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Showing posts from August, 2012

Attitude and Healing- My Perspective

Having a positive attitude has helped me get through my treatment, both when I'm in the Hospital, Infusion Center and at home.  It helps me feel better and hopefully those who I come in contact with.

A friendly smile or kind word spoken can really unite us together and reminds us we are not alone.  We fight this disease together, and together we can overcome adversity. 

Just as there is no denying we have our dark days of Porphyria, and what it has brought me, there are many gratifying days filled with support, and hopefulness.  
These help me carry through.

Recognize and appreciate the bright days and draw strength from sharing your own experiences with others.  
Attitude and outlook are helpful weapons in living with this disease and, as you know, you need every tool available, why because its R.A.R.E.....

So, In addition to your Doctor, APF suggestions, and treatments you must ENDURE, try building a positive attitude into your regimen.  The smile you display and the one you'll re…

Listen to OLDER ONES!

Food for thought...Always LISTEN TO THE OLDER ONES...

I have listened to this kind gentle 87 year old man in these last few days that I would like to share with you all. No matter what never give up. You always do the best you can. Someone will always try to top you or better themselves, never stoop to that level and when faced with a hard decision in your life DON'T make a rush decision because if you make the wrong one you may regret it. That is what a young 87 year old stranger with cancer said to me, it gave me time to reflect on my own thoughts & life and the things that I do have both good and bad but we can all make better choices so try to make each day better and when you do have a bad day think of the good things you do have going for you.

Ruth Bruno her personal story with AIP

Type of Porphyria:  Acute Intermittent Porphyria (AIP)
My name is Ruth Delores Bruno, and I live in Rolling Meadows, IL. I am married and the mother of two young sons.
In 1973, while driving home from work, I started to mentally prepare for dinner. It was 5:00 PM and traffic was slow. My two sons were at softball practice and my husband had a tennis match after work, so I had plenty of time to stop at the bakery. As I parked my car in front of the bakery, I started to feel strange. My legs and hands were beginning to tingle and then a familiar pain started to throb in my right side. I turned and hurried to my car. Then all my symptoms returned; pain in the right side, numbness, nausea, projectile vomiting, heart palpitations, confusion, panic, and, of course, fear and embarrassment.
I began to vomit uncontrollably and my pain intensified. I tried to walk into my house but fell and dragged myself into my kitchen to the phone. I called my Doctor. He sounded exasperated, because he thou…

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

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 si…

URGENT! Please Join the Registry

Join the Porphyria Registry and LET THE GOVERNMENT KNOW THEY MUST PROVIDE FUNDING FOR PORPHYRIA RESEARCH!!!!! 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 want improved …

Porphyria Education for MDs~ Have you Ordered this Yet?

The APF promotes comprehensive health care necessary to
manage life with porphyria. We encourage members to call
the office and request a free Acute Porphyria Physician
Education Kit for your doctor. Treating physicians can also
get information about consulting a Porphyria specialist on diagnosis
and patient care.
Acute Porphyria Physician Education Kit contents:
• “Diagnosis and Management of the Acute Porphyrias,”
(Annals Int Med, March 2005);
• APF Brochures on all of the porphyrias (written by porphyria
• Detailed information on biochemical and genetic testing
for porphyria;
• Detailed information on treatment of acute porphyria
with Panhematin® (hemin for injection), and preparing
hemin with albumin.
The APF also offers:
• An acute porphyria Drug Safety Database;
• Two Continuing Medical Education courses on Porphyria
(online, free of charge to practicing physicians);
• A PowerPoint presentation, suitable for detailed presentation
to students and hospital staff;
• Porphyria Live (30-minute e…