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Showing posts from March, 2014

Global Porphyria Alliance What is it? Check it out!

Global Porphyria AllianceAPF members live all over the globe. We hope that they will soon be able to enjoy the same opportunity to communicate with one another, develop friendships, and learn about porphyria in their own language.Out of concern for others with porphyria in countries around the world, we hope to place a translation of the For Physician's section of the website in specific languages. The first such translation is already available in Portuguese. This is an enormously important project, and it will require your help.If you would like to help us extend a hand of friendship and understanding to our friends outside the English-speaking countries, or if you want more information about the Global Porphyria Alliance, please call us at 866-APF-3635 (866-273-3635).Argentina: Centro de investigaciones sobre porfirinas y porfirias | More information
Australia: Porphyria Association, Inc. | More information
Brazil: Associação Brasileira de Porfiria | More information
Canada: Albe…

Notice News From Desiree Lyon

Notice. Along with the Palm Beach patient education meeting on april 5 , there will be other meetings throughout the year. Please watch the APF website for dates and cities .
Here are a few definite cites but approx. dates. More meetings and details to be Announced.


Boston, MA.  Nov 7-11


San Francisco, CA.  Dec. 6-9 


Houston, TX.  July 2,


Santa Rosa Beach, FL. (Between Destin and Panama City).  Oct 11-14. Or early June.

Los Angeles , CA.

Atlanta, GA.

Chicago, IL.

If you would like to be a part of these exciting Patient Education meetings please contact the American Porphyria Foundation at 866-apf-3635 or visit porphyriafoundation.com

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

DNA Testing at Patient Educational Meeting in West Palm Beach FL

DNA testing at Patient Educational Meeting in West Palm Beach, FL
Dear Members, Dr. Desnick will perform DNA testing during the patient educational meeting at Hyatt Place, West Palm Beach, FL on April 5. DNA testing will be offered for those of you who have a copy of the medical records or confirmed porphyria test results.Do not miss an exciting opportunity to meet with the renowned porphyria experts Dr. John Phillips and Dr. Robert Desnick! If you still do not have a reservation, contact the APF: 866-APF-3635.
Details of the meeting:
APF Patient Education MeetingApril 5, 2014   3:00pm-5:00pm
Hyatt Place West Palm Beach/Downtown - Trinity Room
295 Lakeview Ave, West Palm Beach, FL 33401.
Seating is limited.


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

What is VP? The Facts

Variegate Porphyria (VP)
This form of hepatic Porphyria is most common in South Africans of Dutch ancestry. It is relatively uncommon elsewhere. It is an autosomal dominant disorder and may produce acute attacks (as in AIP) as well as chronic skin photosensitivity. The deficient enzyme is protoporphyrinogen oxidase. In acute attacks, urine PBG is increased as in AIP. Diagnosis of latent carriers is made by finding excess coproporphyrin in urine and both coproporphyrin and protoporphyrin in feces, or by DNA mutation analysis (see AIP). The most sensitive screening test for VP is probably a plasma porphyrin assay. In patients with skin manifestations, it is important to distinguish VP or HCP from PCT, because treatment by phlebotomy or low-dose chloroquine is ineffective in VP and HCP. Acute attacks are managed and may be prevented as in AIP.
“Remember…..Research is the key to your cure!”

All about EPP!

Erythropoietic Protoporphyria (EPP) or Protoporphyria

Erythropoietic Protoporphyria (EPP) or Protoporphyria Erythropoietic Protoporphyria is characterized by abnormally elevated levels of protoporphyrin IX in erythrocytes (red blood cells) and plasma (the fluid portion of circulating blood), and by sensitivity to visible light that is usually noticed in early childhood and occurs throughout life.  EPP can result either from mutations of the ferrochelatase gene (FECH), or less commonly the delta-aminolevulinic acid synthase-2 gene (ALAS2).  When EPP is due to an ALAS2 mutation it is termed X-linked protoporphyria (XLP), because that gene is found on the X chromosome.  Protoporphyrin accumulates first in the bone marrow in EPP, and then in red blood cells, plasma and sometimes the liver. Protoporphyrin is excreted by the liver into the bile, after which it enters the intestine and is excreted in the feces. It is not soluble in water, so is not excreted in the urine.  EPP is the third mo…

Resources for Acute Porphyria patients

If you have Acute type Porphyria and need additional resources for your Dr check these out below:
Resources for your patients Encourage your patient to learn as much as possible about AIP by visiting these websites:The American Porphyria Foundation was founded in 1982 to educate doctors and the general public, raise funds for research, and advocate for better policy and patient care.Genetic and Rare Diseases Information Center (GARD) of the National Institutes of Health is a resource for patients, their families, and others with an interest in genetic conditions and rare diseases.The National Organization for Rare Disorders (NORD) was founded in 1983 as a unique federation of voluntary health organizations dedicated to helping people with rare "orphan" diseases.The Merck Manual offers an informative page about AIP and its signs and symptoms.The U.S. National Library of Medicine is the world’s largest medical library. Its porphyria page draws from information from the Nation…

EMA’s review of SCENESSE® extended to mid-2014

EMA’s review of SCENESSE® extended to mid-2014Melbourne, Australia and Baar, Switzerland, January 30, 2014
Clinuvel Pharmaceuticals Limited (ASX: CUV; XETRA-DAX: UR9; ADR: CLVLY) today announced that the European Medicines Agency has extended the marketing authorisation application (MAA) review period for its drug SCENESSE® (afamelanotide 16mg implant) to mid-2014. Clinuvel’s MAA for SCENESSE® is aimed at a preventative treatment of the orphan (rare) light-intolerance disorder, erythropoietic protoporphyria (EPP) in adult patients. Clinuvel filed the MAA with the Agency in February 2012.“The review of a first-in-class drug, albeit for an untested disease in which light exposure plays a dominant role, was always going to be subject of a lengthy regulatory review,” Clinuvel’s acting Chief Scientific Officer, Dr Dennis Wright said. “In this case, the Agency has requested additional time to review the clinical data of the US Phase III study in EPP (CUV039) study which was submitted last y…

Running over obstacles to raise Awareness for Porphyria

Running over obstacles to raise Awareness for PorphyriaMerideth McGinley is a new APF member but is already a very active one.  Merideth says that the main goal of her fundraising event is to raise as much awareness for porphyria as possible. Merideth says, "My last visit to the hospital really opened up my eyes to how little medical professionals really know about the disease.  If my fundraiser can help just one person has an easier experience with getting diagnosed then I will feel like I truly accomplished something."  She goes on to say, "When I was 19 years old, I was diagnosed with Acute Intermittent Porphyria.  Since being diagnosed in 2008, I have been in and out of the hospital and it has made me realize many people along with medical professionals do not know what Acute Intermittent Porphyria is or how to treat it.  Read more…
I have decided to run in the Warrior Dash on August 3rd in order to raise money and awareness about this disease. Read more about the W…

News, Views and Upcoming Events

Patient Education Meeting in Hyatt Place, West Palm Beach, Florida The American Porphyria Foundation will be hosting a patient education meeting in West Palm Beach, FL on April 5, 2014 from 3:oo pm to 5:00 pm EDT.
Dr. Robert Desnick and other renowned porphyria experts will be presenting and answering your questions. The meeting is a wonderful opportunity to meet face to face with the experts and ask your questions. It is also a great moment to meet and join other patients. If you are interested in participating, please contact the APF 1.866.APF.3635 or email at apfnatalia@gmail.com. You can also join a research project. To hear more about hot to get involved, please contact the APF.
Details of the meeting:
APF Patient Education MeetingApril 5, 2014  3:00pm-5:00pm
Hyatt Place West Palm Beach/Downtown - Trinity Room
295 Lakeview Ave, West Palm Beach, FL 33401.
Seating is limited.

New APF Video Is Coming SoonWe are glad to announce that last week the APF has produced a short video on porphyria…

Porphyria and YOU!

Do you or a family member have Porphyria?  Does a family member have it and you think you might to?  Do your symptoms seem to indicate Porphyria?  Email me if your interested in seeing how you can sign up for the RDCRN registry to see if you qualify for a research project, there are many studies for all types.  Will you consider joining, please email me Amy.APF@gmail.com
Porphyria is not a single disease but a group of at least eight disorders that differ considerably from each other. A common feature in all porphyrias is the accumulation in the body of porphyrins or porphyrin precursors. Although these are normal body chemicals, they normally do not accumulate. Precisely which of these chemicals builds up depends on the type of porphyria.The terms porphyrin and porphyria are derived from the Greek word porphyrus, meaning purple. Urine from some porphyria patients may be reddish in color due to the presence of excess porphyrins and related substances in the urine, and the urine may dar…