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Showing posts from February, 2014

APF- RARE DISEASE DAY

Caretaker Support Forum Please join we need your support

Caretaker Support Forum

New APF Caretaker Support Forum
Warren Hudson, who serves on the APF Board of Directors, has agreed to head our Caretaker Support Forumfor spouses or partners who help their loved one cope with porphyria. To read more about Warrens story as a caretaker for a loved one with AIP click here.
The Caregiver Support Group strives to provide a forum to ask questions, share advice, experiences and provide a sounding board for those going through similar circumstances.
Our goal is to eventually provide multiple resources to assist caregivers in their day-to-day lives. This is your community and your input will help shape this service. Whether you are a spouse, partner, relative or friend of a porphyria patient, we want to hear from you. Contact the American Porphyria Foundation or email us at apfcaregiver@aol.com for more information.
We respectfully request that only caregivers of patients in the active process of diagnosis or with a diagnosis of a porphyria participate i…

Did You Know? PCT

Did You Know?

Porphyria cutanea tarda can be inherited as a dominant trait or acquired due to liver disease. Sun exposed areas develop blistering (vesicles and bullae), erosions and ulcerations, fragile skin, pigmentary changes, and scarring.

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

*******RARE DISEASE DAY 2-28-2014*******

Rare Disease Day 2014

Rare Disease Day is an observance held on the last day of February to raise awareness for rare diseases and improve access to treatment and medical representation for individuals with rare diseases and their families. The awareness-raising event coordinated by EURORDIS at the international level and by National Alliances and Patient Organizations at the national level.
"The main objective of Rare Disease Day is to raise awareness amongst the general public and decision-makers about rare diseases and their impact on patients' lives.
The campaign targets primarily the general public but it is also designed for patients and patient representatives, as well as politicians, public authorities, policy-makers, industry representatives, researchers, health professionals and anyone who has a genuine interest in rare diseases.
Since Rare Disease Day was first launched by EURORDIS and its Council of National Alliances in 2008, more than 1000 events have taken place thr…

Baby Rebekah Jones and EPP

Rebekah Jones Type of Porphyria:  Erythropoietic Protoporphyria (EPP)My daughter Rebekah has Erythropoietic Protoporphyria. We live in the Grand Rapids, MI area. Rebekah was about 13 months old when she first started having symptoms. We were staying at a summer cottage on Lake Michigan. I put sunscreen on her and we went outside to play in the sand and swim. Late that afternoon she got real fussy, and by evening she was screaming and crying. We thought she was overly tired and gave her some Motrin, but she didn't sleep at all that night. In the morning, Rebekah's face and hands were swollen and red. We could not make out the bridge of her nose because of the swelling and she couldn't open her eyes or move her fingers. I called Rebekah's pediatrician and he wanted to see her right away. At first, her doctor thought she was having a reaction to the sunscreen I had used, so we tried another kind and went back to the beach! Again, Rebekah started screaming and crying, and…

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…

"If it isn't Porphyria, What is it?"

"If it isn't Porphyria, What is it?"

This is a question we hear almost every day at the APF.  Many people who think they have Porphyria, find out that they have been misdiagnosed, particularly when they were diagnosed with acute porphyrias using porphyrins for screening instead of PBG or ALA as indicated.  Therefore the APF is part of a committee which helps address the needs of this group of un-diagnosed people.  Recently, the NIH program for the un-diagnosed held a webinar to give guidance to this group of un-diagnosed patients.  Read about this program: http://www.genome.gov/27544402 and enroll to have your condition diagnosed by a group of trained clinicians.

Also if you are currently un-diagnosed with one of the Porphyrias but have a relative that has a diagnose we have a study that you may be qualify for please email me Amy.apf@gmail.com with your Name, Phone Number.  I will call you back ask a few questions to see how we can help you.


"Remember....Research is th…

Research Studies- Can you Participate!

Research StudiesBelow are some wonderful questions about volunteering to research studies, if your interested please email me at Amy.apf@gmail.com, look below to see all the studies that are happening now and future. How do I learn more about current open studies?
Below you will find a list of current studies. Clicking on the link will take you to the study summary, which will provide you with all the important details for each study
How do I participate in a study?
Each study summary provides a list of hospitals or clinics where the study is being run. Using the contact information provided, you may contact any of these facilities in order to request participation in information about participating in a study.
To view all the studies going on please visit:  http://rarediseasesnetwork.epi.usf.edu/
The Rare Diseases Clinical Research Network will make every effort to enroll all the patients we can, but we cannot make any guarantees that we will be able to enroll everyone in a particula…

Nutrition in non-acute Porphyria

Nutrition in non-acute PorphyriaA balanced diet that provides all essential nutrients is important for everyone. Otherwise, only a few specific dietary recommendations are justified for types of porphyria other than the acute Porphyrias.ALAD porphyria (Porphyria due to a deficiency of 8-aminolevulinic acid dehydratase). Effects of diet on this extremely rare condition have not been reported. However, because it bears some resemblance to the acute porphyrias, at least some of the same nutritional considerations may apply.Congenital Erythropoeitic Porphyria. Diet does not appear to play a specific role in this rare condition. The excess porphyrins in this rare condition originate from the bone marrow. The heme biosynthetic pathway in the bone marrow seems to be much less sensitive than in the liver to changes in carbohydrate and energy intakes. Because patients with this condition may be severely ill, however, their diets may be inadequate. Such nutritional deficiencies should be preve…

Back by Popular Demand and a follow up to Yesterdays post. Nutrition in the acute porphyrias

Back by Popular Demand and a follow up to Yesterdays post.
Nutrition in the acute porphyriasThe following are general recommendations that may not apply to all patients with acute Porphyria. Individual nutritional needs vary and are affected by the nature and severity of a disease. Therefore, a physician should be consulted and the advice of a dietitian sought before implementing dietary recommendations for a complex medical condition such as Porphyria. Other recommendations may need to be added or substituted to meet the needs of an individual patient. These general nutritional recommendations for acute porphyrias are very similar to those for diabetes mellitus. Therefore, physicians and dietitians may find that dietary instructions given for a patient with acute Porphyria are not very different from that given for a disease they encounter much more frequently than Porphyria. Nutritional recommendations for Acute Intermittent PorphyriaHereditary Coproporphyriaand Variegate Porphyri…

Eating Behavior and Porphyria

Eating behavior and PorphyriaSometimes patients with acute porphyria have symptoms such as profound weight loss, recurrent vomiting, and eating attitudes that suggest "eating disorders" such as anorexia nervosa or bulimia. Usually these symptoms are due to porphyria itself and do not represent a primary eating disorder. However, mild forms of eating disorders are common, especially in young women, and are difficult to recognize. Mild forms of eating disorders may have few consequences in healthy individuals. However, the effects can be profound when combined with a medical condition that is sensitive to changes in diet. For this reason, the study of eating behaviors has become important in a number of diseases such as diabetes, cystic fibrosis and inflammatory diseases of the intestine. There have been few studies so far in porphyria.Eating behavior is assessed not only by determining the dietary intake of a subject, but also by assessing eating attitudes and habits. This i…

Alicia Moczynski Read about her amazing journey with XLP

Alicia Moczynski
My name is Alicia Moczynski and I’m 22 years old.  I had my first porphyria episode at age 2.  However, as a child, my episodes were infrequent and mild.  It wasn’t until I turned about 16 that I started getting frequent episodes that got worse and worse over time.  No one in my family has porphyria, and the doctors could never diagnose me.  I just accepted the fact that I would never find out what is wrong with me.Then when I turned 21 (May 2012), I had the worst episode ever.  Not only were my face, hands, arms, and legs swollen, my stomach was also in a lot of pain, and I had jaundice.  I went to the emergency room and received a misdiagnosis of Hepatitis A.  The doctor said, Hepatitis A heals on its own, and I should just give it time.  However, I never truly recovered and was bed ridden for about 3 months. Unfortunately, during December 2012, I got very sick again with the same symptoms…severe stomach pain and jaundice.  I was admitted to the University of Alabam…

Welcome all new members to the American Porphyria Foundation Face Book Sites were so happy to have you join with us. Here are some brief facts about Porphyria.

Welcome all new members to the American Porphyria Foundation Face Book Sites were so happy to have you join with us.  Here are some brief facts about Porphyria. 
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 ofporphyrins 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 darken after exposure to light.The symptoms and treatment vary significantly from one type of Porphyria to the next.Porphyria symptoms arise mostly from effects on either the nervous system or the skin. Effects on th…

New Find A Doctor Feature!

We are excited to announce the New  feature located on the left side of the APF Website for your convenience.The APF maintains a list of over 2000 physicians, who are either experts or are educated about porphyria to varying degrees.  The list has been created to assist porphyria patients in locating physicians in their area.  Please note that the list is updated frequently, so check it often or contact the APF for additional physicians.   To use the list, first locate a city nearest you.   For the doctor's name and contact information in your area, call the APF: 1.866.APF.3635.
"Remember....Research is the key to your cure!"

Additional Resource links to the Apf Website:·News
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