Wednesday, July 30, 2014

Volunteers Needed for AASLD and ASH Meetings

Volunteers Needed for AASLD and ASH Meetings
American Association for the Study of Liver Diseases (AASLD) will host their annual meeting in Boston Nov 7-11, 2014at the Hynes Convention Center. More than 9,500 hepatologists and hepatology health professionals from across the nation and around the world will gather to discuss the latest in the field. The APF will have an exhibit booth to distribute porphyria medical information and promote porphyria awareness.  We need volunteers to help man the booth.  You will be meeting with the physician attendees, handing out educational literature, and sharing your porphyria experience with the doctors who come to the APF exhibit booth. If you live in the Boston area and are willing to assist us by manning the exhibit booth, please contact the APF.
The American Society of Hematology (ASH) will host its 56th Annual Meeting in San Francisco, CA, December 6-9, 2014 at the Moscone Convention Center.  More than 20,000 hematologist and health professionals in the field will be in attendance.  These conventions provide an excellent opportunity for the APF to educate physicians who will be treating porphyria patients. The APF will also have an exhibit booth at the ASH convention, as well as the AASLD.  If you live in the San Francisco area and are willing to assist us by manning the exhibit booth, please contact the APF: 713.857.0995 or email us porphyrus@porphyriafoundation.com.


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

Monday, July 28, 2014

Welcome Everyone!

Welcome all new ones. If you have any questions on need any assistance with materials and brochures please feel free to contact the APF for all your needs.
 1-866-APF-3635. 

Also, there are many opportunities to join research projects.

We also have a great blog to learn about the history, did you know and tips about each type of Porphyria.

 It's free so sign up today.http://porphyriafoundation.blogspot.com/

Come And Check Us Out!

Friday, July 25, 2014

Natural History Study goes International!

We are looking for patients to engage in a Natural History Study in collaboration with investigators from the American Porphyria Consortium to learn more about the symptoms and the treatment of patients with Acute Porphyrias.

You may qualify to participate in this study if you have the diagnosis of acute intermittent porphyria, variegate porphyria or hereditary coproporhyria and have experienced at least 3 acute attacks or have used panhematin, normosang, or other medicine to prevent attacks in the last 12 months. This study will not require you to take any new medication or treatments.

Please, contact the APF, or pm me here if you live close OR are willing do drive (the driving expenses will be reimbursed to you) to the following cities: Birmingham, AL; San Francisco, CA; New York, NY; Charlotte, NC; Galveston, TX; Salt Lake City, UT, a
nd in the following countries in Europe: UK, France,                                                      Switzerland, Germany, Italy, Sweden, Norway and Finland. ***


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

International Opportunity from the French Porphyria Association


International Opportunity from the French Porphyria Association



Our friends from the French Porphyria Association have a wonderful international opportunity. They are asking all EPP patients and their families, if you would like to participate in international exchange. A young EPP patient (20 years old) would like to come to the US in September. If you would like to be a host family, please let us know. The hosting involves only accommodation, all travel/food expenses are paid by a French party. In turn, a French family will welcome and accommodate you as well. Contact the APF, know if you are interested 713.266.9617.





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

 








Monday, July 21, 2014

The Longitudinal Study and the CME Course


                  The Longitudinal Study and the CME Course

The APF is sending out letters to all physicians from our data base about the Longitudinal Study of the Porphyrias. We also provide information about the CME (Continuing Medical Education) course (a free, internet-based activity). The title of the course reads: "The Management of Acute Porphyrias: Improving Diagnosis, Treatment, and Standards of Care".

Target Audience
This activity is intended for gastroenterologists, hematologists, emergency department physicians and nurses, hematologists, oncologists, obstetricians/gynecologists, primary care providers, dermatologists, endocrinologists, nurses, pharmacists, and other healthcare professionals who manage patients with acute porphyrias.

Goal Statement
The goal of this activity is to explore the challenges involved across specialties in identifying and managing patients with acute porphyrias.
Learning Objectives
Upon competition of this activity, participants will be able to:
  1. Detail the history, signs, and symptoms that point toward an appropriate diagnosis of acute porphyria
  2. Discuss the optimal methods for making the diagnosis of acute porphyria
  3. Evaluate acute and long-term porphyria treatment options

Authors & Affiliations:
Herbert L. Bonkovsky, MD, Owen M. Lander, MD, Gale W. Groseclose, RN, BSN.
If you would like us to send your doctor information about the current studies and a CME card, please let us know 713.266.9617.




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

Friday, July 18, 2014

APF History

APF History

The American Porphyria Foundation was formed in 1982 when Executive Director Desiree Lyon joined with another individual whose family was affected by porphyria to form a patient-run, expert-advised organization that would educate doctors and the general public about porphyria, raise funds for research, and advocate for better policy and patient care.
At the time, Desiree was a very sick young woman undergoing treatment as an inpatient at the National Institutes of Health in Bethesda, MD.  The physician-scientists treating her had explained that Acute Intermittent Porphyria was causing the horrible pain she felt, along with seizures and other neurological disturbances, immense swelling and rigidity of her abdomen, and other alarming and life-threatening symptoms.
As so many of us do when we are first diagnosed, Desiree sought more information about her condition, written in language she or any other person without a medical degree could understand.  She got permission from her doctors to walk herself and her IV pole down to the hospital’s medical library every day and began reading everything she could find on porphyria.  And from that simple beginning, this nearly-30 year old organization was born.
One of the APF’s earliest efforts was joining with other rare disease advocates to form the National Organization for Rare Disorders (NORD), and testifying before Congress in the same year in support of the Orphan Drug Act (1983). Panhematin®, which remains the only specific treatment for acute porphyria available in the United States, was the first drug to be approved under the ODA.
Since then, we have published materials on all the porphyrias for a patient audience; developed a comprehensive website and the educational DVD Porphyria Live; educated doctors at medical conferences, and through mailings and in-hospital seminars; helped thousands of patients in the U.S. and internationally find their way to diagnosis and treatment; served as liaison between the patient/primary care and research communities; and continually sought funds to improve research and training, diagnosis and care for the porphyrias.
"Remember.....Research is the key to your cure!"

Wednesday, July 16, 2014

Join the Registry

Join the Registry


Join the Porphyria Registry and LET THE GOVERNMENT KNOW THEY MUST PROVIDE FUNDING FOR PORPHYRIA RESEARCH!!!!!
To join the Contact Registry, click here to open a page that lists all of the rare disease consortia. Scroll down the page until you come to the Porphyria Consortium and click on your type of porphyria. You will then be asked to complete a simple form including information about the date of your diagnosis, if you know it. If you have copies of your initial diagnostic lab results, you may want to have them handy when you go to the registry website. 
Porphyria experts have created this National Porphyria Registry—a type of partnership between doctors and patients— as a way for those with porphyria to share information about their health and treatment so physicians can learn from their experience and use that knowledge to enhance diagnosis, treatment and eventually find a cure for porphyria.
It is the best means to prove that there are enough porphyria patients who want improved health care. If we don't speak up, we will be left behind when research funding is given. We DO NOT HAVE ENOUGH PEOPLE ON THE REGISTRY. Please join the registry.
Joining the Porphyria Registry is anonymous and free of charge. All data will be stored in a secure, computerized database. No personal identifying information (such as your name, address, telephone number) will be given to anyone without your expressed approval.
_________________________________________________
The registry is not linked to APF membership, but we hope you will join the American Porphyria Foundation too! So please consider joining the Contact Registry, and thank you for continuing to be a member of the APF.
Doctors who study rare diseases see a relatively small number of sufferers over many years of practice. This Registry will give a big boost to medical and scientific understanding of porphyria by bringing together information from patients all over the country.
If you need help enrolling in the registry contact our office toll free at 1-866-APF-3635.

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

Monday, July 14, 2014

Healthwell Foundation Offers Financial Assistance To Acute Porphyria Patients

Healthwell Foundation Offers Financial Assistance To Acute Porphyria Patients



Krista Zoset, President Healthwell Foundation
Krista Zodet, President
HealthWell Foundation

We are pleased to join forces with the American Porphyria Foundation to increase porphyria awareness and spread the word about resources available through the HealthWell Foundation for people living with porphyria. Since 2006, the HealthWell Foundation has provided copayment and premium assistance to eligible acute porphyria patients. Through our fully-automated grants process, patients are able to determine eligibility and apply online.  Patients also have the option to contact our hotline at 800-675-8416 to speak directly with a HealthWell representative. The HealthWell Foundation is an independent, 501(c)(3) charitable organization that provides financial assistance to insured individuals who struggle with high out-of-pocket medical expenses. You can learn more about the HealthWell Foundation by visiting us at www.HealthWellFoundation.org.

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

Thursday, July 10, 2014

The Longitudinal Study and the CME Course


                  The Longitudinal Study and the CME Course

The APF is sending out letters to all physicians from our data base about the Longitudinal Study of the Porphyrias. We also provide information about the CME (Continuing Medical Education) course (a free, internet-based activity). The title of the course reads: "The Management of Acute Porphyrias: Improving Diagnosis, Treatment, and Standards of Care".

Target Audience
This activity is intended for gastroenterologists, hematologists, emergency department physicians and nurses, hematologists, oncologists, obstetricians/gynecologists, primary care providers, dermatologists, endocrinologists, nurses, pharmacists, and other healthcare professionals who manage patients with acute porphyrias.

Goal Statement
The goal of this activity is to explore the challenges involved across specialties in identifying and managing patients with acute porphyrias.
Learning Objectives
Upon competition of this activity, participants will be able to:
  1. Detail the history, signs, and symptoms that point toward an appropriate diagnosis of acute porphyria
  2. Discuss the optimal methods for making the diagnosis of acute porphyria
  3. Evaluate acute and long-term porphyria treatment options

Authors & Affiliations:
Herbert L. Bonkovsky, MD, Owen M. Lander, MD, Gale W. Groseclose, RN, BSN.
If you would like us to send your doctor information about the current studies and a CME card, please let us know 713.266.9617.




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

Tuesday, July 8, 2014

History of Porphyria

History of Porphyria


A Little Bit of History
      1841 The term ‘porphyrin comes from the Greek word, porphyus, meaning reddish-purple. It was first thought that the reddish color of blood was from iron. One early scientist performed an experiment to prove that this was not the case. He washed dried blood with concentrated sulfuric acid to free the iron. He then treated it with alcohol and the resulting iron free residue took on a reddish purple color though it contained no iron compound
     1844 - Gerardus Johannes Mulder determined the chemical composition of this purplish, iron free substance, which he named "hematin,"   He also illustrated that hematin took up oxygen.
     1867 - J.L.W. Thudichum described the beautiful spectrum and fluorescence of these red porphyrins after he published his first book on the analysis of urine.
     1871 - Felix Hoppe-Seyler crystallized hematin and described it’s spectrum.  He then demonstrated that the crystalline form differed from one animal species to another. Using his own newly constructed gas pump, he found that oxygen formed a loose, dissociable compound with hemoglobin, which he called "oxyhemoglobin."  He renamed the iron free hematin ‘hematoPorphyrin’.
     1874 - Dr. J.H. Schultz described a case of a 33-year-old male weaver who suffered from skin sensitivity, an enlarged spleen and reddish urine since he was an infant. He called the condition pempigus leprosus.  His was most likely the first description of protoporphyria. Dr. Schultz was later credited with giving the disease it’s name.
     1880- MacMunn described a patient’s dark reddish urine of a patient with symptoms of an attack of acute Porphyria.
     1888  Shortly after, sulphonal was introduced as a hypnotic drug, Joseph Stokvis had a patient who, after taking the drug, excreated the tell-tale dark reddish urine typical of porphyria.  The elderly woman then became paralyzed and died. Stokvis deducted that the pigment in her urine was the hematoporphyrin.
     1889 - B.J.Stokvis published the first case and clinical description of acute hepatic porphyria.
     1890 - George Harley (1829-96) studied a 27-year-old who also excreted reddish urine and an "unusual nerve disturbance after taking sulphonal. 
     1898 - T.McCall Anderson described two brothers had eruptions with burning and pruitus on the sun exposed areas of their skin so severe that they lost part of their ears and nose.  They exhibited dark urine. 
     1898 - Alfred F. Harris demonstrated that the urine of both brothers contained  the hematoporphyrin group.
     1906 - Dr. Max Dobrschansky described the first case of acute porphyria after a patient had a barbiturate.
     1911 - H. Gunther classified the diseases of porphyria, including congenital erythropoietic porphyria (CEP), which he called congenital hepatoporphyria, the rarest porphyria.
      1913 - Dr. Friedrich Meyer Betz injected himself with hematoporphyrins to determine their photodynamic impact . He subjected himself to the sun and became so photosensitized that the extremely painful photosensitive effect lasted several months. The photos of Dr. Betz taken hours after he injected himself illustrated his badly swollen face.  He was unrecognizable until the swelling decreased.  The-experiment is used today in dermatology text books.  View these photos on the APF website.
     1915 - Hans Fischer studied one of H. Gunther’s patients, Mr. Petry, who had the rare type of Porphyria, CEP. Using data from Mr. Petry’s case, Fischer provided significant insight into the chemistry of porphyrins. He also found that uroporphyrins and coproporphyrins were different from hematoporphyrins and subsequently suggested that the hemato prefix be dropped.
     1923 - A. E. Garrod credits H. Gunther with first recognizing that hematoporphyria was, in fact, an inherited metabolic problem in his manuscript, Inborn Errors of Metabolism. This is the first time the term "inborn errors" of metabolism had been ever used for a group of inherited metabolic disorders and the year CEP was first identified.
     1937 Dr. Jan G. Waldenstrom suggested that the name of the diseases of porphyrin metablolism be porphyrias rather than Hematoporphyrias. Using Paul Ehrlich’s  aldehyde reagent, Waldenstorm identified 103 patients with acute porphyria by testing their urine and noting the red color.  He discovered that asymptomatic family members of these patients also had the same reaction if they ingested even small amounts of barbiturates and sulphonal.
     1949 -Dr. Cecil J. Watson identified cases in which there were excessive amounts of coproporphyrins in the stool and urine and suggested that this was caused by an inborn error of metabolism. He continued his research in the United States, where he and Dr. Samuel Schwartz discovered a fundamental test, , the "Watson-Schwartz tests".
     1954 - R. Schmid, Samuel Schwartz and Cecil. J. Watson classified the porphyrias according to the porphyrin content in the bone marrow and liver.
     1955 - A. Goldberg and H. Berger showed that individuals with an excess of coproporphyrin had another inherited form of porphyria that they called hereditary coproporphyria.  HCP is an autosomal dominant form of hepatic porphyria that is very similar to acute intermittent porphyria, except that some patients develop skin photosensitivity, too.
     1960's – Earnest Porphyria research in Europe and US.
     1961 - Heinrich Gustav Magnus described erythropoietic protoporphyria (EPP) as a genetic disorder arising from impaired activity of ferrochelatase, which is what adds iron to protoporphyrin to form heme.
     1970-2011 - Drs. Anderson, Desnick, Bissell, Bloomer, Bonkovsky,, Bottomley, Dailey, Galbraith, ,Kappas, Kreimer-Birnbaum, Kushner, Lamon, Levere, Levine, Mathews-Roth, McDonaugh, Nichols, Peters, Sinclair, Pimstone, Pierach, Poh-Fitzpatrick, Sassa, Shedlofsky, Schmid, Sassa, Tishler, Tschudy, Watson,,  Phillips and many others too numerous to name have furthered porphyria research and have bettered the health care of all of us with Porphyria. We owe all these people a great debt and a great measure of thanks.
     2008-2011- The APF Protect the Future program to train the next generation of experts was initiated.  We are grateful for the newest experts;  Drs. Manisha Balwani, Lawrence Lui, Gagen Sood, Manish Thapar, Bradley Freilich, Charles Lourenco, Brenden McGuire, Bruce Wang, Majid Rizk, Guiherme Perini, Jennifer Guy, Jeffery Wickliffe,, Aswani Singal, Sajid Mittal,Charles Parker.

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

Thursday, July 3, 2014

Read about our new PTF DR Siddesh Besur MD, FACP



Siddesh Besur, MD, FACP The APF welcomes a new Protect the Future (PTF) trainee, Dr. Siddesh Besur. He is doing his fellowship in porphyria during July 2014-July 2015. Dr. Besur will be available for patients in the Charlotte, NC area. He completed the Transplant Hepatology Fellowship in Carolinas Medical Center/University of North Carolina in 2013-2014. Dr. Besur also was a Clinical Fellow Internal Medicine at Royal Glamorgan Hospital in United Kingdom during 2003-2004, and a Fellow in Internal Medicine in Senior House officer at University Hospital of Wales in United Kingdom during 2000-2003. A few of his Awards and Honors include:

• Master in-patient teaching physician -outstanding teacher award in 2012, 2013

• Faculty Investigator award  -Michigan State University-FAME in 2013

• Elected fellow of American College of Physicians (ACP) in 2011       

• American Society of Transplantation travel grant in 2013

• Presidential poster award -American College of Gastroenterology in 2012

• First prize - Research presentations at Southern Hospital Medicine in 2011

• First prize -Health policy and medical education presentations at Michigan State Medical Society (MSMS) in 2011

• First prize-Quality Improvement (QI) presentation at American College of Physicians (Michigan chapter Associates day) in 2011.

We are glad to have Dr. Besur as one of our PTF trainees. The PTF program was initiated to train young doctors as the next generation of porphyria experts. Each trainee studies with one of the porphyria experts for a lengthy period of time, as well as attends educational meetings. Your donations support this important program. Please consider your participation with the donations marked as "For PTF". Thank you!



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

Tuesday, July 1, 2014

About Porphyria!

About Porphyria!



Porphyria touches people of all ages, races, and incomes.  There may be one who suffers from Porphyria in your state, or even closer.  One thing I really appreciated was hosting an IN TOUCH meeting from the APF, they did most of the leg work for us.  I teamed up with another member who I had never met that had AIP, we discussed a central location, date time and place.  (Hint, if it's a smaller gathering check out at a hospital  setting- meeting room, if you explain what you want to discuss you have extras show up such as Nurses and Doctors) this is really a great way to explore the field of rare disease.  The American Porphyria Foundation sent out invitations to all those in the surrounding area and we had over 30+ people show up.  We supplied bottled water, tea, coffee and some fruit and a small cake and cookies nothing fancy.  I was able to spend time learning about others types of Porphyria and how it has affected their life.  Some who even ask me to share my story and I did. Its so important to learn for self, a loved one and also educate by the printed pages that the APF sent out to us in advance, brochures, letters, pictures of the staff and Doctors and this was at no cost.  So that is why I became a member of the APF they have helped me personally so many times.  So back to my story, There are no rules when talking with a person who has porphyria because each person and situation is unique.  So I really encourage each one to think about not only becoming a member of the APF but also hosting and getting in touch, in person with a fellow friend that shares this same disease.  THE APF SUPPORTS US!  Lets show our support back so please give them a call if you would like to host or come to an IN TOUCH meeting or become AN APF member today! 1-866-APF-3635

Next week learn more on the types of Porphyria!
"Remember....Research is the key to your cure!"

Important EPP Survey URGENT ASAP!!!

Important EPP Survey Dear EPP Community, As you know, the diagnosis of EPP is often delayed for many years. Researchers at the Icah...