Tuesday, August 27, 2013

NEW shipment of APF T-shirts are in get yours today!

The new shipment of APF T-shirts are here!


Our hope for the T-shirts is that you all will buy and wear them to help promote and raise questions about Porphyria and to raise funds for the Dr. Packets, pain Management docs, among many other publications we make available at no cost.
Amy Chapman is heading up the T-shirt project. There are also some copies of Porphyria Live for sale. For information on how to order the T-Shirts and/or the Porphyria Live Video see below.
You can order a T-shirt and/or Porphyria Live DVD by sending an email order toporphyriaorders@gmail.com
I must have name, complete address, and phone number.  Also include the Quantity of T-shirts and the size for each one. And include the quanity of the Porphyria Live Video.
To accept payment: One of two options I can accept Paypal VISA/MC only I must have full name on the card, account#, exp. date, 3 digit code on back of card CVV- 
I will accept money orders and personal checks.  You must have name/address/phone # on them.  Your information will be kept confidential and never on file, and will be destroyed promptly after each transaction.
They can be mailed to me:
Amy Chapman
10475 Gandy BLVD N. Unit 3417
St. Petersburg FL 33702.  

*The APF will not take orders or calls about T-shirts*
Once I receive the order I will ship out your product.

All products will be shipped out Priority mail with tracking.  Each person also will receive a receipt with T-shirts.
T-shirts come in the following sizes S, M, L XL, 2xl, 3xl they are 100% cotton, heavy not thin, and very durable.  No other sizes.  
The price per T-shirts is $19.00/shirt. This covers the shirt, shipping and tracking, and priority mail.  International orders: I will have to consult first with the post office for shipping rates.
The price of the Porphyria Live DVD is $10.00 each. Shipping is included in the price.

100% of all funds received will go back to the APF


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


Monday, August 26, 2013

8-2-13 EPP meeting and Afamelanotide/SCENESSE



August 2, 2013 was a memorable day for the APF members, who met at the FDA to explain Erythropoietic Protoporphyria (EPP) and ask that the FDA approve Afamelanotide/SCENESSE for EPP. Most of the attendees had participated in either the Phase II or Phase III clinical trials and were eager to elaborate on their positive experience on the drug.  We sincerely thank Florence Rollwagen, Diana Ijames, Mike Kenworthy, Steve Ferry, Pierre Mouledoux, Mike Ferry, and Andrew Turell, who spoke eloquently about EPP and its effect on their lives.  Each person presented unique aspects of dealing with EPP, as well as their experience with the treatment.  It was poignant to hear how a daily life of pain, isolation and anxiety was changed when they receivrd the implant.  Johnathan Turell, and Kristen Wheeden spoke about being parents of a loved one with EPP and shared the family dynamics that occur with the disease.

We also thank Desiree Lyon Howe, who arranged the meeting with the FDA and gave an overview of the APF efforts for the Phase II and Phase III clinical trials, as well as discussed the Porphyria Research Consortium of porphyria experts and their research on Afamelanotide. Our appreciation goes to the co-chairs of the Porphyria Research ConsoritumDrs Robert Desnick and Karl Anderson, who explained the disease and spoke on their research on Afamelanotide and their views on the beneficial effect it had on the research volunteers.  

Each of the presentations to the FDA representatives was outstanding. We hope they will assist the FDA in understanding the importance of approving a treatment for EPP, specifically approval of Afamelanotide as soon as possible.

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

Friday, August 23, 2013

Diet Information for All Porphyrias

Diet Information for All Porphyrias


Nutritional Advice for Persons with Porphyria

Herbert L. Bonkovsky, MD
Jessy Philip, RD, PhD
Carolinas Health Care System, Charlotte, NC
Department of Medicine, Univ of CT Health Center and Univ of NC School of Medicine

Overview:  Good nutrition is important for all of us, including those with porphyria.  For the most part, persons with porphyria should follow the sensible and usual dietary advice of the Centers for Disease Control, the US Department of Agriculture, and other responsible and reputable governmental agencies.
Because over-nutrition and obesity are such a great problem in the USA and other western countries, it is important that patients with porphyria do their best to avoid becoming obese or gaining weight beyond their ideal body weights.  The acute porphyrias [acute intermittent porphyria, hereditary coproporphyria, variegate porphyria, and ALAD deficiency porphyria] may be made worse by prolonged fasting or severe ['crash'] dieting, because, in these forms of porphyria, glucose and other carbohydrates help to repress the activity of hepatic ALA synthase 1, the first enzyme of the heme synthetic pathway.  In these forms of porphyria, uncontrolled up-regulation of ALA synthase 1 in the liver is a necessary component of the metabolic abnormalities that may give rise to acute attacks.
General Advice:  There is no special or particular diet required or recommended for persons with porphyria.  Rather, the principles of good and sensible nutrition apply.  These principles call for a varied and balanced diet, particularly with avoidance of over-nutrition.  Consumption of too many calories, in excess of daily needs for calorie and energy consumption, has emerged as one of the greatest public and personal health problems of Americans.  The growing problem of obesity is present in much of the world, not just in North America.
          Figure 1 shows current general dietary recommendations for Americans, as developed by the Department of Health and Human Services and the Centers for Disease Control. http://health.gov/dietaryguidelines/2010.asp  Such advice should be followed by persons with porphyria, as well as those without.  The keys are adherence to a varied and balanced diet with balanced, moderate consumption of carbohydrates, protein, and fats.  To reduce the risks of cardiovascular diseases, such as atherosclerosis or heart attacks, the fats should include little or no trans-fats and preferably include a substantial proportion as unsaturated fatty acids [such as olive oil, safflower oil], rather than saturated fatty acids [such as animal fat].  The protein may be in the form of animal or vegetable protein.  The carbohydrates should preferably not include large amounts of refined sugars or high fructose corn syrup, although oral or intravenous carbohydrate in the form of dextrose may be prescribed for therapy of acute attacks of porphyria.  However, day in and day out, even persons with one of the acute porphyrias should not be consuming large amounts of dextrose (sugar) or fructose. 
Nutritional Advice for Persons with Acute Porphyria.  The acute or inducible porphyrias include acute intermittent porphyria (AIP), hereditary coproporphyria (HCP), variegate porphyria (VP), and porphyria due to severe deficiency of ALA dehydratase (ALADP).  Most persons that have one of these forms of porphyria, all of which are due to inherited deficiencies in one of the enzymes of heme biosynthesis, have no symptoms or signs of porphyria most of the time.  They may, however, occasionally develop acute attacks, usually characterized by severe bouts of abdominal pain with increases in blood pressure and pulse rate and with severe constipation.  Sometimes, the pain may be in the chest, back or extremities instead of, or in addition to, the abdomen [belly].  Such attacks are characterized by a marked up-regulation of an enzyme in the liver called delta-aminolevulinic acid synthase 1 (ALAS1).  This up-regulation leads to a marked over production and urinary over-excretion of delta-aminolevulinic acid (ALA) and porphobilinogen (PBG), which are the biochemical hallmarks of acute porphyric attacks. 
The treatment of such acute attacks is focused on decreasing the up-regulation of hepatic ALAS1.  This is done by the administration of sugar [dextrose] and by the administration of heme, which must be given intravenously.  During acute attacks, patients often have nausea and vomiting, as well as disturbances of normal gastrointestinal function, so that it is necessary for the dextrose to be administered intravenously, as well.  If the attacks are less severe, however, patients may be able to take in dextrose orally, such as by adding sugar to orange juice, by sucking on hard candies, etc.  During such acute attacks, the usual therapeutic recommendations by experienced physicians are for the daily intake of dextrose or other metabolizable carbohydrates to be approximately 300 grams per day. 
          It is also important for persons with one of the acute porphyrias to avoid drugs or other factors that are known to be able to trigger acute attacks.  Chief among these are estrogen and especially progesterone.  Thus, some menstruating women unfortunately experience monthly symptoms during the middle of their menstrual cycles, around the time of ovulation, when their endogenous production of progesterone is at a peak.  Such women may benefit from drugs such as gonadotropin-releasing hormone antagonists [leuprolide] or low doses of oral contraceptives, which interrupt their normal monthly hormonal cycles.  Some benefit from receiving prophylactic infusions of Panhematin on a monthly basis, typically administered shortly before the time of the month when they ovulate [mid-menstrual cycle]. 
          A number of drugs and chemicals are capable of up-regulating hepatic ALAS1 and are thus best avoided by persons with acute porphyria.  Such drugs include barbiturates, such as phenobarbital, hydantoins such as phenytoin and carbamazepine, sulfonamides such as sulfamethoxazole or sulfisoxazole [and many others].  Another factor that is capable of triggering acute porphyric attacks is excess intake of alcoholic beverages.  Thus, persons with acute porphyria should avoid any binge drinking.  Good general advice is that men should drink alcohol either not at all or not more than two drinksl per day and women should drink not all or not more than one drink of alcohol per day. 
          Any acute stress such as an acute illness or severe emotional or psychological stress or exhaustion may also trigger acute porphyric attacks.  Therefore, patients with acute porphyria should receive vaccinations to protect them from preventable acute infections, including annual flu shots, Pneumovax [a vaccination that protects against development of pneumonias], vaccinations to protect against diphtheria pertussis and tetanus, with booster shots for tetanus at least every ten years, vaccinations to protect against hepatitis A or hepatitis B infection, and for those who have had chicken pox, the vaccination to protect against development of shingles (Zostrix).
          There is no convincing clinical or scientific evidence that any particular foods (with the exception of alcoholic beverages, as described above) are capable of triggering or worsening acute porphyric attacks.  There are, however, some foods that have been shown to contain chemical substances that, in large amounts, can up-regulate hepatic ALA synthase 1.  Such foods include charcoal-broiled meats, cabbage, and Brussels sprouts.  The amounts of such foods that would need to be eaten in order to produce induction of hepatic ALA synthase 1 have not been carefully studied, but are probably far above the amounts that would be eaten as part of reasonable, well balanced diets.  None of these foods needs to be avoided completely by persons with acute porphyria, unless they have true allergies to them, which are very uncommon.  Moderation in all things is the best course of action.  The Appendix lists suggested meal plans for persons with acute porphyria who are of normal weight and with normal daily needs for energy [~30-35 Kcal/kg BW/d].
Dieting in Acute Porphyria.  It is important that persons with acute porphyria avoid crash diets with extreme decreases in daily carbohydrate and caloric intakes.  However, it is also important that they avoid obesity.  If they already are obese, they should gradually lose weight.  This should be done with a formal diet plan and under the supervision of an experienced physician and nutritionist.
Sulfur Containing Amino Acids and Essential Amino Acids.  Our normal diets contain proteins.  In fact, regular and adequate intake of protein is essential to normal growth and health.  Proteins are found in both vegetable and animal sources of foods.  The building blocks of proteins are called amino acids.  Some of these amino acids, such as methionine and cysteine, contain sulfur.  Such amino acids are not the same thing as "sulfa drugs".  They are not contraindicated for patients with acute porphyria.  In fact, methionine is one of the nine essential amino acids:  if adequate amounts of these nine amino acids [histidine, isoleucine, leucine, lysine, methionine, phenylalanine, threonine, tryptophan, and valine] are not consumed regularly, deficiencies will develop that can lead to malnutrition and disease.  The reason is that humans are unable to make these amino acids and must take them in regularly, in order to achieve and maintain adequate levels to permit their bodies to make the hundreds of thousands of proteins that are essential for good health.
Porphyria Cutanea Tarda [PCT].  The major risk factors for the development of porphyria cutanea tarda are excess alcohol intake, cigarette smoking, increased iron, certain chronic viral infections, especially hepatitis C virus and human immunodeficiency virus, and estrogens.  About 20 to 25% of persons with porphyria cutanea tarda (PCT) also have a genetic predisposition in the form of a inherited partial deficiency of an enzyme called uroporphyrinogen decarboxylase.  However, such a deficiency in itself is not sufficient to produce symptomatic PCT; other factors are also needed.
          The main dietary advice for persons with porphyria cutanea tarda is to avoid all alcohol in any form.  In addition, adherence to a low iron diet with avoidance of any medicinal iron and with ingestion of limited amounts of liver or red meat, is recommended, at least until remission of active PCT has been achieved.  Remission is achieved by the removal of iron, usually by therapeutic phlebotomy, which is the removal of one unit of blood every week or two.  This is continued until an iron reduced state has been achieved.  Patients with active PCT typically require the removal of eight to twelve pints of blood, although this number is variable.  The progress of iron removal is best followed with serial measurements of serum ferritin.  The ideal serum ferritin is 50 to 100 ng per ml.  Typically, removal of one pint of blood will lead to a decrease in serum ferritin of about 30 ng per ml.  An alternative for the treatment of PCT, especially without acquired or inherited iron overload [hemochromatosis] is the use of low dose-antimalarial drugs, such as chloroquine or hydroxy-chloroquine.
Erythropoietic Protoporphyria [EPP].  In EPP there is excess production of protoporphyrin by developing red blood cells in the bone marrow.  This is due usually to an inherited deficiency in an enzyme called ferrochelatase or heme synthase, the final enzyme in the heme synthetic pathway.  A less common form of EPP is caused by an increase in activity of the erythroid form of ALA synthase [ALAS2], the first enzyme of the heme synthetic pathway. 
          Many persons with EPP have a mild degree of anemia with measures of iron that suggest iron deficiency.  Some such persons appear to benefit from iron administration, although often, despite taking medicinal iron, they continue to have low levels of serum iron, increases in iron binding capacity, and low levels of serum ferritin, suggesting that they are not absorbing the iron in a normal way.  For unknown reasons, a few persons with EPP and evidence of iron deficiency have seemed to worsen with iron administration.  Therefore, use of medicinal iron supplements in EPP should be undertaken carefully and with careful monitoring by an experienced physician.
          There also have been a few reports that intake of glucose has led to an improvement in EPP.  In addition, the use of intravenous heme [which contains iron] has been found to help improve liver damage in persons with EPP.
          For the most part, there is no particular special diet recommended for patients with EPP.  A varied well balanced diet with avoidance of excess calories and with assurance of adequate intakes of iron and other minerals and vitamins is recommended.
Rare Cutaneous forms of Porphyria.  Congenital Erythropoietic Porphyria.  CEP is a rare genetic disorder characterized by deficient activity of an enzyme called uroporphyrinogen 3 synthase (also sometimes called uroporphyrinogen co-synthase).  It is characterized by severe over-production of uroporphyrin 1, which is manifest at birth and in the neonatal period.  There is no particular diet that is indicated or recommended for persons with CEP.  The same thing may be said of the rare form of cutaneous porphyria called hepato erythropoietic porphyria, which presents in the new born period, as does CEP, but which is due to severe deficiency of uroporphyrinogen decarboxylase (homozygous or compound heterozygous deficiency). 
Advice about Vitamins and Minerals:  For most Americans who are consuming mixed, well-balanced diets, there is no need for routine use of vitamin or mineral supplements.  Persons who consume few dairy products [milk, yogurt, cheese, etc] and older persons, especially women, and those with little exposure to sunlight are prone to develop deficiencies of vitamin D and to have inadequate intake of calcium.  Thus, they should have their serum levels of 25-hydroxy vitamin D checked and should seek advice of a well-trained physician or nutritionist regarding supplements of vitamin D and calcium.  There is potential harm from the excessive intake of vitamin D or calcium, or of excessive intakes of other fat-soluble vitamins [vitamins A and E].  Thus, moderation in intake is best.  There is little harm, but also little likelihood of benefit, in the intake of water-soluble vitamins [vitamins B and C].  Iron may trigger or worsen porphyria cutanea tarda, and it may also increase levels of hepatic ALA synthase 1.  Thus, it should not be taken in medicinal form unless there is evidence of iron deficiency.  There is little reason for anyone with porphyria [or most without porphyria] to take in supplemental copper, zinc, selenium, chromium, silver, gold, or other  metals.
Advice about Herbal Remedies and Dietary Supplements.  Herbal remedies and dietary supplements (HDS) have become popular in the USA and in many other parts of the world.  In fact, there is widespread irrational enthusiasm for taking such supplements.  We recommend against their use because the composition and purity of them are uncertain.  They are unregulated by the US Food and Drug Administration, and they have not been shown to be safe and effective.  Many of them probably contain chemicals that are capable of up-regulating hepatic ALAS1 and thus of triggering or exacerbating acute porphyria.  In addition, they often are adulterated with potentially toxic substances, such as heavy metals.
"Remember.....Research is the key to your cure!"

Wednesday, August 21, 2013

CME Course

Continuing Medical Education (CME) 
Physicians are required to have Annual Continuing Medical Education courses.  Fortunately, they have the opportunity to take this outstanding CME course about Acute Porphyrias and receive CME credit.  Please tell your doctor about this course which was offered last year and has been brought back by demand and is offered at the following link.  CME courses require registration but most physicians are already registered.





Herbert L. Bonkovsky, MD; Manisha Balwani, MD, MS; Karl E. Anderson, MD; Brendan Martin McGuire, MD, MS Faculty and Disclosures.  CME Released: 01/19/2010; Reviewed and Renewed: 07/08/2013; Valid for credit through 07/08/2014

 This activity is intended for hematologists, gastroenterologists, primary care physicians, emergency medicine physicians, obstetricians/gynecologists, and other healthcare professionals who may encounter patients with the acute porphyrias.
The goal of this activity is to provide an informative discussion on some of the major issues associated with acute porphyrias, including recognition, evaluation, treatment, complications, and prevention.

Upon completion of this activity, participants will be able to:
  1. Recognize signs and symptoms of and conduct appropriate testing to promptly and accurately diagnose the acute porphyria
  2.  Evaluate current recommendations and emerging approaches for the management of the acute porphyrias
  3. Discuss complications associated with the acute porphyrias and their treatment

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

Monday, August 19, 2013

Protecting Your Job While Coping With a Chronic Illness

Protecting Your Job While Coping With a Chronic Illness

Dawn Villella for The New York Times
Natasha Frechette, diagnosed with multiple sclerosis two years ago, has continued her job at Navigo Research in Brooklyn Park, Minn., with the help of an understanding boss and supportive colleagues.
Published: June 19, 2009

IT started with an odd sensation in her right hand and a feeling of exhaustion so profound she could hardly get through an hour of work, let alone a full day.
After numerous tests and countless doctors’ visits, Natasha Frechette, then 27, learned she had multiple sclerosis, a disease that attacks the central nervous system and can cause numbness, blindness and eventualparalysis.
In addition to grappling with the diagnosis, Ms. Frechette was concerned about keeping her job as a data manager for a small research organization in Brooklyn Park, Minn. “I didn’t want to have to depend on someone to take care of me,” she said. "But I know that I could wake up tomorrow and not be able to walk."
Workers with chronic illnesses face chronic uncertainty, forced to worry not only about their health but about their jobs as well. The protections afforded chronically ill workers in the United States are thin and somewhat vague. To protect their health and their jobs, workers must navigate employers’ policies, which may include short- and long-term disability plans, as well as a patchwork of federal laws and regulations.
A recent study by the Center for Economics and Policy Research, a Washington research organization, found that among 22 rich nations, the United States was the only one that did not guarantee workers paid time off for illness.
Most other countries provide their workers not only with paid sick days, but also time off for cancer treatments, the study found. German citizens, for example, are allowed five sick days and 44 days for cancer treatment, if needed, in addition to vacation days.
Most employers in the United States allow employees to take days off for minor ailments, like the flu or outpatient operations, without docking their pay. And 41 percent offer employees days off — nine, on average — for illness or other reasons, in addition to vacation days, according to a 2007 survey by Mercer, a benefits consulting business based in New York.
But when an employee has a serious or chronic illness, like diabetesmajor depression orlupus, the rules about time off become murky.
Two laws offer workers some relief. The Family and Medical Leave Act allows employees to take up to 12 weeks off each year for medical or family emergencies — but without pay. And the Americans With Disabilities Act requires employers to make reasonable adjustments for disabled workers, often in the form of additional time off.
Ms. Frechette explained her condition to her supervisor and said she would need time off for physical and occupational therapy. Her boss readily agreed, and Ms. Frechette, who plans to marry this fall, continues to work full time.
“I’m careful,” she said. "I don’t want my disease to be seen as a cop-out.”
If you are dealing with an chronic illness, here are some strategies to help you maintain your job.
INFORM YOUR EMPLOYER If you have a condition that could interfere with your performance, tell your boss. “People are often afraid of being discriminated against,” saidRosalind Joffe, a career coach who counsels people with chronic illnesses. “I had one client who didn’t disclose his illness to anyone. His odd behavior led his boss to conclude he was a drug abuser.”
Be honest. Explain what your condition is and how it might affect your work. “Don’t be ashamed,” Ms. Frechette said.
A supervisor who understands what is wrong is less likely to make false assumptions about what you can and cannot do. “Be clear about your value and what you can deliver,” Ms. Joffe said. “If you’re a valued employee, your boss will work with you.”
If you feel you are being unfairly treated, speak with your supervisor. If that doesn’t work, go to the human resources department.
ASK FOR ADJUSTMENTS If your illness meets the definition of a disability, your employer is required to make reasonable accommodations to your job or work environment, according to the Americans With Disabilities Act.
What is a disability? “It’s a physical or mental impairment that substantially limits one or more major life activities,” said Chris Kuczynski, director of the division that deals with the disability act at the federal Equal Employment Opportunity Commission.
Although your illness may be episodic or controlled by medications, it is still a disability, according to a recent amendment to the law.
Your employer does not have to provide an accommodation if it would impose significant difficulty or expense. Asking for a car and driver to take you to and from work would probably not be reasonable, Mr. Kuczynski said. But taking time off for chemotherapytreatments certainly would.
According to the Society for Human Resource Managers, the top five accommodations for the disability act provided by employers in 2005 (the last year for which data are available) were parking or transportation modifications, making existing facilities accessible, offering new equipment to workers, restructuring jobs and modifying the work environment.
If you are not sure what type of accommodations you are entitled to or how to ask for them, contact the Job Accommodation Network (800-526-7234), a service provided by the federal Department of Labor. In general, the network recommends that you put your request to your employer in writing. If you work in a small, informal setting, that may not be necessary.
KNOW THE TIME-OFF POLICIES You can learn about the on-the-books rules by going to your company’s intranet or speaking with its human resources department.
If you need to take a few weeks or months off for an operation, for example, or chemotherapy, research your company’s short- and long-term disability plans. Disability policies typically allow you to take a specific time off at reduced pay. According to Mercer, the consulting firm, 78 percent of employers offer short-term plans and 80 percent offer long-term disability plans.
You can also tap into your 12 weeks of family and medical leave at any time. You may take the time intermittently or all at once. You will not be paid, but your job will be secure.
EXPLORE ALTERNATIVES If the hours are too long or the work is too taxing to handle while you are ill, find out whether you could work part time or could even take a different job in your company.
If neither is feasible, explore new career possibilities. One of Ms. Joffe’s clients was a high-powered lawyer who had a serious heart condition. To reduce stress, he decided to give up litigation and become a teacher.
If you are worried about your finances or health insurance, be sure to check with the advocacy organization focused on your disease. The American Cancer Society, for instance, has a call center (800-227-2345) that helps people who don’t have health insurance or are on the verge of losing it.
If your illness finally prohibits you from working altogether, you may apply for Social Security disability insurance. The process is lengthy, and you must be able to prove that you cannot work at any job. The amount you are paid is based on your lifetime earnings — you can find the number on the annual statement you receive from the Social Security Administration.
Generally, payments are modest: the average in 2008 was $1,063 a month. But once you have received disability payments for two years, you automatically qualify for Medicarecoverage..
"Remember....Research is the key to your cure!"

Attention: Important Announcement for AIP Study

Alnylam Pharmaceutical will begin research on their new treatmen, ALN-AS1,t for AIP in early 2014. The APF will be working with Alnylam locating patient volunteers etc. 
ALN-AS1 is a subcutaneous RNAi therapeutic targeting aminolevulinate synthase-1 (ALAS-1) for the treatment of acute intermittent porphyria (AIP), an ultra-rare genetic disease. ALN-AS1 has the potential to be a therapy for the treatment of acute porphyria attacks, as well as a prophylactic approach for the prevention of recurrent attacks. Our first meeting on the subject was very exciting. Plus , the scientists presented a n overrview of the reseach at the International Porphyria Conference I will be meeting again with them in Sept and will tell you all the details. Research volunteers will be needed . If you are interested, contact me as we are beginning a list now please call and contact Desiree Lyons 866-apf-3635.


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

Friday, August 16, 2013

Happy & Healthy

Have a Happy & Enjoyable weekend to all.

www.porphyriafoundation.com

Be Well, Stay Well


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

Wednesday, August 14, 2013

Fun Facts: OF PCT SYMPTOMS

Did you know: Symptoms of PCT

The most common symptoms of PCT are fragility and blistering of light-exposed areas of the skin—especially the backs of the hands, the lower arms and the face. Patients often report that their skin is unusually fragile, so small bumps or knocks can scrape away the upper layer of the skin or cause a blister. The blisters contain fluid, rupture easily, crust over and then heal slowly. Skin infections, scarring and changes in coloration may result. Small white spots called "milia" are commonly found on the hands and fingers.

Another feature which is often seen is excessive growth of facial hair. The reason for this is not at present understood, but once the disease is under control, the hair can usually be easily and effectively removed by conventional methods. Some patients develop severe scarring and thickening of the skin, which is referred to as "pseudoscleroderma".

PCT is accompanied by some degree of liver damage. This is often mild or moderate. But over time there is a risk of developing cirrhosis and even liver cancer. Liver damage in PCT may be due in part to the excess porphyrins, which accumulate in very large amounts particularly in the liver. But other factors, such as alcohol, Hepatitis C and excess iron, can be important causes of liver damage.

Neurological symptoms, which are common in acute porphyrias, such as pain in the abdomen and extremities, are not features of PCT.


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

Please Support the American Porphyria Foundation- We need your help.

Support the American Porphyria Foundation



Please support  the American Porphyria Foundation today. When you support the APF, you are making a contribution to an organization that provides solid medical information, hope and essential support to those affected by porphyria. You can be proud to be an integral part of the help we provide patients on the road accurate diagnosis, proper care, and hopefully someday a cure.

We welcome donations by phone, mail, fax, or online. Please call us with toll free at 1-866-APF-3635 Monday-Friday from 9:00 a.m. to 4:00 p.m. CST. We accept VISA or Mastercard.
You may choose to honor a friend or loved one with your donation, or to remember someone with a memorial gift. 
 You can give online with a major credit card via PayPal:
 
Or you can click here to fill out and print a donation form, which you may fax or mail to our office:

American Porphyria Foundation
4900 Woodway, Suite 780
Houston, TX 77056

Matching Gifts
Many companies offer matching gift programs to encourage their employees to make charitable contributions. Most of these programs match your contribution dollar for dollar, and some will even double or triple the amount of your gift.

To find out if your company will match gifts to the APF, please contact your employer to request their matching gift form and send it to us with your donation.

Financial Information

The American Porphyria Foundation was incorporated in 1983 as a tax-exempt 501(c)(3) organization. All contributions, grants and bequests are tax deductible. Our most recent 990 tax forms are available from the office.

Our work is supported primarily through donor contributions. We do not receive or use government funds.

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

Mobile Web App for Safe/Unsafe Drug List

Mobile Web App for Safe/Unsafe Drug List


Screenshot_mobile web app safe unsafe list 
We sincerely appreciate the hard work of APF member, Mr. Nicholas Frias , who designed a fantastic Mobile Web App for the Safe/Unsafe Drug List for the Acute Porphyrias.  He combined the APF list and the European and South African lists to create an easy to search list.

This Mobile Web App is very simple to use.   All you need to do is enter porphyriadrugs.com into your mobile device web browser to access it.  Follow easy instructions to add the list to your home screen.
 



  The desktop version works well, too.  Mr. Frias will be updating the list with the assistance of porphyria expert, Dr. Peter Tishler.  There is a comment section to track glitches in the system, so please feel free to add your comments, as Mr. Frias will continue to update the site.​
This is a very special gift from Mr. Frias to people who have one of the acute porphyrias.  Please join the APF in sending him our sincerest thanks.

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

For Healthcare Professionals

For Healthcare Professionals


This section of the website includes more detailed information about the three most common types of Porphyria: AIP (and the clinically similar HCP, VP & ADP), EPP and PCT. For more general information, please see the About Porphyria section of the site. A more in depth discussion of diagnostic issues in the porphyrias can be found in the Testing and Treatment section of our website.
You will also find one free, online Continuing Medical Education course on the acute porphyrias, and a Powerpoint presentation on the porphyrias. You may also call our officeto order a copy of our free physician education packet.
Clinicians and researchers specializing in Porphyria are available to consult on suspected or confirmed cases of Porphyria, and to discuss the individual course of treatment. Some specialists can assist with diagnostic testing, and some are available for clinical consultation with patients. There is one telemedicine facility for Porphyria consultation in the country, at the University of Texas-Medical branch, in Galveston.
Please call the APF office at 713-266-9617 for information on contacting the specialist who can best answer your concerns.
The APF encourages you to let Porphyria patients know about our organization and our programs.  We publish educational brochures, written by Porphyria experts for a lay audience, and a quarterly newsletter in addition to this website. We also offer members a national support network, which for some people provides the first-in-a-lifetime opportunity to speak with someone who shares their diagnosis.
 "Remember.... Research is the key to your cure!"

Monday, August 12, 2013

APF Newsletter's Past and Present

Please be sure to take so time to read about the American Porphyria Foundation's Newsletters!  You can read about Dr. Info expert advice, suggestions, member stories tips on all the types of Porphyria.  Click on this link: http://www.porphyriafoundation.com/news/newsletter.

     If you would love to receive the newsletter in your mailbox please check out how you can become a member today.  Contact Yvette @ the American Porphyria Foundation @ 866-APF-3635 or email her today @ Porphyrus@aol.com.


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




Friday, August 9, 2013

Read about our new APF FB Admin Pierre Mouledoux


We would love to welcome out new FB Admin to the EPP,CEP group Pierre Mouledoux.
I asked Pierre a few questions so that we could all get to know about him & his family.  His background is very interesting and also how he has been able to support the
American Porphyria Foundation.  Thank you for opening up Pierre and I hope everyone enjoys reading this.
Pierre Mouledoux is a licensed real estate agent and the project manager for Sperry Van Ness/Gilmore Auction & Realty Co. in New Orleans. Pierre recently received his Notary commission after successfully passing the Notary examination. He currently serves as State Publicity Chairman for Louisiana Ducks Unlimited State Committee, and is a member of both the Jefferson Parish Ducks Unlimited and New Orleans Ducks Unlimited Committees. Pierre and his darling wife Alyse are expecting their first child due in January 2014. He is also an 2003 Eagle Scout of Troop 230 in Metairie, LA.
Having EPP severely limited his passion for the outdoors. Living in south Louisiana and being covered up as the current “cure” suggests made being outdoors that much more unbearable from the heat, humidity, and obviously the light.
After a reaction, a cold dark room with damp towels, ice packs, and hypo-allergenic baby lotion was what was in store for recovery.
Pierre was diagnosed with EPP at the age of 7 by an intern at Charity Hospital in New Orleans in 1992 after a long battery of tests in order to determine his light sensitivity. He became active in the EPP community after joining the American Porphyria Foundation and its Facebook groups. He participated in the phase III trials of Clinuvel’s Scenesse with the real drug and had promising results. The drug allowed him to do the things he loves such as hunting, fishing, and outdoor cooking.
He recently attended the FDA meeting in Washington DC to push for the approval of Clinuvel’s Scenesse and explain the success he had with the drug.
Pierre has been made an administrator of the APF Facebook Group EPP/CEP.

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


Wednesday, August 7, 2013

Please read Urgent 4.5 million grant for Porphyria How you can get involved.

The Porphyria Research Consortium has a an excellent chance at winning a $4.5 million research grant but YOU are needed. Unless we can locate enough research patients there can be no research trials. These projects are different than others. All that is required of YOU is to donate some of YOUR blood, swab YOUR cheeks for DNA and answer a questionnaire. There are seven studies in which you can choose to participate. Please contact Hetanshi Naik at hetanshi.caik.mssm.edu or the APF. 
To be eligible for the Longitudinal Study of the Porphyrias:
Must have a confirmed diagnosis of one of the porphyrias
It is preferable if patients are able to come to a participating center to be clinically evaluated (through insurance if possible)
If patients cannot come to a center they can be seen by a local physician and have their records sent to a participating center along with the necessary samples (DNA, porphyria labs, etc)
To participate in the following studies the patient MUST already be in the Longitudinal Study:
Erythropoietic Protoporphyrias: Studies of the Natural History, Genotype-Phenotype Correlations, and Psychosocial Impact
Mitoferrin-1 Expression in Patients with Erythropoietic Protoporphyria
Quantification of the Effects of Isoniazid Treatment in Erythrocyte and Plasma Protoporphyrin IX Concentration and Plasma Aminolevulinic Acid in Patients with Erythropoietic Protoporphyria
To participate in Clinical Diagnosis of Acute Porphyrias, there are two parts:
Part 1 is looking for 1st degree relatives of patients with confirmed DNA diagnoses of the acute porphyrias (the patients who are subsequently diagnosed with an acute porphyria through this study are then eligible to participate in the Longitudinal Study)- We are only recruiting for this part right now
Part 2 is looking for patients with mild elevations in urine porphyrins and symptoms consistent with acute porphyria but who do not have a confirmed diagnosis yet (again, patients who are subsequently diagnosed with an acute porphyria through this study are then eligible to participate in the Longitudinal Study)
For this study patients do not need to visit a participating center but it is preferred that they do
To participate in Hydroxychloroquine vs. phlebotomy for porphyria cutanea tarda :
Patients must have a biochemically confirmed diagnosis of PCT, these patients are also eligible to be in the Longitudinal Study however it is not required that they be in the Longitudinal Study to be in this study
They must also be over 18 years of age and willing to take precautions to prevent pregnancy 
For this study the patients need to visit a participating center
CALL THE APF IF YOU WOULD LIKE FURTHER INFO AND ASK FOR DESIREE OR EMAIL HETANSHI NIAK AT THE Mount Sinai Medical School in NYC @ 
 hetanshi.naik@mssm.edu

"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...