Friday, August 29, 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 porphyria.

7205: Measuring the Effects of Isoniazid Treatment on Erythrocyte and Plasma Protoporphyrin IX Concentration in Patients with Erythropoietic Protoporphyria
This is an interventional study (study in which investigators give research subjects a particular medicine (in this case isoniazid) to measure how the subjects' health changes while using the medicine). To participate, all participants must also be enrolled in the Longitudinal Study of the Porphyrias and be willing to share their medical records with researchers. In the initial visit, participants will have a general physical exam and blood drawn for lab work. Participants will also be prescribed a dose of 300 mg of Isoniazid that they will need to take daily. Participants will need to have a follow up visit every two weeks for twelve weeks. Each follow up visit will include a blood test to see how the Isoniazid is working.

7206: Hydroxychloroquine vs. phlebotomy for porphyria cutanea tarda
This study compares two treatments for PCT. The initial treatment phase may take up to 6 months. During this phase subjects are followed every 2 weeks. After the treatment phase subjects will be followed at least 3 years.
Study patients will be characterized in terms of known risk factors for PCT, including drinking alcohol, smoking, hepatitis C, HIV infection, estrogen use, and genetic characteristics.
Blood plasma and urine porphyrin concentrations will be measured at 2-week intervals for up to 6 months. After that participants will be followed every 2 months for the first year and every 6 months for the second year. There will be one final follow-up visit in the third year.

7207: Erythropoietic Protoporphyrias: Studies of the Natural History, Genotype-Phenotype Correlations, and Psychosocial Impact)
This is a longitudinal study (study taking place over a long period of time) of about 150 individuals with EPP. Participants enrolled in this study should also be enrolled in the "Longitudinal Study of the Porphyrias" Those participating in this study will be evaluated yearly. Follow up visits can be conducted with the participant's local physicians.
Please contact the APF for more information or to get enrolled in the studies 713.266.9617.

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

Wednesday, August 27, 2014

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 person, and they will tell you that they …
1. Don’t hold grudges.
Happy people understand that it’s better to forgive and forget than to let their negative feelings crowd out their positive feelings. Holding a grudge has a lot of detrimental effects on your wellbeing, including increased depression, anxiety, and stress. Why let anyone who has wronged you have power over you? If you let go of all your grudges, you’ll gain a clear conscience and enough energy to enjoy the good things in life.
2. Treat everyone with kindness.
Did you know that it has been scientifically proven that being kind makes you happier? Every time you perform a selfless act, your brain produces serotonin, a hormone that eases tension and lifts your spirits. Not only that, but treating people with love, dignity, and respect also allows you to build stronger relationships.
3. See problems as challenges.
The word “problem” is never part of a happy person’s vocabulary. A problem is viewed as a drawback, a struggle, or an unstable situation while a challenge is viewed as something positive like an opportunity, a task, or a dare. Whenever you face an obstacle, try looking at it as a challenge.
4. Express gratitude for what they already have.
There’s a popular saying that goes something like this: “The happiest people don’t have the best of everything; they just make the best of everything they have.” You will have a deeper sense of contentment if you count your blessings instead of yearning for what you don’t have.
5. Dream big.
People who get into the habit of dreaming big are more likely to accomplish their goals than those who don’t. If you dare to dream big, your mind will put itself in a focused and positive state.
6. Don’t sweat the small stuff.
Happy people ask themselves, “Will this problem matter a year from now?” They understand that life’s too short to get worked up over trivial situations. Letting things roll off your back will definitely put you at ease to enjoy the more important things in life.
7. Speak well of others.
Being nice feels better than being mean. As fun as gossiping is, it usually leaves you feeling guilty and resentful. Saying nice things about other people encourages you to think positive, non-judgmental thoughts.
8. Never make excuses.
Benjamin Franklin once said, “He that is good for making excuses is seldom good for anything else.” Happy people don’t make excuses or blame others for their own failures in life. Instead, they own up to their mistakes and, by doing so, they proactively try to change for the better.
9. Get absorbed into the present.
Happy people don’t dwell on the past or worry about the future. They savor the present. They let themselves get immersed in whatever they’re doing at the moment. Stop and smell the roses.
10. Wake up at the same time every morning.
Have you noticed that a lot of successful people tend to be early risers? Waking up at the same time every morning stabilizes your circadian rhythm, increases productivity, and puts you in a calm and centered state.
11. Avoid social comparison.
Everyone works at his own pace, so why compare yourself to others? If you think you’re better than someone else, you gain an unhealthy sense of superiority. If you think someone else is better than you, you end up feeling bad about yourself. You’ll be happier if you focus on your own progress and praise others on theirs.
12. Choose friends wisely.
Misery loves company. That’s why it’s important to surround yourself with optimistic people who will encourage you to achieve your goals. The more positive energy you have around you, the better you will feel about yourself.
13. Never seek approval from others.
Happy people don’t care what others think of them. They follow their own hearts without letting naysayers discourage them. They understand that it’s impossible to please everyone. Listen to what people have to say, but never seek anyone’s approval but your own.
14. Take the time to listen.
Talk less; listen more. Listening keeps your mind open to others’ wisdoms and outlooks on the world. The more intensely you listen, the quieter your mind gets, and the more content you feel.
15. Nurture social relationships.
A lonely person is a miserable person. Happy people understand how important it is to have strong, healthy relationships. Always take the time to see and talk to your family, friends, or significant other.
16. Meditate.
Meditating silences your mind and helps you find inner peace. You don’t have to be a zen master to pull it off. Happy people know how to silence their minds anywhere and anytime they need to calm their nerves.
17. Eat well.
Junk food makes you sluggish, and it’s difficult to be happy when you’re in that kind of state. Everything you eat directly affects your body’s ability to produce hormones, which will dictate your moods, energy, and mental focus. Be sure to eat foods that will keep your mind and body in good shape.
18. Exercise.
Studies have shown that exercise raises happiness levels just as much as Zoloft does. Exercising also boosts your self-esteem and gives you a higher sense of self-accomplishment.
19. Live minimally.
Happy people rarely keep clutter around the house because they know that extra belongings weigh them down and make them feel overwhelmed and stressed out. Some studies have concluded that Europeans are a lot happier than Americans are, which is interesting because they live in smaller homes, drive simpler cars, and own fewer items.
20. Tell the truth.
Lying stresses you out, corrodes your self-esteem, and makes you unlikeable. The truth will set you free. Being honest improves your mental health and builds others’ trust in you. Always be truthful, and never apologize for it.
21. Establish personal control.
Happy people have the ability to choose their own destinies. They don’t let others tell them how they should live their lives. Being in complete control of one’s own life brings positive feelings and a great sense of self-worth.
22. Accept what cannot be changed.
Once you accept the fact that life is not fair, you’ll be more at peace with yourself. Instead of obsessing over how unfair life is, just focus on what you can control and change it for the better.

So what are you going to work on, please share your comments and views below. 

All of these avenues contribute to your health and wellbeing and play and major part in controlling your Porphyria and other health conditions so why not start today?

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

Friday, August 22, 2014

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 need only three hours of sleep a day, others need up to ten hours.

Recent research has shown that variations in our biological clock also explain why some teenagers struggle to get out of bed in the morning. The biological clock seems to shift forward during puberty, making youngsters want to go to sleep later and wake up later. This sleep delay is common and tends to disappear in the mid-to-late teens.
Our biological clock is regulated by chemical substances, many of which have already been identified. One of them is melatonin, a hormone thought to trigger sleepiness. Melatonin is produced in the brain, and some scientists believe that it is responsible for the slowdown of the body’s metabolism that occurs prior to falling asleep. As melatonin is released, body temperature and blood flow to the brain are reduced, and our muscles gradually lose their tone and become flaccid. What happens next as the person descends into the mysterious world of sleep?
‘Nature’s Chief Nourisher’
Approximately two hours after we fall asleep, our eyes begin to quiver quickly back and forth. The observation of this phenomenon led scientists to divide sleep into two basic phases: REM (rapid eye movement) sleep and non-REM sleep. Non-REM sleep can be subdivided into four stages of progressively deeper sleep. During a healthy night’s sleep, REM sleep occurs several times, alternating with non-REM sleep.
Most dreaming occurs during REM sleep. The body also experiences maximum muscle relaxation, which allows the sleeper to wake up feeling physically refreshed. In addition, some researchers believe that newly acquired information is consolidated as part of our long-term memory during this sleep stage.
During deep sleep (non-REM sleep stages 3 and 4), our blood pressure and heart rate reach lower ranges, providing rest for the ...

... circulatory system and helping to ward off cardiovascular disease. In addition, the production of growth hormone peaks during non-REM sleep, with some teenagers producing as much as 50 times more growth hormone at night than during the day.
Sleep also seems to affect our appetite. Scientists have discovered that sleep really is, to quote Shakespeare, “chief nourisher in life’s feast.” Our brain interprets a lack of sleep as a lack of food. While we sleep, our organism secretes leptin, the hormone that normally lets our body know that we have eaten enough. When we stay awake longer than we should, our body produces less leptin, and we feel a craving for more carbohydrates. So sleep deprivation can lead to increased carbohydrate consumption, which in turn can lead to obesity.—See the box “An Afternoon Nap,” on page 6.
Page 6
Vital for Health
But that is not all. Sleep makes it easier for our body to metabolize free radicals—molecules that are said to affect the aging of cells and even cause cancer. In a recent study carried out by the University of Chicago, 11 healthy young men were allowed only four hours of sleep a day for six days. At the end of this period, their body cells were performing like those of 60-year-olds, and their blood insulin level was comparable with that of a diabetes sufferer! Sleep deprivation even affects the production of white blood cells and the hormone cortisol, making a person more prone to infections and circulatory diseases.
Without a doubt, sleep is vital for a healthy body and mind. In the opinion of researcher William Dement, founder of the first sleep study center, at Stanford University, U.S.A., “sleep seems to be the most important indicator of how long you’ll live.” Deborah Suchecki, researcher at a sleep study center in São Paulo, Brazil, comments: “If people knew what is going on in a sleep-deprived body, they would think twice about concluding that sleep is a waste of time or just for the lazy.”—See the box above.
But is all sleep restorative? Why do some people sleep the whole night and still feel unrefreshed? The next article will help you identify some of the principal sleep disorders and will explain how you can get quality sleep.

 Sudden mood swings
 Loss of short-term memory
 Loss of capacity to create, plan, and carry out activities
 Loss of concentration
 Premature aging
 Increased risk of infections, diabetes, cardiovascular diseases, and gastrointestinal disease
 Chronic memory loss

Have you ever felt an uncontrollable drowsiness after lunch? This is not necessarily a sign that you are suffering from sleep deprivation. It is normal to feel sleepy in the early afternoon because of a natural drop in body temperature. In addition, scientists have recently discovered a protein called hypocretin, or orexin, that is produced in the brain and helps keep us awake. What is the connection between hypocretin and food?
When we eat, the body produces leptin to give us the impression that we are full. But leptin inhibits the production of hypocretin. In other words, the more leptin there is in the brain, the less hypocretin and the greater the feeling of drowsiness. Perhaps that is why in some countries people take a siesta—a break in the workday that allows people to sleep a little after lunch.

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

Wednesday, August 20, 2014

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 porphyria           
This study is conducting research for the following diseases:
Acute intermittent porphyria (AIP)
Hereditary coproporphyria (HCP)
Variegate porphyria (VP)
The research questions are:
  • To evaluate the effectiveness of glucose and Panhematin compared to glucose alone treatment for acute attacks of porphyria
  • To evaluate the safety of glucose and Panhematin, compared to glucose alone for acute attacks of porphyria. To be eligible for the research you will have to have frequent and predictable attacks.

7202: Mitoferrin-1 Expression in Erythropoietic Protoporphyria     
This study is conducting research for the Erythropoietic Protoporphyria (EPP).
This study will identify the characteristics of erythropoietic protoporphyria (EPP) in the blood. People with EPP have skin sensitivity to sunlight and occasionally develop liver disease. In this study, we hope to learn the nature of the characteristics of  EPP in the blood because this may help explain the seriousness of the clinical features.
Please contact the APF for more information or to get enrolled in the studies 713.266.9617.

Upgraded Patient Packet
We also are working on upgrading patient packet. The new edition will include:
  • Overview of all porphyrias
  • Panhematin brochure
  • APF Newsletter
  • The APF membership information
  • Letter from Desiree Lyon Howe to patients
  • How to become an APF Member
  • The list of all ongoing studies

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

Thursday, August 14, 2014

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 to learn about each type of Porphyria, What it is, symptoms, diet and lifestyle, testing, medications and daily living.  I encourage you to print copies, write your questions ahead of time, be in charge of the Doctor visit!

For additional information for research projects and help please contact Natalia or Desiree Lyons 1-866-APF-3635

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

Wednesday, August 13, 2014

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 (?-1676).
In the 1950s a British doctor noticed South Africa’s high incidence of a disease called variegate porphyria (poor-FEAR-ee-ah). Using family Bibles to trace lineages, he discovered its genetic nature. Since then scientists have found that variegate porphyria is the second most common inherited disease in South Africa.
Several kinds of porphyria have been found in humans, each with its own telltale combination of symptoms. For example, patients with variegate porphyria experience light sensitivity, easily broken skin, and occasional and unpredictable acute attacks involving intense abdominal pain. Various medications, chemicals and even sunlight can trigger these attacks.
Scientists like Peter Meissner at the University of Cape Town (UCT) study the disease and its symptoms to better understand how it affects the South African population. Researchers have learned that heme, the iron-rich molecule that transfers oxygen from the blood to cells, plays a key role in the disease.
Half a world away, Harry Dailey, a UGA professor of microbiology, biochemistry, and molecular biology and director of UGA’s new Biomedical and Health Sciences Institute, is studying the body’s assembly line-like production of heme.
Dailey drew the South Africans’ attention with his research on PPO — which stands for protoporphyrinogen oxidase — one of the enzymes required to make heme. A defect in PPO is the key element in the onset of porphyria.
Producing heme requires eight different enzymes. When any one of these enzymes malfunctions, heme precursors, called porphyrins, build up in the blood. This increase in porphyrins results in porphyria.
The human body makes the heme molecules it needs like an assembly line — enzymes add each piece sequentially to create the finished product.
“So anything that affects one part of the assembly line will have an impact on the other part of the assembly line,” Dailey said.
Science has yet to understand how the overproduction of porphyrins causes the skin sensitivity and abdominal pains.
“The actual symptoms are, as far as one can tell, really not directly related to the compound heme itself,” Dailey said.
Porphyria is divided into seven types, depending on which enzyme is malfunctioning. For example, PPO functions at the sixth step in the heme assembly line. Defective PPO results in variegate porphyria, the type most common in South Africa.
Dailey’s lab was the first to purify the PPO enzyme. For this reason, Meissner arranged to do post-doctoral studies in his lab, creating the foundation for a future partnership. Then UCT invited Dailey to South Africa to share laboratory techniques. Two years later, Meissner, now director of the internationally recognized Porphyria Research Unit at UCT and the leading researcher on porphyria in South Africa, again settled temporarily at the University of Georgia to work on another project — identifying the mutation responsible for variegate porphyria.
Together, Meissner and Dailey first found the normal PPO gene, or the chain of molecules within DNA that acts as a code to make PPO. They then sequenced the gene, or determined the order of the molecules in the gene, using the enzyme Dailey’s lab had already copied.
“We had strong clues about what we were looking for and we had samples from patients,” Meissner said. “My Cape Town lab was sequencing DNA from a patient named Lusinda and so was Harry’s lab, because you can get sequence errors. So we both ran the sequences to compare results.”
To determine the mutation — or change in the DNA sequence — they compared the normal PPO sequence to that of a person with the disease. The researchers specifically compared the function of the normal and mutant PPO enzymes and found that the mutant PPO results in variegate porphyria.
In order to even begin this process, the researchers needed cells containing the mutation. Because variegate porphyria is a dominant inherited trait, an individual only needs one copy of the mutant gene to develop the disease.

Sunday, August 10, 2014

Acute Porphyria Patients Are Needed For A Clinical Trial

Acute Porphyria Patients Are Needed For A Clinical Trial

University 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:
  1. To evaluate the effectiveness of glucose and Panhematin, compared to glucose alone treatment for acute attacks of porphyria
  2. To 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 an intervention or treatment. It is also a randomized, controlled clinical trial, which means there is a treatment group given active drug and a control group given an inactive placebo. In this study, both groups are also treated with glucose, which is what the Food and Drug Administration (FDA) currently recommends before treatment with Panhematin. The study will occur in the hospital, with planned follow up visits in the outpatient clinic or by telephone.

To be eligible to participate in this study, you must:
Be an individual with one on the following, documented by lab reports:
  1. Acute intermittent porphyria (AIP)
  2. Hereditary coproporphyria (HCP)
  3. Variegate porphyria (VP)
  4. Be in an acute attack of porphyria.
   Contact the Amy Chapman~ orAPF for enrollment and more details 713.266.9617.

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

Friday, August 8, 2014


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

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!"

Thursday, August 7, 2014

Rare Patient Advocacy Summit

header1PAS 2

September 11-12, 2014
Hyatt Regency Resort & Spa, Huntington Beach, California

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 minutes of Q&A that will allow rare disease non-profits and patient advocates a chance to ask questions, learn more about each project and how its mission will help bring drugs to market more quickly for those in the fight against rare disease. Hear from
Project VioletImmusoft CorporationAmerican MedChem andRARE Science. More information here.

Advocates at this year’s 2014 Global Genes Patient Advocacy Summit will have an exclusive chance to learn how their voice can make a difference in the fight for faster cures. For critical patients and their families, the risk versus benefit of new treatments has been a simple decision.

Learn from
 FasterCures Director of Strategic Initiatives, Kim McCleary, about what these programs mean for rare disease advocates. You’ll hear how patient organizations are mobilizing their communities to help inform decisions made by the FDA and industry sponsors so that treatments move more swiftly from the lab to the patients who need them. More information here

Becoming an Unstoppable Charity
At this year’s 
RARE Patient Advocacy Summit you’ll take your first steps towards being unstoppable as Zenzaga CEO, Keegan Johnson, brings you the answers and the attitude it takes to create an unstoppable charity.

What can advocates hope to learn at this session?
  • Show Me The Funds: How and where do I get more donors? What makes or breaks a fundraiser? How can I put our organization on a plan for financial growth and opportunity?
  • Get Them Engaged: How can I get people excited about our mission? How can I bring on new volunteers and inspire them? How am I going to get our supporters involved?
  • Can They Hear Me Now?: How can I effectively tell our story to help our project grow? How do I generate momentum– Increase member engagement and learn the same strategies politicians and network-marketing experts use to make their visions reality?

Can’t attend in person? Our new Livestream webcastcomponent will allow up to 5,000 advocates from around the globe to attend virtually from their homes or offices via webcast at no cost! The event will be broadcast live with opportunities for patients to participate from afar using social media such as twitter and Facebook, using the hashtag #2014GGSummit.

Read more about the RARE Patient Advocacy Summit here.

To register for this event (in-person or via Livestream), please visit:

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

Monday, August 4, 2014

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!"

Friday, August 1, 2014

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!"

What is δ-Aminolevulinic Acid Dehydratase Porphyria (ADP)?

What is δ-Aminolevulinic Acid Dehydratase Porphyria (ADP)? ADP is more severe than the other acute porphyrias and can present in childhoo...