatable attacks of dermal pain which can last for several days.
Advances in genetic therapy for acute porphyrias
In acute porphyria, the accumulation of other porphyrins and/or their precursors can lead to acute attacks on other organs, often presenting as nausea, vomiting and severe abdominal pain for which narcotics are often the recommended therapy. While a therapy exists – a haem arginate product is often used in these patients as a preventative and responsive therapy – acute porphyrias have long been considered as viable candidates for gene therapies which would better help manage their disease and eliminate or reduce the need for other therapies. At the 2011 P&P conference in Cardiff the gene therapies were discussed in depth, however this year preliminary observations from two teams were reported for the first time. The first is already in human clinical trials with a small cohort of patients being treated across Europe, while the second reported successful results in animal models with the plan to commence human studies in the coming year. Both teams reported encouraging data and/or anecdotes from their work. While many steps will need to be taken before conclusive evidence of the safety and efficacy of genetic therapy is at hand, it is indeed exciting to view these important advances for rare disease patients.
On EPP
In addition to the buildup of the phototoxic molecule PPIX in the skin in EPP, PPIX can also accumulate in the liver, leading to liver failure in a small number of patients (you can view one EPP patient discussing her experiences with liver transplantation following liver failure on our YouTube channel here). Traditionally quoted as “1-4%” or “about 5%” of patients, the reality is that the chances of liver failure in EPP are not really understood, nor is it possible to predict which patients may suffer from liver failure. Presenting this in some depth, Dr Staffan Wahlin from the Karolinska Institute highlighted that there is still much to learn about liver toxicity in EPP and that patients needed to be closely monitored, perhaps every 6-12 months, as well as counseled on the traditional risk factors for liver failure.
Data from Clinuvel’s European Phase III confirmatory study (CUV029) of SCENESSE® in EPP were presented in an oral abstract by Dr. Janneke Langendonk of the Erasmus MC University Hospital, Rotterdam, representing the eight study centers which took part. After closely reviewing the study’s setup and objectives, Dr Langendonk gave a review of both the statistical results and the reports from her patients, acknowledging both indicated a positive efficacy profile for the drug. Dr Langendonk also reviewed the safety profile of afamelanotide in EPP from her experiences, suggesting that the adverse events seen in the studies which were drug related were not serious.
A collaborative response
For the second time in the P&P conference’s history, the final day of presentations was devoted to an international porphyria patient day – encouraging interaction between both physicians and patients to gain a better understanding of the porphyrias. In all, more than a dozen nations were represented in the room, with presentations on all forms of porphyrias simultaneously translated from English to German.
For me, this international delegation gave the best indication yet that the community surrounding porphyria research – clinicians, patients and industry – has dramatically improved its ability to collaborate across borders with the goal of finding therapies for porphyria patients. Initiatives such as EPNET, the American Porphyrias Consortium and the Protect Our Future program have gained traction in recent years and are better integrating to achieve common goals. This kind of approach is vital in rare diseases which are difficult to diagnose, lack effective treatments and are generally poorly understood by those outside the immediate field. We’ll be working hard to assess the role of Clinuvel’s drug as an effective therapy for patients who need it most.
- Lachlan

Remember Research is the key to your cure!

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 delivery services that were available through Lundbeck Pharmaceutical will remain the same, as well. 


FYI  For questions from healthcare professionals regarding general use and administration of Panhematin®, please call Recordati Rare Diseases at 1-866-402-8520.  Your call will be answered by a member of the Lundbeck staff on behalf of Recordati Rare Diseases until late 2013.   Your physician or hospital pharmacy can order Panhematin® through a wholesaler of their choice.  Healthcare professionals can call 1-888-514-5204 to receive help with regular and emergency shipments, Monday thru Friday, 9 am to 6 pm EST.  After hours and emergency orders, call 1-800-673-6723.   In an emergency event, when the hospital/physician/wholesaler does not have Panhematin® in stock, Recordati Rare Disease will ship directly from its Lavernge, TN distribution site via an expedited delivery service to anywhere in the U.S.-usually within 12-14 hours. 


During the 2013 International Porphyria Congress Patient Day meeting, Dr. Jean Charles Deybach spoke about the great benefit of early treatment withheme therapy ( Panhematin and Normosang)

  • Rapid clinical improvement.
  • Decreased urinary ALA/PBG 2-3 days
  • Mean abdominal pain duration 2-3 days
  • No further severe neurological complications
  • No major side effects in acute administration
  • Safe use during pregnancy (Badminton & Deybach, 2006; Marsden & Rees, 2010)


Remember Research is the key to your cure!

Tuesday, May 28, 2013

Rare Diseases Info & Advocacy Did you know!

Rare Diseases Info & Advocacy

A 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 (widow of the great American folk-singer Woody Guthrie, who died in his 40s of Huntington's Disease) and other rare disease advocates to form the National Organization for Rare Disorders (NORD). Actor Jack Klugman helped give the campaign for rare diseases awareness national prominence, featuring the rare disease problem on two episodes of his program Quincy, M.E., and testifying before Congress.

In 1983, President Reagan signed the Orphan Drug Act into law, and the FDA established an Office of Orphan Products Development. The NIH Office of Rare Diseases was established in 1993, so two agencies now share responsibility for ensuring that rare disease research and treatment needs remain on the Federal health care agenda.

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

A Story From James Beadles with EPP

James Beadles

Type 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 young. It hurt. However, as I got older I saw it as other people's problem, not mine. I was living my life the best way I knew how. I was not going to let EPP stop me from enjoying life.
I had a doctor once who told my parents I should move to Seattle where it was cloudy more often. He said I should learn to play chess and ping-pong—indoor sports instead of baseball and golf and sailing. My parents would hear nothing of it; they knew I was going to live my life the way I wanted to live.
I have had two liver transplants because of my EPP. The porphyrins dumped into the liver and made it cirrhotic. I had my first transplant when I was 27 years old. The liver lasted 12 years, during which I was able to continue my normal active lifestyle. I married and had two kids. Neither of my kids shows symptoms of EPP.  In fact, one wants to be a lifeguard!  Both of my children can run around on the beach all day without being burned, well, aside from basic sunburn. Their mother and I lather them with sunscreen when they go out to the beach or are playing soccer or swimming. The boys are six and eight and I am confident they do not have EPP.
My second transplant was more dramatic. I was 39, my liver and kidneys failed, and I went into a coma. I was transplanted three weeks later and subsequently spent the next eight months in UCLA Medical Center. I was on dialysis for six months after which by some miracle my kidneys began to work again. The transplant and hospitalization took a great toll on my body. I am no longer able to be as active as I was. I have neuropathy in my feet from the kidney failure and nerve damage from being in bed for so long. I am twenty pounds underweight and weak. I like to joke that I am a 42-year old living in a 92-year-old body. I still live with the EPP and who knows how long this liver will last. I take infusions of Panhematin to slow the progression of porphyrins into the liver (this is the hope anyway). The key is I am still living.
I still endure the looks from people, like the other parents at the soccer field when I watch my kids play. I do not care if they think it is odd someone wearing long pants, long sleeves and gloves on a 90-degree SoCal day. To me, they have a problem, not me. People do what they have to do to cope. I am not going to let EPP keep me from enjoying my life and enjoying watching my kids grow up. My kids understand that Dad has to be careful of the sun. They understand Dad is not as strong as he once was because of his surgery. They understand why Dad has to wear protective clothing in the pool; they are just happy that Dad is in the pool with them! Grown-ups should be so understanding.
I hope you enjoy my story and I am anxious to hear how others with EPP are LIVING, not just coping or suffering. Someday there will be a cure for this, and I plan on being around to see it!


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

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 that stalks and pounces on so many people cutting their lives short after years (even decades) of pain, disability and ill health.
Diseases such as heart disease, cancer and diabetes are labeled 'lifestyle' diseases, caused by the way you live your life. Caused by what you do and don't do each and every day in the way of proper nutrition and proper exercise. These diseases are preventable and rob families of their loved ones well before their time.
It is important that our life span is also matched by our health span. Our health is important and we tend to take it for granted until we find ourselves out of health. The knowledge about what it takes to remain healthy and well is vastly increasing every year, which has enabled people to live longer, and to treat more illnesses.
Yet we are producing children today that are now unhealthier and may even die before their parents. It is a sad fact that children being born today are predicted to have a 20-30 year shortened lifespan.
Deficiencies create situations in which millions of people world wide function well below their potential. These deficiencies are lack of proper nutrition and proper exercise. It can mean your blood doesn't pump efficiently, your digestion doesn't break down food properly, your weight keeps increasing, you have constant aches and pains, don't feel well, aren't sleeping properly, are depressed and the list goes on.
Yet your health cannot be left for your doctor to take care of. Your doctor does not look after your health; your doctor only looks after your illnesses. If your doctor says you are well and healthy it means that things have not got so bad that there are enough actual symptoms for a disease diagnosis.
But this can also mean a person it still far from being 'well' and they usually do not feel well either. In fact they are often called the 'walking wounded' as they are not sick enough to be bedridden (yet) but not well to function properly either.
It has been estimated 80 percent of diseases are caused by the lifestyle choices we make every day. Many people have good intentions and mean to get started on a proper exercise program and eat better but the trouble is it is much easier to put off doing things until tomorrow, and for many tomorrow never comes.
So what are you doing, now, today? Are you working on keeping your muscles and bones strong with strength training exercise a couple of times each week? If not give yourself a good talking to and get yourself started so your body doesn't let you down somewhere down the track. It is all about prevention not waiting till there is a problem then looking around for someone to try and fix it as it will likely be way too late.

Remember - take good care of your body - it is the only place you have to live.
Remember....Research is the key to your cure!

Sunday, May 26, 2013

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

Don’t worry, be happy: Tips to relieve anxiety
Anxiety 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 scenarios. Putting them down brings about clarity and also provides a safe place to vent out.
Don’t worry, be happy: Tips to relieve anxiety
Anxiety 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 scenarios. Putting them down brings about clarity and also provides a safe place to vent out.
Take a hot bath: A hot bath can be very soothing. Add some bath salt and just soak in. If you can, light some aromatic candles, play some ambient music and create your own safe get-away place in your bathroom. If you don’t have a bath tub, you can still light some candles, play music and take a hot shower. Visualise the water washing away all you worries and anxieties, this exercise is known to be very effective.
Stay away from caffeine: Tough one, isn’t it? Caffeine being a stimulant can further propel anxiety and worries. So steer away from coffee and black tea and do yourself a favour.
Sip on herbal teas: Alternatively, try some soothing teas. Rose tea, green tea, chamomile or other such herbal teas can be very helpful when you’re worried. They can help calm you down and soothe your worries.
Bite into a chocolate: Chocolate releases feel-good chemicals that make you happy, one of them called phenylethylamine, is released when you fall in love. So they next time you feel you’re down in the dumps with worries and anxiety, bite into a piece of yummy chocolate for some instant relief. Don’t make it a habit though and make sure you address the cause of that anxiety once you’re calm.
Try visualisation: This technique is hailed as an effective means of stress relief. So when you’re feeling anxious, close your eyes and try a guided imagery. First breathe deeply and relax.
Here’s one visualisation you could try: 
§  Picture a serene setting such as a clear blue sky, grass fields, an angular tree, and a soft stream.
§  Imagine yourself sitting there.
§  Go over all the things that are worrying you.
§  Feel the height of emotions you’re experiencing.
§  Imagine throwing away each worry into the stream. See it dissolve in the water.
§  Once you’re done discarding each of those worries you have, imagine walking over to the stream.
§  Take a dip in that stream of fresh, cool water… Watch any residual worry wash away.
§  Walk back, and visualise the glowing sun dry you.
§  Come back to reality and rest for a bit before you jump into anything else.
Go for a walk: A ten-minute walk can be very relaxing. Concentrate on your breathing while you’re at it. And try and stay mindful.
Aroma therapy: Certain fragrances can be emotionally uplifting. Light an incense stick, or a scented candle. If not that, you can also put a few drops of your favourite scent onto as napkin and take a whiff. Choose between lavender, jasmine and rose, as they are known to be relaxants. Now go, calm yourself with a soothing fragrance.
 Take a hot bath: A hot bath can be very soothing. Add some bath salt and just soak in. If you can, light some aromatic candles, play some ambient music and create your own safe get-away place in your bathroom. If you don’t have a bath tub, you can still light some candles, play music and take a hot shower. Visualise the water washing away all you worries and anxieties, this exercise is known to be very effective.
Stay away from caffeine: Tough one, isn’t it? Caffeine being a stimulant can further propel anxiety and worries. So steer away from coffee and black tea and do yourself a favour.
Sip on herbal teas: Alternatively, try some soothing teas. Rose tea, green tea, chamomile or other such herbal teas can be very helpful when you’re worried. They can help calm you down and soothe your worries.
Bite into a chocolate: Chocolate releases feel-good chemicals that make you happy, one of them called phenylethylamine, is released when you fall in love. So they next time you feel you’re down in the dumps with worries and anxiety, bite into a piece of yummy chocolate for some instant relief. Don’t make it a habit though and make sure you address the cause of that anxiety once you’re calm.
Try visualisation: This technique is hailed as an effective means of stress relief. So when you’re feeling anxious, close your eyes and try a guided imagery. First breathe deeply and relax.
Here’s one visualisation you could try: 
§  Picture a serene setting such as a clear blue sky, grass fields, an angular tree, and a soft stream.
§  Imagine yourself sitting there.
§  Go over all the things that are worrying you.
§  Feel the height of emotions you’re experiencing.
§  Imagine throwing away each worry into the stream. See it dissolve in the water.
§  Once you’re done discarding each of those worries you have, imagine walking over to the stream.
§  Take a dip in that stream of fresh, cool water… Watch any residual worry wash away.
§  Walk back, and visualise the glowing sun dry you.
§  Come back to reality and rest for a bit before you jump into anything else.
Go for a walk: A ten-minute walk can be very relaxing. Concentrate on your breathing while you’re at it. And try and stay mindful.
Aroma therapy: Certain fragrances can be emotionally uplifting. Light an incense stick, or a scented candle. If not that, you can also put a few drops of your favourite scent onto as napkin and take a whiff. Choose between lavender, jasmine and rose, as they are known to be relaxants. Now go, calm yourself with a soothing fragrance.


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

Wednesday, May 22, 2013

How Karen Eubanks was encouraged with the In-Touch Program


Karen Eubanks

Type of Porphyria: 
Acute Intermittent Porphyria (AIP)
Karen and Haley Eubanks
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 attached to my mom, like any other young child and her not being there felt like something was always missing and a part of me was lost. No one would explain to me what was really going on because of my age. I remember seeing her in the hospital and thinking that wasn't my mom. But it was, just a different view of her-a view a child never wants to see of their mom. I only went to the hospital twice because my family wanted to keep me focused and not startle me.
My grandmother, my mom's mom, was like a second mother to me. It was hard being around her at times because she reminded me exactly of my own mom. Looking at my grandmother, during that time, was hard because her face was discolored, worried, and full of pain. I stayed with my grandmother during the whole time that my mom was in the hospital, because our family was at loose ends with what the disease was putting us through.
As time progressed, my mom returned home. I'm not sure how long she stayed at the hospital but it was for over three months and as a child I told people it felt like forever. When she came home, she stayed for quite some time before going back into that negative stage.
In my sophomore year, I was going through drama with friends and I wasn't on top of my game in soccer. By this time I fully understood my mom's disease even though I had to bug people, I still received answers. During February, my mom was thrown into an attack that left her in ICU. When going to see my mom in ICU, she didn't know who I was, she couldn't talk, and her skin made her appear as if she was already dead. The condition she was in was unbearable for me and thinking about the pain she went through made my pain increase. School was supposed to be my escape but it made things worse. My body felt like shutting down but it never did. I couldn't close my eyes at night because I was afraid I would see her die in my dreams. I felt like there was no purpose in life. If my mom passed, I would make sure I was right behind her.
After seeing her one night at her worst, I broke down right there in the hospital. My legs became weak, my stomach cringed tight, my arms felt like they were falling off, my head felt like it was going to burst into tiny pieces due to the pressure, and my heart was nowhere to be found. It had vanished from my flesh. With my head down, I walked out of the hospital, straight outside into the cold night air, until a hard rock body slammed into my body with arms embraced around me like they were locked. I didn't look to see who it was because a hug was all I needed. After a while, I realized it was my dear friend, who I like to call my "lifeguider." Any time I have a problem she's just a phone call away and she knows exactly what to say. We talked for an hour outside the hospital, and she said, "I was on my way home and I was just about to call you and as I passed by the hospital, something made me stop to check on you. I didn't know exactly where your mom was located in the hospital, but somehow I knew I would find you."
The next two months felt like two years. My dad was under a great deal of stress ten times more than I was. I'd never seen him like that and I knew this wasn't him. I was used to the pain by now. I wouldn't cry anymore because I didn't think my body could. I never ate because I was never hungry anymore. Like I said, my body shut down-things I did before were no more. Every day, I repeated the same process of waiting for time to pass and seeing what the future had in store for me.
Finally, after those two months, my mom returned home. It felt like the day of redemption and a weight had been lifted off my whole body. In a week, she had returned to her normal self again. It was as if God was her and she couldn't be hurt anymore.
Karen shares her own story about friends made through the APF In Touch network here.

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

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 77056
What the In Touch network has done for me:
I want to share my experience with the In Touch network provided to us by the Foundation. I was diagnosed with AIP after 18 months of symptoms. You know the severe abdominal and back pains with fatigue and nausea. You all know the drill. The scariest part was the rarity of this disease. Every doctor tells you they're not that familiar with it, and very little was actually known about it. People look blankly at you when you try to explain how you feel. I don't have to elaborate to you all that also have it. So I decided to communicate with someone else that had this illness.
This was back in 2001, the time before the wonderful website that we are so blessed with now. So I opened the newsletter and looked at the names before me. I knew that I wanted someone that also had AIP. So I closed my eyes and asked God to help me chose the right one. I opened my eyes and there she was. Lori Brown from Madison, Alabama. I am from Arkansas so she was geographically close to me. I emailed her and introduced myself to her, telling her all of my experiences so far and asked if she would like to share "war stories." She emailed back and was more than happy to do just that. So over the next 7 years Lori and I battled porphyria together.
After a while Lori and I began calling each other on the telephone. Some of our conversations lasted for two hours! We discussed how the disease affected our marriages, children and our lives in general. I don't know if it was misery loves company but I can tell you she helped me so much. To have someone who understands what you are going through is great. I didn't feel alone.
On October 16, 2008 Lori Brown from Madison, Alabama passed away. The battle with porphyria is over. She is free. I never got the privilege of seeing her face or giving her a hug. But she was one of my best friends. So if you are thinking about getting in touch with someone and just haven't done it yet I encourage you to find yourself a Lori too. Find several. I have others as well: Rose, Mira, Judy, Jennifer and Troy. Or attend a meeting scheduled near you. Or reach out and host one yourself. I can assure you it will be a fulfilling experience.
Karen Eubanks
Conway, AR

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

Friday, May 17, 2013

A Story about Michelle Bridges and AIP


Michelle Bridges

Type of Porphyria: 
Acute Intermittent Porphyria (AIP)
Michelle BridgesI 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. I was in a haze and unable to function. I had called a friend and asked her to take me to the hospital. I turned to walk down the hall towards my bedroom so I could lie down, but my legs would not move. I remember standing there thinking “you bend the knee and extend the leg.” By the time I had dragged myself down the hall, my arms wouldn't cooperate and I fell over.
When the paramedics got the house I swear I asked if I was having a stroke. My son says I just lay there with my tongue hanging out, in and out of consciousness and seizure activity.  I don't remember. The ER released me to my husband with the diagnosis “allergic reaction.” The following day I could not speak. Again, I went to the ER, but this time it was to a different hospital, one covered through our insurance. The doctor told my husband I was being over-medicated, and then a student at the hospital noticed the color of my urine and suggested to the doctor that my condition might be porphyria. She was correct!
I don't remember anything from the end of 2006 to 2008. Treatment for my symptoms made some things worse. I had been active in my church and homeschooled other people’s children as well as my own, but I had to stop educating others and withdrew from some activities at church.
We have had a hard time finding doctors who will treat me. This disease is rare and doctors aren't experienced with it. With my new oncologist’s gentle touch and the support of the staff at our new hospital, I have become more active. I am not spending as much time in the hospital, and I still homeschool my children, write curriculums and resource guides, and do crafts for craft fairs and whatever else I can to support the church and help others. I do all of these activities from my bed because I am too weak and have too much pain to leave the bedroom for long stretches and I get sick so easily. But I do like to have some level of activity in my life and so I try to contribute where I can while being careful of my health.


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

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® is a treatment for the acute porphyrias manufactured by Lundbeck Inc. in Deerfield, IL. It is a lyophilized form of alkaline heme that has to be reconstituted immediately prior to administration. Panhematin® should be infused into a large peripheral vein. A large central line or port may be used, if available.
Doctors administer Panhematin® to correct heme deficiency in the liver and repress production of porphyrin precursors. Panhematin® almost always normalizes porphyrin and porphyrin precursor values. Three to four mg/kg of Panhematin® given once daily for four days early in an attack produces a highly beneficial effect in most patients. Commonly noted are decreases in pulse rate, blood pressure, abdominal pain, as well as decreased levels of urinary porphobilinogen (PBG). These effects can occur within a day.
Panhematin® is the only commercially available heme therapy in the United States. (Heme arginate is another preparation, but is only available outside of the U.S.) While a high carbohydrate diet is recommended for patients with porphyria, it is not regarded as highly effective by itself. Intravenous glucose therapy is a treatment option for mild attacks. When heme therapy was introduced as a treatment, it was recommended that it be initiated only after several days of glucose therapy was unsuccessful.
Today, physicians experienced in treating patients with attacks of porphyria recommend early use of Panhematin® rather than waiting to see if glucose alone will be of decisive help.

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


Clinical Studies: What’s in It for You?


Clinical Studies:
What’s in It for You?
All porphyria patients and their families can contribute to
medical knowledge of these diseases by volunteering for research.
Each of the five Porphyria Clinical Research Consortium
centers is recruiting patient volunteers with all types of
porphyria. Participation could include treatment trials, or simply
visiting a Consortium clinic.
I have been lucky enough to take part in two clinical studies
since my diagnosis with AIP in 1995. For me the most rewarding
part of each project was the one-on-one time spent
with a porphyria expert. As part of each study I was examined
by, and discussed my history with, a doctor who had
spent an entire career studying and treating the porphyrias.
From a purely selfish point of view, I found it comforting to receive
feedback on my experience with AIP, and advice about
future treatment, from physicians who have seen more than a
handful of cases. While I have always liked the doctors who
care for me at my local hospital, speaking with an expert
gave me added confidence that I am following the best
course of treatment for me.
There is also the greater good to be served by taking part in
a study. Patients who volunteer for clinical research can be
proud to know that they are adding to medical knowledge
about porphyria, making it possible for other patients to receive
better care. Understanding that porphyria is a family
disease makes this easy for anyone to relate to.
— Mira Geffner

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


Advance Care Planning- Prepare NOW!

Making decisions in health care and ethics. Why prepare?  Prepare for the unexpected. It seems we often go through the motions of prepar...