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Showing posts from December, 2013

New exciting Information on Porphyria & how you can help!

Join the Registry
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 …

Liver Foundation Facts

This is from the Liver Foundation Fact: 

Liver Fact: The liver is a storage site for a variety of substances. It houses supplies of glycogen as well as numerous vitamins like A, D, K, and B12- to be used months and sometimes years later!

LIVER FACTS The liver is the largest solid organ in our body. It’s about 8 inches (20 cm) wide, 6.5 inches (17 cm) long and 4.5 inches (12 cm) thick and weighs approximately 3.5 pounds (1.6 kilograms). You’ll find your liver mostly under your ribs in the upper right part of your abdomen, just below your diaphragm. The liver has two large lobes; a large right lobe and a smaller left lobe.  The liver has various functions: It makes and secretes bile to help your body absorb fats and fat-soluble vitamins (A, D, E and K)It metabolizes and stores carbohydrates, fats, sugars, vitamins (and other nutrients obtained from the foods we eat) for energy and brain function.It breaks down harmful chemicals (bilirubin and ammonia) produced by the body and keeps the bod…

Happy & Healthy New Year to You!

Merry Christmas, Happy Holidays,
Happy, Healthy New Year!

May you be blessed with happiness, good health, love and the delight of being with family and  friends this wonderful Christmas and Holiday Season.
The opportunity to serve you and your family during this past year has been a gratifying experience for us.
Our staff and support volunteers look forward to meeting and assisting you throughout the upcoming Year.

We wish You All a Happy, Healthy New Year!

God Bless YOU!

Yvette, Elizabeth, Susan, Carol, Warren, Desiree  and
Facebook Team: Rob, Amy C, Amy B, Victor, Ben, Pierre

Rare Connect

RareConnect wishes you happy holidays.View this email in your browser Wishing you warm holiday greetings from the team at RareConnect
Thanks for being a member of

Connecting Rare Disease Patients Globally

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

A Story from Jennifer Wood and her journey with EPP

Jennifer Wood
Type of Porphyria:  Erythropoietic Protoporphyria (EPP)
All my life I have been an indoor kind of girl. I really didn't think I had much of a choice. Every time I went outside, I was in excrutiating pain. Before I was even old enough to know better, I would stay indoors. When I was about 18 months old, my mom took me to the beach near where we lived in Florida. Within a half hour, I started screaming. Nothing could be physically seen wrong with me until the swelling started. Then I turned purple, so when the doctors saw me, they said I had been stung by a jelly fish. It seemed logical to my parents. Months later the same thing happened and the doctors said it must have been caused by decomposed jelly fish, or maybe even an allergic reaction to the sunscreen. Each time it ended the same; me swollen and purple and the doctors not knowing the cause. As I got older, I learned to adapt by wearing certain clothing and staying out of the sun. If I was forced to go outside …

AIP: An Educational Webcast For ED Providers

In this webcast, Eric Gross, MD, describes the gastrointestinal, neurological, cardiovascular, and urologic symptoms of AIP. He explains the precipitating factors that may lead to an AIP attack and also outlines the diagnostic pathway and the commonly used tests to screen for AIP.
Dr. Gross is a faculty physician in the Department of Emergency Medicine at Hennepin County Medical Center, Minneapolis, Minnesota. He is also a professor of emergency medicine at the University of Minnesota Medical School.

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


Welcome all NEW MEMBERS!   
Were so glad to have you here. Who ever signs up to the Purple Light Blog and is the 100th person will receive a gift from the APF. So what are you waiting for who's going to win? 
Here's the link:
"Remember.....Research is the key to your cure!"

Suffer from Chronic Pain watch this EMC course on Discovery Channel

100 million American adults live with chronic pain. That's more than cancer, diabetes and heart disease combined. According to the Institute of Medicine, the high prevalence of chronic pain suggests that the condition is not being adequately managed. Undertreatment of chronic pain creates large costs to the healthcare system and the U.S. economy; we spend more than $560 billion in the U.S. each year on chronic pain-related healthcare costs. Moreover, chronic pain can carry significant physical and emotional burdens. The Institute of Medicine has called for a better understanding of the impact of pain in an effort to reduce its toll on the people who suffer from it including the impact on their economic, physical and emotional wellbeing. Pain Matters seeks to do just that. The documentary explores what chronic pain is, its individual and societal impact, and the future of pain management through the stories and struggles of six individuals living with chronic pain and their loved o…

Research Studies Available

Research Studies Available!
Dear APF Members, The Porphyrias Consortium is pleased to let you know that they are enrolling patients in studies for the following diseases. To read more about each study, including eligibility criteria and who to contact, please follow the links below: A confirmed diagnosis of a porphyria or have a relative who has been diagnosed with a porphyria Longitudinal Study of the Porphyrias
Acute Intermittent, Porphyria Hereditary Coproporphyria, or Variegate Porphyria Clinical Diagnosis of Acute Porphyria
Erythropoietic Protoporphyria (EPP) Mitoferrin-1 Expression in Erythropoietic Protoporphyria Measuring the Effects of Isoniazid Treatment on Erythrocyte and Plasma Protoporphyrin IX Concentration in Patients with Erythropoietic Protoporphyria Erythropoietic Protoporphyrias: Studies of the Natural History, Genotype-Phenotype C orrelations, and Psychosocial Impact)
Porphyria cutanea tarda (PCT) Hydroxychloroquine vs. phlebotomy for porphyria cutanea tarda
***** If you have no…

SUPPORT Rock n Roll Race for EPP!

goal $20
raised so far 1 % to goal AMERICAN PORPHYRIA FOUNDATIONNew Orleans Marathon~Rock 'n' Roll Race Day For EPP Disease!2/2/2014
Training buddies: Polly Barton Harvard Family & Friends

Shining a Light on the Damage Daily Sun Exposure can cause

Shining a Light on the Damage That Daily Sun Exposure Can Cause: Study Highlights Need for Better Sunscreens
Published: December 5, 2013. By University of Michigan Health System 
Go to mobile page.
ANN ARBOR, Mich. — A low level of daily exposure to a common component of sunlight can cause skin damage at the molecular level after just a few days, new University of Michigan Medical School research shows.
The findings highlight the need for better sunscreens to protect against these damaging rays, and prevent the process that can cause skin to look old, wrinkled and sagging prematurely.
In a new paper published online in JAMA Dermatology, the researchers show that damage starts after just two daily exposures to a low amount of ultraviolet A1, or UVA1, light – which makes up most of the UV light we are exposed to throughout the day, and tanning bed light too. Very few of the ingredients in sunscreen products effectively protect against UVA1. The damaging process kep…

Global Genes Day

"Remember.....Research is the key to your cure!"
Global Genes | RARE Project and a host of partners are proud to continue our RARE Webinar Series, a series of educational webcasts this year on relevant and timely topics that should be of interest to the RARE community.
World Rare Disease Day Planning 2014
 Ideas and Suggestions to Host Your Own
World Rare Disease Day Event
December 11, 2013
11:00 am Pacific Time
Register today- space is limited!
With World Rare Disease Day right around the corner (February 28th, 2014), this session will explore event ideas to create awareness for your specific rare disease as well as the entire rare disease community as a whole.

I would encourage you to register and join the discussion.  I would also ask that you send this email along to your community and rare friends that might also be interested in the topic.

Thank you,

Carrie Ostrea
Advocacy Director / Parent Advocate
"Remember.....Research is the key to your cure…

Medical Chaos for Tonya Carpenter- Love

Tonya Carpenter-Love Type of Porphyria:  Acute Intermittent Porphyria (AIP) Medical Chaos In 1984 I was hit by a car, and after more than 22 surgeries, nothing has ever been the same. In 1986, I started having problems with ringing in my ears, extreme hearing fluctuation and visual distortions. The symptoms led to a diagnosis of Meniere’s disease in my right ear in 1986. In 1990 I was diagnosed with Autoimmune Disease, which supposedly had caused the loss of hearing in my left ear. At that time my doctor tried, without success, to treat me with chemotherapy. There was a break in the treatment long enough for me to give birth to my son. I stayed miserably sick during the four long years between chemo and pregnancy. I was finally taken off the chemo treatment after it had eaten my bladder lining. My appendix was removed unnecessarily while visiting an ER for extreme stomach pain. Actually, I have been to more ER’s with abdominal pain than I can count, but other than the time my appendix…

Dr. Herbert Bonkovsky speaks about the the Liver & Supplements

Charlotte researcher says body-building, fat-burning supplements can cause liver damage By Karen Garloch Posted: Monday, Dec. 02, 2013

- Carolinas HealthCare System Dr. Herbert Bonkovsky, director of the Liver, Digestive and Metabolic Laboratory at Carolinas Medical Center. Consuming herbal and dietary supplements for body building or weight loss can lead to serious and sometimes irreversible liver disease or even death, according to a recent study co-authored by a Carolinas Medical Center researcher. Dr. Herbert Bonkovsky, director of the Liver, Digestive and Metabolic Laboratory at CMC, said people should be careful about taking supplements, which are not regulated as strictly as drugs by the federal Food and Drug Administration. “There needs to be tighter scrutiny and oversight concerning the distribution of these supplements so that consumers understand the dangers associated with them,” Bonkovsky said. Bonkovsky and his colleagues presented their res…