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Showing posts from March, 2013

Allow Yourself To Take Care Of You

Allow Yourself To Take Care Of YouPain Camp:  Tools to Manage Your Pain So You Can Move On As soon as I woke up today, I knew it was going to be a day where I decided to take a break from life’s duties.  Around noon, I started to feel a little guilty and my shame button was triggered.  “If I sit down and rest, I’m being lazy” said my negative self-talk. I took a look at my activities over the past week, packed with work, appointments and other commitments.  As I neared the end of the week, I could feel the life being sucked out of me.  I was struggling to keep my symptoms tame. Sometimes I feel like I just don’t have any fight left in me, but I still have a hard time resting.  I think this is partly due to my personality (I’m much more like the hare than the tortoise), and partly due to our over-achiever syndrome culture here in America.  The How to Cope with Pain article Making Positive Psychological Changes talks about acceptance and how it can mean no longer struggling with the …

Aubrey N Brooks and CEP

    This website is for Aubrey Nichole Brooks

Before Transplant!

Now! Aubrey was born on January 17th, 2008 to Nichole Baughman of Powhatan Point, Ohio. She was a healthy 8lbs. 13oz baby girl. Several weeks after she was born we noticed her diapers were tinted reddish-orange from her urine. After visiting the pediatrician and completing a urinalysis we were told she was fine. Throughout her first year of life she continued to have reddish-orange urine and the doctors assured us that everything was okay. She was admitted for pneumonia in March 2009 and the nurses showed a concern about her urine. They again did a urinalysis which came back negative. However, she was found to be anemic during this stay in the hospital.  From March to June she began to show signs of blistering and scabbing on her face. This then spread to her hands and she began to lose her fingernails. We were misdiagnosed and were treated for impetigo for almost three months. In early June of 2009, we were seen by Dr. Rob…

GREAT DREAM. Ten Keys to Happier Living

GREAT DREAM. Ten Keys to Happier Living

Feeling pain!

Pain provides the body with a protective mechanism, alerting it to potential or actual damage to the body’s tissues. In the example of a bee sting, the pain receptors in the skin detect tissue damage from the bee sting. Then, the peripheral nerves send a pain signal to the brain. The brain analyzes the pain signal. In turn, the brain delivers a message back to the muscles of the arm to react.

What is pain?

Pain is a feeling triggered in the nervous system. Pain may be sharp or dull. It may come and go, or it may be constant. You may feel pain in one area of your body, such as your backabdomen or chest or you may feel pain all over, such as when your muscles ache from the flu. Pain can be helpful in diagnosing a problem. Without pain, you might seriously hurt yourself without knowing it, or you might not realize you have a medical problem that needs treatment. Once you take care of the problem, pain usually goes away. However, sometimes pain goes on for weeks, months or even years. This is calledchronic pain. Sometimes chronic pain is due to an ongoing cause, such as cancer or arthritis. Sometimes the cause is unknown. Fortunately, there are many ways to treat pain. Treatment varies depending on the cause of pain. Pain relieversacupuncture and sometimes surgery are helpful.  I hope your all having a pain free day.

Rafael de la Torre and PCT

Rafael de la Torre Type of Porphyria:  Porphyria Cutanea Tarda (PCT)
Porphyria friends in Argentina have a center for diagnosis and treatment headed by Dr. Alcira Batlle. For more information , please see:

Our member, Rafael de la Torre from Buenos Aires shares his experience with PCT.

 To contact him, email:
In 2001 I went to consult the dermatologist about some blisters that appeared in one of my fingers. After asking me about others symptoms, he asked me to have an analysis performed by Dr. Alcira Batlle at the hospital in Buenos Aires. The result was Porphiria Cutanea Tarda.
The treatment was S-Adenosyl-L-Methione, 800 mg/ day, during 20 days, and simultaneously I received 100 mg Chloroquine, twice a week, until the levels of urinary porphyrins reached the controls. And I also had one Phlebotony of 500 ml of blood. The concentration of urinary porphyrins and plasma porphyrins was measured at the beginning of the treatment a…

Peripheral Neuropathy~ Do you suffer?

I know that many that suffer from Porphyria and other diseases also suffer from Peripheral Neuropathy.  Learning about what it is how it affects us and what can we do to control our pain.  This information has been provided by the Pain Management Clinic at the Mayo Clinic. Definition By Mayo Clinic staff Top of Form Pain Management Advisor Bottom of Form Peripheral neuropathy, a result of nerve damage, often causes numbness and pain in your hands and feet. People typically describe the pain of peripheral neuropathy as tingling or burning, while they may compare the loss of sensation to the feeling of wearing a thin stocking or glove. Peripheral neuropathy can result from problems such as traumatic injuries, infections, metabolic problems and exposure to toxins. One of the most common causes is diabetes. In many cases, peripheral neuropathy symptoms improve with time — especially if the condition is caused by an underlying condition that can be treated. A number of medications often are used t…

Please JOIN: Connecting Patients Globally Its Free

Connecting Rare Disease Patients Globally About RareConnect Living with a rare disease can be an isolating experience. RareConnect was created byEURORDIS (European Rare Disease Organisation) and NORD (National Organization for Rare Disorders) to provide a safe space where individuals and families affected by rare diseases can connect with each other, share vital experiences, and find helpful information and resources. ·Understand Learn what it's like to live with a rare disease or share your own story. Browse patient testimonies, share photos, and contact patient organizations. The “Understand” section of RareConnect promotes awareness and understanding through daily life experiences. ·Meet Start your global conversation here. Connect with others around the world to share support and encouragement. The “Meet” section of RareConnect provides a safe place to meet friends, ask questions, start or join conversations, and interact with others experiencing the same challenges. ·Learn Find quali…



We are excited about all of the activities our members are planning for the soon approaching Porphyria Awareness Week, April 14-20 2013.  APF member, Monica Fleegel, is hosting a very creative campaign to heighten porphyria awareness and raise funds for the APF to train future experts via the Protect the Future program.  The attendees will also be writing letters to the FDA in support of the approval of new treatments for EPP, like SCENESSE.  
Read Monica's account below:
"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 Protoporhyria).  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 we need a treatment so all who suffer from EPP can spend time in the sun. Through a le…

Longitudinal Study Underway The Porphyria Longitudinal Observational Research Project

Longitudinal Study Underway The Porphyria Longitudinal Observational Research Project is underway. The
objective of this protocol is to conduct a five year, multidisciplinary investigation of the natural history, morbidity, and
mortality in people with porphyrias. In addition, the purpose is a long-term follow-up study of a large
group of patients with the various porphyrias, which will provide a better understanding of the natural
history of these disorders, as affected by available therapies, and to aid in developing new forms of
treatment. You have the opportunity to be part of this important project and help advance research by
answering the most important and often perplexing questions about porphyria. As part of the research,
the patient volunteers will be followed longitudinally for long term survival, development of disease complications
and outcomes of commonly used treatments, as well as more advanced treatments, such as liver or bone
marrow transplantation. Researchers will seek to …

Safe & Unsafe Drugs

Safe/Unsafe Drugs Dr. Peter V. Tishler, who is a porphyria expert at Harvard/ Brigham and Women’s
Hospital in Boston, has been instrumental in overseeing and updating the APF Safe/Unsafe Drug
List for acute porphyria. Dr. Tishler is kindly updating the list again and wants your input. Therefore, if
you have been negatively affected by a specific drug, please contact the APF. We will then put you directly
in contact with Dr. Tishler to discuss your experience. When you report a drug, please have on
hand, the name of the drug, the dose, and a synopsis of what happened to you when you took the
drug. As you know, the Safe/Unsafe Drug List is extremely important for people with acute porphyrias,
so your input is very important. It is often a lifesaving tool for the patients and their doctors.
Dr. Tishler is a clinician/researcher in human genetics, including polycystic kidney disease, chronic obstructive
pulmonary disease, Fabry’s disease, and the porphyrias. We are fortunate to have porphyria spec…

Porphyria Research is the Key to Your Cure

Porphyria Research is the Key to Your Cure. Unfortunately, the numbers of patient volunteers
is very small. More volunteers are needed. Please contact the APF if you are interested in
participating in one or more of the research projects below directed by these experts: Karl Anderson,
University of Texas Medical Branch, Galveston, TX; Dr. Robert Desnick, Mount Sinai School of Medicine,
NYC, NY; Dr. Joseph Bloomer, University of Alabama, Birmingham, AL; Dr. Montgomery Bissell;
University of California, San Francisco, CA; Dr. Herbert Bonkovsky, Carolinas Healthcare Systems, Charlotte, NC; and
John Phillips, Ph.D. University of Utah, Salt Lake City, UT.
• Mitoferrin-1 Expression in Patients with Erythropoietic Protoporphyria (EPP)
• A double-blind, randomized, placebo-controlled, parallel group trial on the efficacy and safety of Panhematin in
the treatment of acute attacks of porphyria
• Clinical Diagnosis of Hereditary Coproporphyria (HCP)
• Quantification of the Effects of Isoniazid …

Spring Cleaning Naturally 101

· · ·
Clean Without Chemicals Many people are conditioned to believe a house is not clean unless it smells of chemicals. In fact, the opposite is true. You can make your house sparkle with just a few simple supplies, many of which are already in your cupboards. Mild Is BestMild dishwashing liquid is excellent for removing spills that water won't budge. Make a simple all-purpose cleaner by mixing 2 cups water with 2 tablespoons dishwashing liquid in a spray bottle. Use it on countertops and other hard surfaces. Mild Is BestMild dishwashing liquid is excellent for removing spills that water won't budge. Make a simple all-purpose cleaner by mixing 2 cups water with 2 tablespoons dishwashing liquid in a spray bottle. Use it on countertops and other hard surfaces.
Natural CleanersDistilled white vinegar and lemon juice are both excellent for cleaning, deodorizing, and mild bleaching. They are acidic and can eliminate soap scum. Make a window- and mirror-cleaner by mixing equal parts vineg…

EPP & Rob Saupe

Robert Saupè Type of Porphyria:  Erythropoietic Protoporphyria (EPP) When Robert was a baby, his mom went to hang up clothes outside and put him on the grass so she could watch him. After a short time, Robert started screaming and crying. For years, Robert was tested for various allergies, including grass pollen, soap and various foods. When Robert was nine years old, his mom took him to see a doctor who had just completed an internship under Dr. James Kushner, an expert in porphyrias. The doctor looked at Robert’s hands and face, suspected that he had porphyria and told him to make an appointment with Dr. Kushner.
Robert remembers going into the lab where Dr. Kushner did his testing. Dr. Kushner left the room, and when he came back he said, “Bobby, you have porphyria.” Dr. Kushner has called Robert “Bobby” ever since that day, and is the only person who calls him that. The nickname made Robert feel special. Dr. Kushner then kindly put a band-aid on Robert and wrote “slugger” on it, s…

Attention ALL EPP Patients, Family & Friends

EPP friends and family members please get your pen and paper out and write a letter to the FDA.  The reason --- We need to assure them that people with EPP are in dire need of a treatment.
Many health professionals and health departments have the opinion that a life style change is all that is needed for people to handle EPP.  In other words, some think that all you need to do is stay out of the sun, and you will be fine.  People with EPP and their family members need to enlighten them that this is not true by presenting facts about your lives and the lives of your loved ones.  We especially need to get this message across to FDA reviewers who will be assessing a new treatment, Afamelanotide / SCENESSE for approval.
Please take a few minutes of your time to write a letter to the FDA describing your experience with EPP, how it has negatively impacted your life and your family and how much you need a treatment for the disease.  It would be helpful if those of you who were in the Phase II …

Finding a Doctor

Finding a Doctor The American Porphyria Foundation promotes comprehensive care necessary for treating individuals with Porphyria.  This section of our website offers suggestions for finding a local doctor who can manage your Porphyria, options for having your doctor consult a Porphyria specialist, and information on arranging a visit to a Porphyria clinic.
Because Porphyria is so rare, few physicians have experience treating patients with the disease.  Most patients are in fact treated But the APF can help by putting your doctor's office in touch with a Porphyria specialist who can offer guidance on your care.
For those who need a diagnosis, you may be able to obtain a consultation at Porphyria clinic. Call the APF to reach a porphyria expert at a porphyria center.  The APF office will also guide you to doctors who are not experts but are knowledgeable about porphyria. You may be asked to send your blood, urine, and stool samples for evaluation in advance of a clinic appointment.…

Get Involved with the APF!

Get Involved Become a member of the American Porphyria Foundation today, and join us in our work for your good health! When youjoin the APF, you become an integral part of an organization that empowers patients and helps them on the road to accurate diagnosis, proper care, and some day a cure. Adding your voice to ours makes us all stronger as we address our needs to health care providers, local, state and federal agencies and Congress. Members of the American Porphyria Foundation receive: Ourquarterly newsletter— news about porphyria research and clinical studies, scientific meetings and member get-togethers, and stories about the doctors working in the porphyria field and about members like you;Access to theAPF In Touch network— the ability to connect with others who share your diagnosis;Free participation in telephone conference calls with top researchers in the porphyria field;Knowledge—that you are an important part of keeping reliable medical information about porphyria available t…