Thursday, August 30, 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 receive back is infectious.

Your approach to treatment and getting your positive drive to get better will help everyone!

Monday, August 20, 2012

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.

Friday, August 3, 2012

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 thought my symptoms were mental, but nonetheless, he sent an ambulance to admit me to the hospital.
The doctor in the ER thought I had symptoms of a rare disorder and decided to do a WATSON-SCHWARTZ test on my dark wine-colored urine. By the time my husband and my family doctor arrived, the test was positive. My doctor apologized, "I am sorry, Ruth. It appears that you have not been imagining your pain."
"Sorry," I thought, "nine years of tests too numerous to remember and all the money spent on incorrect treatment, and he is sorry." I wanted to scream and cry, but instead I got dressed and politely said, "Thank you".
I was subsequently sent to a teaching hospital in Sayre, PA. After a week of tests, x-rays, and psychological exams, I was given the diagnosis of AIP. While I waited for my husband to come for me, I bought a newspaper and tried to concentrate on the national news rather than my own news. The national news was depressing too, so I turned to the Help Wanted section. An ad jumped out at me. New York State University was offering a new nursing program for adults. It was fate, because that class was taught one mile from my front door. The classes were the same hours as my children's, as well as the same holidays, etc. I had prayed for guidance, and here it was. I took the entrance exam, passed and was accepted into the program. It was the best thing I ever did for my family and me.
The following two years were filled with hard work. I learned to forgive human mistakes and to respect good doctors and nurses. I also learned to sincerely listen to what patients communicated to me in words and actions. I learned to speak in layman's terms when explaining treatments and procedures, and I have developed a very strong shoulder when someone needs it.
Porphyria has helped me grow in so many ways. It also has brought some wonderful people into my life. Fortunately, my sons and my sister tested negative for porphyria, but I still live with attacks. As a little girl growing up in a small southern town, I never dreamed I was going to face a rare disease and most of all, I never dreamed that I would become a nurse to cope with it all.

Wednesday, August 1, 2012

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 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.
·          Next time:  Feelings When Finding Out Your Diagnosis

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 health care. If we don't speak up, we will be left behind when research funding is given. We DO NOT HAVE ENOUGH PEOPLE ON THE REGISTRY. Please join the registry.
Joining the Porphyria Registry is anonymous and free of charge. All data will be stored in a secure, computerized database. No personal identifying information (such as your name, address, telephone number) will be given to anyone without your expressed approval.
_________________________________________________
The registry is not linked to APF membership, but we hope you will join the American Porphyria Foundation too! So please consider joining the Contact Registry, and thank you for continuing to be a member of the APF.
Doctors who study rare diseases see a relatively small number of sufferers over many years of practice. This Registry will give a big boost to medical and scientific understanding of porphyria by bringing together information from patients all over the country.
If you need help enrolling in the registry contact our office toll free at            1-866-APF-3635      .

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
experts);
• 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 educational DVD focusing on
PCT, AIP and EPP, features patient stories and extended specialist
interviews).
For more information, call 713-266-9617 or 866-APF-3635.

Advance Care Planning- Prepare NOW!

Making decisions in health care and ethics. Why prepare?  Prepare for the unexpected. It seems we often go through the motions of prepar...