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Showing posts from August, 2014

Current Research Studies Part 2 of 2

Current Research Studies Part 2 of 2 Below you will find a list of current studies with short summaries. Please consider being a part of a study. The research is a key to your cure!
7204: Clinical Diagnosis of Acute Porphyria We will enroll individuals who are first-degree relatives (child, sibling, parent, or grandparent) of a patient with a diagnosis of one of the acute porphyrias (index case). We are interested in all three types of acute porphyria in which the index case has been confirmed by genetic testing: Acute Intermittent Porphyria (AIP), Hereditary Corproporphyria (HCP) or Variegate Porphyria (VP). Participants (the first-degree relatives) must not have had any genetic testing as yet. They will have an initial visit during which they will complete a history questionnaire and have routine laboratory tests, including genetic testing for porphyria. The researchers will use this data to develop a Clinical Profile of the risk factors associated with being a genetic carrier of acute…

22 Things Happy People Do Differently. Are you a happy person despite Porphyria disease?

22 Things Happy People Do Differently Disclaimer: This article is not intended to address those with clinical depression or other mental illnesses.  Please always seek the advice of your Doctors before starting or making any lifestyle changes.

There are two types of people in the world: those who choose to be happy, and those who choose to be unhappy. Contrary to popular belief, happiness doesn’t come from fame, fortune, other people, or material possessions. Rather, it comes from within. The richest person in the world could be miserable while a person living in the slums of a third world country could be happy and content. I have spent plenty of time amongst both groups to have seen it first hand. Happy people are happy because they make themselves happy. They maintain a positive outlook on life and remain at peace with themselves. The question is: how do they do that? It’s quite simple. Happy people have good habits that enhance their lives. They do things differently. Ask any happy pe…

SLEEP What is it and how does it affect us and Porphyria

Sleep—Luxury or Necessity?

TO SOME PEOPLE, sleep is a waste of time. Preferring a very busy daily schedule of business and social engagements, they only surrender to sleep when extremely tired. In contrast, others, enduring night after night of tossing and turning until the early hours of the morning, would give anything for a good night’s sleep.
Why do some find it so hard to sleep, while others are desperate to stay awake? Should we view sleep as a luxury or a necessity? To answer these questions, we need to understand what is going on while we are asleep.
The Mysteries of Falling Asleep
Exactly what makes a person lose consciousness and fall asleep remains a mystery. Researchers, however, have established that sleep is a complex process regulated by the brain and that it obeys a 24-hour biological clock.
As we get older, our sleeping habits change. A newborn sleeps for frequent short periods that total about 18 hours a day. According to sleep specialists, although some adults appear to …

Current Research Studies Part 1 of 2

Current Research Studies Part 1 of 2 Below you will find a list of current studies with short summaries. Our next E-news will cover the second portion of the ongoing studies. 7201: Longitudinal Study of the Porphyrias           This study is conducting research for all types of porphyria. Participation in this project will include: Participating in annual visits or contacts.Providing samples, including blood, buccal cells (cells from inside of the mouth), saliva, urine and a skin biopsy. The type of samples and amounts may vary from person to person, depending on the type of porphria.Giving permission for samples to be stored and used for porphyrias research.Granting permission to obtain your medical records.Interview to provide information about your medical history and family history.Completing a questionnaire about your porphyria.
7203: A double-blind, randomized, placebo-controlled, parallel group trial on the efficacy and safety of Panhematin in the treatment of acute attacks of porph…

When It Comes to Your Health, Speak Up!

The importance of communicating with your healthcare team
Living with a Porphyria condition means that you may see your doctor a lot. You likely have regular checkups to keep track of your health. There also may be times when you have concerns or questions about the way you are feeling. Whatever the reason for seeing your doctor, it is important that you feel comfortable talking freely with him or her about your condition.
In today’s busy healthcare environment, the time you have with your doctor may be brief. But it can—and should—still be meaningful.
You may have questions. You deserve answers.
 You also need to be able to express what you’re feeling or thinking about your condition. It is something you are living with every day.
 Being prepared before you go in to see your doctor can help ensure that you address everything you want to. And the more information you have about your condition, the better prepared you will be to manage it properly. 
So please take a few minutes to turn to po…

A Genetic Legacy Part 1

A Genetic Legacy by Lauren Stancheck

Remember....Research is the key to your cure!" Part 1
When a Dutch orphan, Ariaantje Adriaanse, set sail for South Africa in 1688, chances are she offered more than her hand in marriage.
Now, more than 300 years and thousands of descendants later, scientists have uncovered her likely genetic legacy — a disease that has spread exponentially throughout the South African population.Scientists Peter Meissner at the University of Cape Town and Harry Dailey at the University of Georgia have identified the gene mutation that causes variegate porphryia.
Ariaantje Adriaanse, the Dutch orphan who likely carried the porphyria gene to South Africa, journeyed for four months from the Netherlands to Table Bay aboard the China — a ship similar to the one depicted here from the same period. In this painting, the Griffioen, a type of ship called an eastindiaman, docks at the foot of Table Mountain, off Cape of Good Hope. Pen painting by Cornelius Pietersz. de Mooij …

Acute Porphyria Patients Are Needed For A Clinical Trial

Acute Porphyria Patients Are Needed For A Clinical TrialUniversity of Texas Medical Branch in Galveston, TX is recruiting patients with acute porphyria attacks. During the trial, both glucose and hemin given by an infusion through the veins and are considered standard treatments for attacks of porphyria. Hemin has been on the market since 1983, and based on experience over the past 30+ years is believed to be the most effective treatment. But a good study to prove that it is effective has not been done, and this has impaired its acceptance by doctors and its availability to patients. This study is designed to provide the needed evidence that has not been available before.
The research questions are: To evaluate the effectiveness of glucose and Panhematin, compared to glucose alone treatment for acute attacks of porphyriaTo evaluate the safety of glucose and Panhematin, compared to glucose alone for acute attacks of porphyria.This is a clinical trial, which means its purpose is to study …


Happy Friday everyone! Forget all the bad things you've encountered this week and have a great weekend.

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

Rare Patient Advocacy Summit

3rd Annual RARE Patient Advocacy Summit
September 11-12, 2014 Hyatt Regency Resort & Spa, Huntington Beach, California
In-Person RegistrationLivestream Webcast Registration

Over 200 participants will join in-person, and over 5,000 via Livestream webcast during the Global Gene’s 2014 RARE Patient Advocacy Summit, September 11-12, at the Hyatt Regency Resort & Spa in beautiful Huntington Beach, CA. Highlights from our agenda

Innovations in Science
One of the most exciting things about being a patient advocate is having the opportunity to see behind the scenes in science. All over the world, small labs with big ideas are breaking down barriers between patients and treatments.

You’ll have a front row seat to the presentations of four ground-breaking research platforms that are about to change the way we create solutions for rare disease on a global level. These twenty-minute science briefs promise to show new approaches to research and drug development. In each segment, there will be five…

Life! Smile! Live!

I thought this was something to share with you.  Life and daily living can be hard so what do we need?  
Love, support, understanding, energy and a desire to live the best we can.  Are you doing your best?  Do you need help?  Let these words have meaning in your search for having a good, day, week month, year and a life..........

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

Enjoying The Day My Way!

Enjoying The Day My Way!
Enjoying The Day My Way!
I love the Dawn of each day,  even though I know the rays of the Sun are on their way. The Rays of the Sun are yet to arrive,  and so this is my time to feel alive! To enjoy the Day the best I can is all I can do,  I can't live in the Sun like you! My skin is never exposed. Yes I have to wear a lot of clothes. Yes I receive strange looks and glares. To enjoy life is my only care! I could be sad, or even mad. To love life is a better way. Because I live life my Way!  Rob Saupe'  © 2011

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