This blog is dedicated to all the Porphyria patients worldwide.
The American Porphyria Foundation will provide updates and information here, as well as on the main site - http://porphyriafoundation.com .
Monica Fleegels Fundraising / FDA letter writing / Porphyria Awareness Campaign.
"Last summer, due to the tireless efforts of the APF , I was able to participate in Phase III clinical trials that gave me relief from the pain of EPP (Erythropoietic Protoporphyria). For the first time in my life , I spent time in the sun with my family and friends!! The APF was able to convince the FDA of the importance of continuing the trials and now we need to inform the FDA that they need to approve Scenesse , so all who suffer from EPP can spend time in the sun. Through a letter writing campaign and your donations, we can assist the APF with this major endeavor." Monica Fleegel
Monica developed a very creative idea to raise Porphyria Awareness, as well as a means to fund the APF Physician Education program and acquire letters from family and friends to advise the FDA about the importance and need for treatment for EPP. Monica prepared a fundraising event on the APF - FirstGiving fundraising website. Plus, she hosted a fun event to gather her friends and family together to write letters to the FDA about how EPP has affected the Fleegel family.
Monica reported, "So far $2,270.00 has been raised, about 20 letters and 50 people showed up to the fundraiser. It was very successful! People were so generous."
We sincerely thank Monica and all of her generous family and friends who participated in this wonderful event. The members of the Fleegel family with EPP have been very active with the APF, even participating in a documentary on the subject shown in Europe.
Cookie made by Monica's Daughter.
National Porphyria Awareness week is held once a year. It is up to us all to continue Porphyria Awareness every chance we get. The APF has some great materials that you can carry with you when you visit your Doctor, or the Emergency room or any other contact you have with the medical community.
If you would like some of the Porphyria educational supplies, please contact the APF office: 1.866.APF.3635 and request them today.
RareConnect.org, the platform created, monitored and run by patient organisations EURORDIS and NORD, continues its mission of bringing rare disease patients together, across borders and beyond language barriers
Paris, 30 April, 2013 –RareConnect.org, a flourishing rare disease online network that brings together thousands of frequently isolated patients, families and patient groups, from across the globe, celebrates the launch of its 40th community. Each of RareConnect’s disease specific communities is monitored, offering a safe place for exchange. Information and comments are translated into five languages, allowing users to communicate with each other despite language differences.
This 40th RareConnect community offers those caring for patients with rare undiagnosed brain diseases a place to come together and connect. The community was created in collaboration with several patient support groups including the Wilhelm Foundation,SWAN UK, and SWAN USA.
Commenting on the launch of the new community, Wilhelm Foundation founder Helene Cederroth said, “This community represents an enormous step forward to better understanding undiagnosed brain diseases. It is a big opportunity for the community to make its voice heard and hopefully it will encourage specialists from all over the world to participate so that one day we hope it can lead to diagnoses.”
RareConnect launched in 2009 as part of the strategic partnership between the world’s two most established rare disease patient organisations, EURORDIS (European Organisation for Rare Diseases) and NORD (National Organization for Rare Disorders). The platform provides a safe, moderated online social network where individuals affected by rare diseases can connect with others, share common experiences and find helpful information and resources.
Organised into 40 disease specific communities, the network now counts more than 4,300 members and involves over 300 patient associations in the governance and growth of the 40 communities. Three full-time community managers support the moderators, animate and promote the project. Volunteer moderators from many of the member groups take an active role in their respective communities.
Available in five languages (English, French, German, Italian and Spanish) RareConnect is unique in that it offers a human translation service to patients who need to exchange valued experiences and information with members from different countries, speaking different languages. This service available free-of-charge allows discussions, articles and patient stories to be shared and understood across the five main European languages, permitting people to learn how others are coping with their rare diseases in different countries.
EURORDIS Chief Executive Officer Yann Le Cam said, “RareConnect brings together rare disease patients in a collaborative way, across borders. Its rapid success is beyond our expectations. Watching it expand and taken to the hearts of hundreds of patient groups as a safe place they can call their own is our inspiration.”
RareConnect stands apart from other rare disease networks by not carrying advertising or sharing data with any third parties. It hosts thriving communities that include rare conditions such as Dravet syndrome, Multiple System Atrophy, and Behcet's disease. Visit the RareConnect website for a full list of the current rare disease communities.
RareConnect project leader at EURORDIS, Denis Costello, said, “We developed RareConnect in response to the need of rare disease patients to connect with each other and to have access to reliable information from trusted sources. Patients - or those caring for them - frequently find it difficult or impossible to obtain a diagnosis, or to access relevant information. Often there is a lack of medical expertise where they live. RareConnect helps patients and families to find what they need, including information they can take back to their own doctors.”
Rare diseases are life-threatening or chronically debilitating diseases. Due to the low prevalence of each disease, medical expertise is rare, knowledge is scarce, care offering inadequate, and research limited. Very few cures exist. While each disease is rare, collectively they affect more than 60 million people in Europe and the USA alone. Despite their great overall number, rare disease patients are the orphans of health systems, often denied diagnosis, treatment and the benefits of research.
The European Union considers a disease as rare when it affects fewer than 1 in 2,000 citizens. Approximately 80% of rare diseases have a genetic origin. Over 6000 different rare diseases have been identified to date, affecting an estimated 30 million Europeans collectively.
EURORDIS is a non-governmental patient-driven alliance of patient organisations representing 571 rare disease patient organisations in 52 countries. We are the voice of 30 million people affected by rare diseases throughout Europe.
Further details concerning EURORDIS and rare diseases are available at:www.eurordis.org
NORD is a non-profit organisation representing all individuals and families affected by rare diseases in the USA. It was established in 1983 by patient organisation leaders who had worked together to get the Orphan Drug Act adopted. NORD provides programmes of education, advocacy, research and patient/family services to improve the lives of Americans affected by rare diseases. Learn more about NORD at www.rarediseases.org
EURORDIS Web Communications Senior Manager & RareConnect Leader
Please show your support and don't forget: The last day to place an order for the APF Awareness will be May 6th. If you plan to make a purchase remember 100% of your funds go directly to the APF. For ordering questions/placing an order email me American Porphyria Foundationporphyriaorders@gmail.com Remember~ Research is your key to a cure!
SCENESSE® (INN: afamelanotide) is Clinuvel's proprietary first-in-class photoprotective drug. Clinuvel has submitted a marketing authorisation application (MAA) for SCENESSE® to the European Medicines Agency for the orphan diseaseerythropoietic protoporphyria (EPP). Further studies of SCENESSE® are underway as a repigmentary agent in vitiligo and as a photoprotective for organ transplant recipient (OTR) patients.
SCENESSE® (pronounced "sen-esse") acts by increasing the levels of melanin in the skin; and shields against UV radiation (UVR) and sunlight. SCENESSE® is delivered via a subcutaneous dissolving implant approximately the size of a grain of rice. Increased pigmentation of the skin appears after two days and lasts up to two months.
Alpha-Melanocyte Stimulating Hormone (α-MSH) is a naturally occurring peptide hormone which is released by skin cells in response to the stimulation by ultraviolet radiation (UVR). α-MSH has a very short half life (seconds) in the blood stream, sufficient to reach and stimulate other skin cells (melanocytes) which in turn produce and release melanin, a dark brown pigment. Melanin is known for its photoprotective effect.
The skin's response to damage from UV radiation - Human tanning response
SCENESSE® is a chemical analogue of α-MSH and is a linear peptide with 13 amino acids. Two amino acids present in α-MSH have been changed and amplified to produce afamelanotide. This small change creates a more stable molecule with increased potent biologic effects and a longer half life (minutes). SCENESSE® increases melanin content of the skin without exposure of the skin to the damaging effects of UVR.
Clinuvel is currently trialing SCENESSE® in a range of light and UV related skin disorders (photodermatoses) and as a repigmentation therapy in vitiligo. It is proposed that SCENESSE® will provide prophylactic treatment to patients suffering from photodermatoses by stimulating melanin to act as a photoprotective filtering the impact of UV to the skin. In vitiligo the drug is being evaluated in combination with narrowband ultraviolet B phototherapy (NB-UVB).
Over 700 patients have been treated with SCENESSE® in more than 20 clinical trials over several indications. Results to date suggest that the drug is well tolerated. In EPP trials, SCENESSE® has been shown to reduce the incidence and severity of phototoxic reactions.
Biomimicry of the human tanning response
Clinuvel Pharmaceuticals Ltd is an ethical pharmaceutical company focused on providing photoprotective care of the skin. Clinuvel is working closely with global regulatory agencies to develop SCENESSE® as a prescriptive drug. Clinuvel has been developing and testing SCENESSE® since 2000. Our development is focused on the SAFE and controlled administration of the drug substance.
WE STILL NEED YOUR PERSONAL LETTERS ON HOW THESE DRUG HAS HELPED YOU! TIME IS RUNNING OUT. CONTACT THE APF 866-APF-3635 FOR MORE DETAILS. WE NEED THIS DRUG APPROVED.
Thank you to all who participated in the National Porphyria Awareness week.
We would like to sincerely thank everyone that was involved in last weeks National Porphyria Awareness activities.
The following is an example of one of the Campaigns one of our young EPP members Alessia Callahan does every year for Porphyria Awareness Week. We are so very proud of her.
Student Educates Classmates during National Porphyria Awareness Week
Thomas E. Bowe student Alessia Callahan speaks to her fifth-grade class about Erythropoietic Protoporphyria during National Porphyria Awareness week.
GLASSBORO - Alessia Callahan faces challenges that other 11-year olds don't even have to think about. While those challenges make her unique, her courage in facing them makes her extraordinary. Read the full article here.
Stay tuned. We will be sharing more Porphyria Awareness campaign experiences with you in the near future.
I wanted to take a few moments to
suggest signing up for these groups.
These groups are designed for you at no cost.
When you sign up for
you are signing up to participate in research projects answering questions
about your type of Porphyria, you have questions, your chance to support these
programs for possible medications and cures are so necessary. These are great Expert Doctors that are
interested in learning about you and your family. Sometimes it’s a simple process of answering
questions, a phone call, a trial drug, or a blood & urine sample! So please sign up and explore this site.
Next we have the http://porphyriafoundation.blogspot.com. This is supported by the American Porphyria
Foundation. It is also free to
join. Learn about upcoming events, read members stories,
be encouraged that you are not alone.
Try a recipe, learn some tips from the Experts. Be INVOLVED!
Do you enjoy interacting with other
patients, doctors from all over the world that also have Porphyria? I know I do.
When you sign up for free to a program called: RareConnect~https://www.rareconnect.org/en you
can find diagnosed Patients with all types of people all over the world, new
and exciting news, learning opportunities, announcements, how medicine and
trials are making progress, start discussions get answers. Learn how Porphyria
affects each one of us.
So what are you waiting for, please
join your support, experiences and encouragement are what we all need. Please show your support for such programs
they may not always be available to us.
My name is Kelly Story and I live with my husband, Chad, and two cats in Kissimmee, FL. In July of 1999, one month after our wedding, I was out of town on business, and I noticed tiny little water blisters all over my hands. The blisters didn't itch and were not painful. Although I found them to be very odd, I didn't worry much.
Over a short period of time, my skin became extremely fragile. It seemed like almost anything would cause a scrape on the skin of my hands. Plus, the blisters got much worse. My hands looked like something out of a horror movie. I was so embarrassed all of the time, and I cried a lot. I went to a dermatologist. After two visits, he told me that he was fairly certain that I had PCT but suggested that I go to a specialist. After several humbling tests and weeks of waiting, I was officially diagnosed with PCT.
The doctor said that I would have to start phlebotomies. This meant that over a pint of blood would be taken from me at one time. Even after I began the phlebotomy treatments, the blisters moved to my arms. These blisters itched tremendously. My poor husband didn't know what was happening, because, I would wake up in the middle of the night with a frenzy of scratching and crying. The itching was unbearable. I would feel so guilty afterwards. After all, I was receiving treatment for my condition and knew that I did not have a fatal disease. There are other people in the world with so much more serious problems. But, it was still uncomfortable, and my hands and arms were just so ugly.
I was tired a lot during the six month or so period I was having the phlebotomies. The doctor said that I would most likely be temporarily anemic. This was the result of having the blood taken from me. I used to do aerobic exercises at least four times a week, but that stopped. I also got headaches quite often. Finally, I was in remission. No more cuts, no more blisters, and no more itching.
I lived for a while with the dark scars on my hands from all of the sores and blisters and several lighter ones on my arms. But now, the scars have faded tremendously. You can't see any on my arms, and the ones on my hands are very pale. It may sound vain, but I never thought I would have pretty hands again, and now I do. To this day, I still cringe if I accidentally knock my hand into something. But, I am always relieved when I look down and see no scrape or cut.
Since being diagnosed with PCT, I've taken estrogen and alcohol out of my life, and I try my best to stay out of the sun. It's hard living in Florida, but I just keep applying that good old sunscreen. I'm very blessed to have such a supportive husband. I told Chad on our first date that I was high maintenance. Boy, neither one of us knew how much!
“When you SEEK HAPPINESS for yourself, it will always elude you. When you seek happiness for OTHERS, you will find it yourself.” ~ Wayne Dyer
What is it that motivates you in life? What are the things you THINK are making you happy, and what are the things that really make you happy? Are you able to observe yourself from time to time and see whether the things you chase after are really the things you want for yourself?
I think that most of us, want to want more than they want to have, because when they receive that which they were after, they go on to the next thing, and the next thing, and this is how most of us spend our lives, running after something that we think it is outside ourselves, believing that our happiness lies in things, in other people, in different places, etc., and we rarely or never, stop to observe ourselves and our behavior, we rarely or never stop to think whether we are sane or insane for doing so.
It is never too late to return to yourself, never. I challenge you to do this. I challenge you to start observing your thoughts, your desires, your feelings and behaviors, I challenge you to become the observer of your own live, and believe me, by doing so, you will discover so many new and incredible things about yourself, you will find out so many things about your real powers, about the meaning of life, and about the meaning of real happiness.
From my own experience, I will have to tell you that, whenever I see happiness as a selfish act, when I think that by going to a certain place, having a certain thing, etc. I will be happy, almost 100% of the time I am wrong. What I have discover over the years, after doing so much introspection and observing myself and the many people around me, is that happiness is not a place you go to, happiness is not a person, happiness is not a dream you achieve, happiness just is. Is this simple.
We will find happiness the moment we stop to see the self as self, the moment we start to see ourselves as being one with the whole world. No matter where you are and no matter what you do, no matter how you look and no matter how much or less you have, etc., if you are not happy in that specific situation, if you are not happy with what you have and with who you are, you will not be happy if you change the environment., if you change your looks, your job, your partner and your friends. You may delude yourself into thinking otherwise, but in the end, you will go back to feeling the way you do in this exact moment, and you will discover that happiness is not outside yourself.
We don’t want to accept this because if we do, we will have to wake up and take responsibility for how we feel, for our actions and behaviors, we will have to take responsibility for our own lives, and it can be somehow challenging to do so. For those people who are in this journey of self discovery and self mastery, as time goes by, as they will travel farther and farther away, they will discover what happiness is all about, and what really makes their heart sing, what really makes them glow, and they will discover that it is not money, it is not big houses and shinny cars, but rather having a meaning, a purpose in life, larger than themselves, larger than life.
It is always about giving, about sharing what’s best about ourselves with others, because, when we do so, we travel to the most incredible places, we feel like we never felt before, and if somebody asks us to describe these states of beings, to put them into words, it will be impossible, because it is beyond that, it is beyond words.
Happiness is and will always be present within ourselves, and will come to surface the moment we decide to be true to ourselves, the moment we no longer think in tearms of ME, I, MINE, but rather in tearms of US and WE, knowing that we are all one, and that we are all together in this journey called life.
Happiness will not, and can not be found as long as we see ourselves as being separate from everybody else, as being better and more special than everybody else, this is not what happiness is. Real happiness is about sharing, about giving, the best we got to those around us, and when we do so, we will inspire others to do the same, and this is how the whole world will be transformed; this will be the moment we will realize that if we want the world to be a happy place to live, will first have to be happy ourselves, and by doings so, the whole world will be transformed.
Sooner or later, we will all discover this truth, it will all become very clear to us, and we will start to see things as they really are, not as we are
AMERICAN PORPHYRIA FOUNDATION~ if you are looking to still place an order with 100% of all orders going to the APF please let me know. All orders are on their way to those that have purchased things. Things that are available are the 16 gig usb drive, bag's and totes and wristbands in navy, red, purple light blue, scarfs beautiful most all colors, and traveling cups. So please email me with any questions or to reserve items @ firstname.lastname@example.org
FDA opens new line of communication with patients...
"Get Informed. Get Involved. Help FDA Help Patients Have a Bigger Voice. That's the slogan of a new FDA web site. The FDA Patient Network has been designed from the ground up to focus entirely on patients.
The FDA Patient Network web site is an interactive tool for educating patients, patient advocates, and consumers on how their medications - both prescription and over-the-counter -and medical devices move from the realm of idea to the realm of the marketplace. It brings together, in one place, information that is important to patients, making it easier for them to find what they are looking for and to understand the significance of their findings.
This web site will open new channels of communication with the public, such as live chats with senior agency officials. It will help patients and consumers better understand the process for determining whether medical products are safe and effective and encourage them to contribute their ideas and concerns about the development and regulation of these products".
This is your opportunity to let your voice be heard, and to educate yourself.
Whether you’re a vegetarian, foodie, health-conscious mom, busy professional, or anything in between, there is a colorful, delicious salad just for you. If you haven’t found that perfect salad that you just love, you’re in the right place, because we are here to help you with our completely custom, foolproof salad how-to. Just pick what you like, pile on the nutritious ingredients, and enjoy a hearty, healthy, homemade salad…
Get Inspired Now that you are armed with all the elements to create salad perfection, you’ll need a little inspiration, no? Here are some of our favorite salads…
• The Busy Lady – For the woman on-the-go an energy boosting lunch is a must. Power up with super foods like chicken, spinach, avocado, and goat cheese. The super charged ingredients in Recipe Girl’s salad will support you through your hectic schedule.
• For the Kiddos – Get the kids excited about veggies with this Taco Salad Bowl from Cherry on my Sundae. This salad tastes like Mexican night, but with the health benefits of avocado,black beans, grilled chicken, and crunchy chopped veggies. Added perk? Moms and dads seem to enjoy this one, too…
• The Adventurer – Ready to step out of the box? Iowa Girl Eats mixed the unexpected flavors of apples, salmon, beets, cranberries and many more yummy ingredients to create a uniquely delicious and super nutritious lunch.
• The Veggie Lover – Super delicious and packed with protein-filled lentils, this salad from the Kitchen Confidante is hearty enough to keep vegetarians feeling full and satisfied.
The porphyrias are a group of different diseases, each caused by a specific abnormality in the heme production process. Heme is a chemical compound that contains iron and gives blood its red color. The essential functions of heme depend on its ability to bind oxygen. Heme is incorporated into hemoglobin, a protein that enables red blood cells to carry oxygen from the lungs to all parts of the body. Heme also plays a role in the liver where it assists in breaking down chemicals (including some drugs and hormones) so that they are easily removed from the body.
Heme is produced in the bone marrow and liver through a complex process controlled by eight different enzymes. As this production process of heme progresses, several different intermediate compounds (heme precursors) are created and modified. If one of the essential enzymes in heme production is deficient, certain precursors may accumulate in tissues (especially in the bone marrow or liver), appear in excess in the blood, and get excreted in the urine or stool. The specific precursors that accumulate depend on which enzyme is deficient. Porphyria results in a deficiency or inactivity of a specific enzyme in the heme production process, with resulting accumulation of heme precursors.
The signs and symptoms of porphyria vary among types. Some types of porphyria (called cutaneous porphyria) cause the skin to become overly sensitive to sunlight. Areas of the skin exposed to the sun develop redness, blistering and often scarring.
The symptoms of other types of porphyria (called acute porphyrias) affect the nervous system. These symptoms include chest an abdominal pain, emotional and mental disorders, seizures and muscle weakness. These symptoms often appear quickly and last from days to weeks. Some porphyrias have a combination of acute symptoms and symptoms that affect the skin.
Environmental factors can trigger the signs and symptoms of porphyria. These include:
Porphyria is diagnosed through blood, urine, and stool tests, especially at or near the time of symptoms. Diagnosis may be difficult because the range of symptoms is common to many disorders and interpretation of the tests may be complex. A large number of tests are available, however, but results among laboratories are not always reliable.
Each form of porphyria is treated differently. Treatment may involve treating with heme, giving medicines to relieve the symptoms, or drawing blood. People who have severe attacks may need to be hospitalized.
Most of the porphyrias are inherited conditions. The genes for all the enzymes in the heme pathway have been identified. Some forms of porphyria result from inheriting one altered gene from one parent (autosomal dominant). Other forms result from inheriting two altered genes, one from each parent (autosomal recessive). Each type of porphyria carries a different risk that individuals in an affected family will have the disease or transmit it to their children.
Porphyria cutanea tarda (PCT) is a type of porphyria that is most often not inherited. Eighty percent of individuals with PCT have an acquired disease that becomes active when factors such as iron, alcohol, hepatitis C virus (HCV), HIV, estrogens (such as those used in oral contraceptives and prostate cancer treatment), and possibly smoking, combine to cause an enzyme deficiency in the liver. Hemochromatosis, an iron overload disorder, can also predispose individuals to PCT. Twenty percent of individuals with PCT have an inherited form of the disease. Many individuals with the inherited form of PCT never develop symptoms.
If you or someone you know has porphyria, we recommend that you contact a genetics clinic to discuss this information with a genetics professional. To find a genetics clinic near you, contact your primary doctor for a referral.
Porphyria can be triggered by drugs (barbiturates, tranquilizers, birth control pills, sedatives), chemicals, fasting, smoking, drinking alcohol, infections, emotional and physical stress, menstrual hormones, and exposure to the sun. Attacks of porphyria can develop over hours or days and last for days or weeks.
The porphyrias have several different classification systems. The most accurate classification is by the specific enzyme deficiency. Another classification system distinguishes porphyrias that cause neurologic symptoms (acute porphyrias) from those that cause photosensitivity (cutaneous porphyrias). A third classification system is based on whether the excess precursors originate primarily in the liver (hepatic porphyrias) or primarily in the bone marrow (erythropoietic porphyrias). Some porphyrias are classified as more than one of these categories.
The cutaneous porphyrias affect the skin. People with cutaneous porphyria develop blisters, itching, and swelling of their skin when it is exposed to sunlight. The cutaneous porphyrias include the following types:
Also called congenital porphyria. This is a rare disorder that mainly affects the skin. It results from low levels of the enzyme responsible for the fourth step in heme production. It is inherited in an autosomal recessive pattern.
An uncommon disorder that mainly affects the skin. It results from reduced levels of the enzyme responsible for the eighth and final step in heme production. The inheritance of this condition is not fully understood. Most cases are probably inherited in an autosomal dominant pattern, however, it shows autosomal recessive inheritance in a small number of families.
A rare disorder that can have symptoms of acute porphyria and symptoms that affect the skin. It results from low levels of the enzyme responsible for the sixth step in heme production. It is inherited in an autosomal dominant pattern.
The most common type of porphyria. It occurs in an estimated 1 in 25,000 people, including both inherited and sporadic (noninherited) cases. An estimated 80 percent of porphyria cutanea tarda cases are sporadic. It results from low levels of the enzyme responsible for the fifth step in heme production. When this condition is inherited, it occurs in an autosomal dominant pattern.
A disorder that can have symptoms of acute porphyria and symptoms that affect the skin. It results from low levels of the enzyme responsible for the seventh step in heme production. It is inherited in an autosomal dominant pattern.
The acute porphyrias affect the nervous system. Symptoms of acute porphyria include pain in the chest, abdomen, limbs, or back; muscle numbness, tingling, paralysis, or cramping; vomiting; constipation; and personality changes or mental disorders. These symptoms appear intermittently. The acute porphyrias include the following types:
This is probably the most common porphyria with acute (severe but usually not long-lasting) symptoms. It results from low levels of the enzyme responsible for the third step in heme production. It is inherited in an autosomal dominant pattern.