Wednesday, February 27, 2013

Join Rare Connect, Why? & What It Is!

What is Rare Connect?  Once you sign up it's free and you become a  member.  You are Connecting with Patients of Rare disease Globally!  There is Information from many of the Porphyria Centers worldwide, we ask questions, we talk, we read and join in excellent conversations!  So if you see any familiar faces say "HI" and become friends and if you or know someone with another disease join that group to.  We are excited for all of you to join in this process.  All groups are monitored and all have good guidelines to follow and it's so simple to use.  If you have any problems or signing up please contact and she will be happy to assist you.

   "Research is the Key to Your Cure"


Hosted by trusted patient advocates, this is a place where rare disease patients can connect with others globally.Come in and learn more >
JOIN NOWIt’s Free!

Our Communities

Our Communities
Find an online community for your area of interest. Meet, interact and learn from your peers and medical experts. We have 39 rare disease communities with more to come soon!

Join RareConnect

Join RareConnect
Meet and interact with others who share your condition in a supportive and friendly environment. Find the information and support you need and share your own experiences.

Member Story

Read Vittoria's Story
Vittoria's Story - Hello my friends, my name is Vittoria and I am very happy to make your... Read more >


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Tuesday, February 26, 2013

Rare Disease Day February 28th 2013

Rare Disease Day
February 28th 2013

Rare Disease Day is an international advocacy day to bring widespread recognition of rare diseases as a global health challenge. The day is celebrated on the last day of February every year.  In 2013, it will be observed on February 28th. 

Anyone can be involved in Rare Disease Day. The day has been established as a grassroots advocacy day and we encourage everyone to participate in some way!

What is a Rare Disease?

In the U.S., any disease affecting fewer than 200,000 people is considered rare. This definition comes from the Orphan Drug Act of 1983 and is slightly different from the definition used in Europe. There are nearly 7,000 rare diseases affecting nearly 30 million Americans. In other words, almost one in ten Americans are suffering from rare diseases.

Besides dealing with their specific medical problems, people with rare diseases struggle to get a proper diagnosis, find information, and get treatment. The rarity of their conditions makes medical research more difficult.
Working together across the World we all can make a difference. Please get involved in every opportunity to bring awareness to Porphyria and the many other rare diseases that affect so many people.

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

Wednesday, February 20, 2013

Why Is Getting A Rare Disease Diagnosis So Difficult?

Why Is Getting A Rare Disease Diagnosis So Difficult?
It can be a long, frustrating process
·         From:NIH
Getting a rare disease diagnosis can be a long, frustrating process
Photo © Getty Images/Photodisc
Getting a correct diagnosis is often a major challenge for someone who has a rare disease. Many people are unable to get a diagnosis, are misdiagnosed or have one diagnosis then another. There are many reasons why getting a rare disease diagnosis can be a long, frustrating experience.
Your disease is rare
It may seem obvious, but the very fact that a disease is rare makes it very difficult to be recognized. You may see many doctors before you finally find one who knows something about what you have. Some diseases are so rare that only a geneticist (genetics specialist) would be able to identify them after genetic testing is done.
·         Is It A Rare Disease?
Your symptoms are 'nonspecific'
Some rare diseases have symptoms, such as weakness, anemia, pain, vision problems, dizziness or coughing. Many different diseases can cause these symptoms, so they are called “nonspecific,” meaning they are not signs of a specific disease. Doctors are trained to look at more common causes of symptoms first, so they may not be thinking along the lines of a rare disease when they examine you.
Your symptoms are unusual
It seems logical that having an unusual symptom would help in pinpointing a diagnosis. This is true if the doctor examining you is familiar with a disease that causes the symptom. If he or she doesn’t know of any disease that causes the symptom, then most likely you will be referred to a specialist who may know something about your condition.
You don’t have 'textbook' symptoms
You may have a rare disease, but your symptoms do not fit the “classic” or typical picture of the disease. You may have symptoms that don’t usually go along with the disease, or you may not have all the symptoms that are expected with the disease. Doctors may hesitate to diagnose you with the rare disease because of this.
You have been waiting forever to see a specialist
It’s difficult to get an appointment with some doctors, most of all those who specialize in rare diseases. It may be 3 to 6 months before you can see someone who has a heavy schedule. It can be disappointing to wait a long time only to be told that they’re not sure what you have or that they want you to go see another specialist.
·         Waiting For A Diagnosis
Telling your story was easy the first 50 times
I know a mother of a child with a rare disease who has typed up some pages explaining what her daughter’s disease is, her medical and surgical history and her current medications. The mother hands copies of these pages to each new doctor who examines her daughter so she won’t have to repeat everything yet again. You may feel as frustrated as she does, having to give the same information many times. It may seem as if the doctors don’t read your chart or look at your test results. Seeing new doctors adds to the stress of getting a diagnosis.
NIH Undiagnosed Diseases Program
Sometimes, despite seeing the best specialists, you can’t get a correct diagnosis. Doctors may use words such as “of unknown etiology” or “idiopathic” (meaning, “we don’t know what causes it”) or “atypical” (meaning “unusual”). You may be given a diagnosis that best fits your symptoms, or given two or more diagnoses together.
Recognizing that people with rare diseases may have difficulty getting a diagnosis, the U.S. National Institutes of Health (NIH) started the Undiagnosed Diseases Program in September 2008. This research program will evaluate 50 to 100 cases of undiagnosed diseases to try to provide answers to people with mysterious conditions and to advance medical knowledge about the diseases. If you have a medical condition but no diagnosis, talk with your doctor about participating in this program. Information specialists at the Clinical Centers Recruitment Call Center (1-866-444-8806) can provide more information about eligibility and what kinds of medical information your doctor needs to submit for review.

Tuesday, February 19, 2013

Protect our future

Protect our future

The Protect Our Future campaign was established to attract and train the next generation of doctors and specialists in the field of Porphyria. Over the next decade, we will lose ninety percent of our valued Porphyria experts. These men and women have led Porphyria research, testing and treatment for the past 30 years. Without financial support, we run the risk of losing knowledge of the disease, quality testing, diagnosis, and treatment, and ultimately a cure.

When we originally made the Protect Our Future appeal, the APF received a higher volume of payments for annual memberships. We appreciate your contributions, which help fund patient and physician educational programs.

Protect Our Future is a separate campaign and need. We are seeking additional donations for the specific purpose of locating and training new porphyria specialists.

You and I are pulled in so many directions for our donations, such as churches, police leagues and schools. But rarely will we be presented with an opportunity to affect the course of our own lives and those of our children for years to come.

Please consider a donation or fundraiser to support this goal.
Let’s work together to bring another great specialist into our lives. We are so very fortunate to have the few porphyria experts who are presently in the field. Now we can protect our own future by adding more doctors.

Donate now!
Please make a note that you are donating to the Protect Our Future campaign so that we can allocate those funds appropriately.

Sunday, February 10, 2013

Would you like to Tell your story about Porphyria?

HI there all! 

 I hope that everyone is doing well at this time.  
I am looking for those who might be willing to share there story about Porphyria and what struggles they have and how they have been able to get back to better health.  We all need help and ideas so please take a moment to think about this invite and if you would like to share your thoughts and stories please email me @

Self-esteem: 4 steps to feel better about yourself!

Self-esteem: 4 steps to feel better about yourself

I know that having Porphyria can be very difficult at times but when I read this over it really made me think about how I view things and how I can change them.  Once you put them into practice I know you will feel better about yourself but your life to.  Enjoy:)

If you have low self-esteem, harness the power of your own thoughts and beliefs to change how you feel about yourself. Start with these four steps to a healthier self-esteem.
Low self-esteem can negatively affect virtually every facet of your life, including your relationships, your job and your health. But you can take steps to boost your self-esteem, even if you've been harboring a poor opinion of yourself since childhood. Start with these four steps.
Step 1: Identify troubling conditions or situations
Think about the conditions or situations that seem to deflate your self-esteem. Common triggers might include:
·         A business presentation
·         A crisis at work or home
·         A challenge with a spouse, loved one, co-worker or other close contact
·         A change in life circumstances, such as a job loss or a child leaving home
Step 2: Become aware of thoughts and beliefs
Once you've identified troubling conditions or situations, pay attention to your thoughts about them. This includes your self-talk — what you tell yourself — and your interpretation of what the situation means. Your thoughts and beliefs might be positive, negative or neutral. They might be rational, based on reason or facts, or irrational, based on false ideas.
Step 3: Challenge negative or inaccurate thinking
Your initial thoughts might not be the only possible way to view a situation — so test the accuracy of your thoughts. Ask yourself whether your view is consistent with facts and logic or whether other explanations for the situation might be plausible.
Be aware that it's sometimes tough to recognize inaccuracies in thinking, though. Most people have automatic, long-standing ways of thinking about their lives and themselves. These long-held thoughts and beliefs can feel normal and factual, but many are actually just opinions or perceptions.
Also pay attention to thought patterns that tend to erode self-esteem:
·         All-or-nothing thinking. You see things as either all good or all bad. For example, "If I don't succeed in this task, I'm a total failure."
·         Mental filtering. You see only negatives and dwell on them, distorting your view of a person or situation. For example, "I made a mistake on that report and now everyone will realize I'm not up to this job."
·         Converting positives into negatives. You reject your achievements and other positive experiences by insisting that they don't count. For example, "I only did well on that test because it was so easy."
·         Jumping to negative conclusions. You reach a negative conclusion when little or no evidence supports it. For example, "My friend hasn't replied to my email, so I must have done something to make her angry."
·         Mistaking feelings for facts. You confuse feelings or beliefs with facts. For example, "I feel like a failure, so I must be a failure."
·         Self put-downs. You undervalue yourself, put yourself down or use self-deprecating humor. This can result from overreacting to a situation, such as making a mistake. For example, "I don't deserve anything better."
Step 4: Adjust your thoughts and beliefs
Now replace negative or inaccurate thoughts with accurate, constructive thoughts. Try these strategies:
·         Use hopeful statements. Treat yourself with kindness and encouragement. Pessimism can be a self-fulfilling prophecy. For example, if you think your presentation isn't going to go well, you might indeed stumble through it. Try telling yourself things such as, "Even though it's tough, I can handle this situation."
·         Forgive yourself. Everyone makes mistakes — and mistakes aren't permanent reflections on you as a person. They're isolated moments in time. Tell yourself, "I made a mistake, but that doesn't make me a bad person."
·         Avoid 'should' and 'must' statements. If you find that your thoughts are full of these words, you might be putting unreasonable demands on yourself — or on others. Removing these words from your thoughts can lead to more realistic expectations.
·         Focus on the positive. Think about the good parts of your life. Remind yourself of things that have gone well recently. Consider the skills you've used to cope with challenging situations.
·         Relabel upsetting thoughts. You don't need to react negatively to negative thoughts. Instead, think of negative thoughts as signals to try new, healthy patterns. Ask yourself, "What can I think and do to make this less stressful?"
·         Encourage yourself. Give yourself credit for making positive changes. For example, "My presentation might not have been perfect, but my colleagues asked questions and remained engaged — which means that I accomplished my goal."
These steps might seem awkward at first, but they'll get easier with practice. As you begin to recognize the thoughts and beliefs that are contributing to your low self-esteem, you can actively counter them — which will help you accept your value as a person. As your self-esteem increases, your confidence and sense of well-being are likely to soar.

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...