Skip to main content


Showing posts from March, 2016

Desiree Lyon Howe to receive the NORD Rare Impact Award

Desiree Lyon Howe to receive the NORD Rare Impact Award
Desiree Lyon Howe will be receiving the Rare Impact Award in Washington, DC on May 17, 2016 for her many accomplishments to further porphyria research, awareness and education.  This prestigious award is given on behalf of the National Organization for Rare Diseases and the 30 million Americans they represent. 
Desiree's response to the news was, "The staff and the members of the American Porphyria Foundation work together to make these advances possible.  I share this Award with each of them."
You may view the official announcement here:

WHEN TRAGEDY STRIKES—HOW YOU CAN COPE Loss Of Health A personal Example!

COVER SUBJECT | WHEN TRAGEDY STRIKES—HOW YOU CAN COPE Loss Of Health Mabel, in Argentina, led an active life and worked as a physical-rehabilitation therapist. In 2007, she began to feel especially tired and to have severe headaches daily. “I went to several doctors and tried all kinds of medications,” she says, “but nothing helped.” Finally, Mabel had an MRI scan, which showed that she had a brain tumor. She says: “I was stunned! I couldn’t believe that I had been living with this enemy inside me.
“Still, I didn’t really understand how serious my situation was until after I had surgery. When I woke up in intensive care, I couldn’t move. All I could do was stare at the ceiling. Before the surgery I had been active and independent. Suddenly I could do nothing. My days in intensive care were filled with confusion and noise from medical equipment, emergency alarms, and moans from other patients. I felt as though I could breathe the pain and suffering in the air. “Today, I have recuperate…

Acute Porphyria Emergency Reminders

THE PORPHYRIA RESEARCH CONSORTIUM of the Rare Disease Clinical Research Network of the NIH As a reminder, the Porphyria Research Consortium is a team of experts who are conducting the major life saving research for all of us. Dr. Montgomery Bissell, University of California, San Francisco; Dr. Karl Anderson, University of Texas Medical Branch; Dr. John Phillips,University of Utah; Dr. Herbert Bonkovsky, University of North Carolina; Dr. Joseph Bloomer, University of Alabama and Dr. Robert Desnick, Mount Sinai School of Medicine. Desnick Bloomer Anderson Phillips Bonkovsky Bissell Research volunteers are needed for all types of porphyria, including a research project for a new Alnylam treatment for the acute porphyrias. It only takes one day out of your life, please call the APF office asap and become a Medical Hero. 

YOU are the KEY because RESEARCH IS THE KEY TO YOUR CURE. Call the APF 1.866 APF.3635 EMERGENCY ROOM GUIDELINES KEY POINTS The APF website has an Emergency Room Guidelin…

Are you ready for NPAW 2016? We are ready to raise Awareness!

National Porphyria Awareness Week 2016
This is the time of year that each of YOU has the opportunity to reach out to advance porphyria awarenss in your local and medical communities.  YOU are key to spreading knowledge about porphyria. For example, the Cook family has enhanced awareness in Vernon, TX by hosting a Barrel Race and educating kids in school about EPP. Amanda Boston teaches her nurses and doctors about porphyria with her every hospitalization. Claire and Bob Sadowniczak manned the APF porphyria booth at the Hematology Convention. Louise Schlosser is hosting a patient support  meeting.  Amy Chapman writes a blog and Rob Saupe' assists with the APF website, Amy Rose Burke is a Facebook administrator. There are countless ways to enhance awareness.  The APF will provide you with materials to help with your venue and will be glad to make suggestions to accomplish your goals if you need assistance. There are many ways to spread awareness in your own community, including the …

NIH Overview of ALL Porphyrias

What is porphyria? Porphyria is a group of disorders caused by abnormalities in the chemical steps that lead to heme production. Heme is a vital molecule for all of the body's organs, although it is most abundant in the blood, bone marrow, and liver. Heme is a component of several iron-containing proteins called hemoproteins, including hemoglobin (the protein that carries oxygen in the blood). Researchers have identified several types of porphyria, which are distinguished by their genetic cause and their signs and symptoms. Some types of porphyria, called cutaneous porphyrias, primarily affect the skin. Areas of skin exposed to the sun become fragile and blistered, which can lead to infection, scarring, changes in skin coloring (pigmentation), and increased hair growth. Cutaneous porphyrias include congenital erythropoietic porphyria, erythropoietic protoporphyria, hepatoerythropoietic porphyria, and porphyria cutanea tarda. Other types of porphyria, called acute porphyrias, prim…

Cutaneous Porphyrias: Porphyria Cutanea Tarda (PCT)

The Cutaneous PorphyriasCutaneous porphyrias primarily affect the skin. Areas of skin exposed to the sun become fragile and blistered, which can lead to infection, scarring, changes in skin coloring (pigmentation), and increased hair growth. Cutaneous porphyrias include congenital erythropoietic porphyria, erythropoietic protoporphyria and X-linked protoporphyria, porphyria cutanea tarda, and hepatoerythropoietic porphyria. Cutaneous Porphyrias: Porphyria Cutanea Tarda (PCT)What is PCT? PCT is a deficiency of the enzyme uroporphyrinogen decarboxylase. Cutaneous blisters develop on sun-exposed areas of the skin, such as the hands and face. The skin in these areas may blister or peel after minor trauma. Increased hair growth, as well as darkening and thickening of the skin may also occur. Neurological and abdominal symptoms are not characteristic of PCT. Liver function abnormalities are common, but are usually mild. PCT is often associated with hepatitis C infection, which also can cause…

Erythropoietic Protoporphyria (EPP) and X-Linked Protoporphyria (XLP)

Erythropoietic Protoporphyria (EPP) and X-Linked Protoporphyria (XLP) Erythropoietic Protoporphyria is a disease of porphyrin metabolism characterized by abnormally elevated levels of protoporphyrin IX in erythocytes (mature blood cells), feces and plasma (the fluid portion of circulating blood), and by sensitivity to visible light. This sensitivity manifests itself as a burning sensation in the skin, followed by varying degrees of erythema (redness of the skin due to capillary dilation) and edema (swelling caused by excess fluids). Consequently, patients with the disorder commonly avoid exposure of the skin to strong light. They tend to choose indoor occupations and nocturnal work, or to venture outdoors while heavily clothed to protect the skin. Diagnosis EPP is diagnosed in patients with light sensitivity by testing blood and stool for the presence of abnormally high levels of protoporphyrin. Contrary to what is found in the other porphyrias, urine porphyrin levels remain within n…

2016 Pet Beauty Contest

Back by popular demand - we are hosting the 2nd Pet Beauty Contest. We can have FUN and FUNdraise to enhance Porphyria Awareness.
To enter the contest, all you need to do is mail or email your pet's name and photograph to the APF. Pigs, dogs, cats, hamsters, snakes, goats, cows, etc. - all pets are welcome, because all pets are beautiful!!! It is FREE to enter the competition! Your pet's photo will be posted on the APF website for all to see.
Once your pet's photo is on the website, ask friends to vote for your pet with a $1 donation per vote and return the votes to the APF by April 16th, the beginning of National Porphyria Awareness Week. You can collect your pet's votes individually or together and send them to the APF.
There are two categories of winners: 1. The pet who collects the most votes/donations; 2. The pet who gets the most people to vote/donate.
The winners will receive wonderful trophies and a story of their pet in the next newsletter and…

Can you attend? Patient Education Meeting in Houston, TX

Patient Education Meeting in Houston, TX
Don't forget about the next Patient Education Meeting in Houston, TX!
Date and Time: Monday, March 14, 2016, 6:30 PM CT
Location: 73 Saddlebrook Lane, Houston, TX 77024
*Presentation by World Renowned Porphyria Expert, Dr. Karl Anderson *Meeting with the APF's Executive Director Desiree Lyon *Opportunity to Participate in a Q & A Session *Meet Friends who Share Your Experiences with Porphyria *View the Latest Educational Material from the American Porphyria Foundation
You are welcome to bring family members and friends.
Please RSVP: 1.866.APF.3635 or

*Other APF members have scheduled patient meetings around the country for National Porphyria Awareness Week (April 16-23). Please let us know if you'd like to host a patient meeting in your area. More information on these meetings will be coming soon!

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

Health of the mind Poem

Updated Porphyria Overview please share

Porphyria is the umbrella term for a group of rare disorders that involve a particular molecule called ‘heme’ or ‘haem’. Heme contains iron and is used in metabolic processes throughout the body. Porphyria occurs when the body cannot convert naturally occurring compounds (called ‘porphyrins’) into heme.

While all tissues have heme, those that use it the most are the red blood cells, liver and bone marrow. Porphyria can affect the skin, nervous system and gastrointestinal system, depending on the specific type.

In most cases, the cause is a combination of genetic and environmental factors. More women than men are affected for reasons unknown. There is no cure but treatments are available to manage the symptoms. 
SymptomsSymptoms vary from one type of porphyria to the next. Cases are generally classified into one of three groups, which include:
Acute porphyrias – the condition mostly affects the nervous system. The skin is occasionally affected. Symptoms may include muscle pain or paralysi…