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Showing posts from March, 2015

National Porphyria Awareness Week!

National Porphyria Awareness Week!
National Porphyria Awareness Week (NPAW) is just around the corner, April 11-18! It is a very exciting time of the year.  NPAW is the week that the APF collaborates with YOU to help you enhance porphyria awareness in your own communities and the medical professionals who practice there.  Over the past years, some of YOU have participated in health fairs, seminars, fundraising and media events.  Terri Witter, Amanda Boston, Marianna Donaghy, Amanda Rich, Stefanie Rehmann and many, many others have distributed Porphyria Fact Sheets, brochures and doctor packets to their physicians. One of the important means to enhance awareness is to contact local media and ask them to run a story about you and your journey or your awareness event.  This year's Shadow Ride is a good story, too, to use to draw attention to porphyria.   The APF will help you accomplish your own activity by providing materials including: Porphyria Brochures, A Porphyria Live DVDs, Fact …

Highlight of March: Story of Amanda Rich & AIP

Hi my name is Amanda Rich. I have acute Intermittent Porphyria or AIP. I found out in 2011 that I have it. Growing up I would have intense abdominal pain, joint pain, nausea, vomiting, mood irritability and always re week before and the week of my menstrual cycle. Now it makes sense.  I ended up going to the e.r. with abdominal pain and I found out it was ischemic colitis. Well the medicine they gave me to treat it almost killed me. I then ended up in ICU for 9 days. While there I had to have a catheter place and the nurses started freaking because my urine was orange/purple. They didn't know what to do so I had my husband get my bio mom's autopsy report explaining AIP.   The hospital then collected urine and sent it to the mayo clinic. Low and behold it came back positive for extremely high PBG levels and positive for AIP.  I was referred to my local cancer center that has an AIP specialist. Fast forward to 2013, I had a port a cath place in my chest in July and everything se…

How Can I Deal With Anxiety?

How Can I Deal With Anxiety?What makes you anxious? Is anxiety always bad? What you can do What your peers say What makes you anxious? Do the following statements describe how you feel at times? “I’m constantly thinking: ‘What if . . . ?’ ‘What if we get in a car accident?’ ‘What if our plane goes down?’ I’m anxious about things that a more rational person wouldn’t worry so much about.”—Charles. “I feel anxious all the time, as though I were a hamster on a wheel running around but never getting anywhere. I’m working myself to death but not really accomplishing anything!”—Anna. “When people tell me that I’m fortunate that I’m still in school, I say to myself, ‘They have no idea how stressful school is!’”—Daniel. “I’m like a pressure cooker. I’m always worried about the next thing that will happen or the next thing I need to do.”—Laura. Fact of life: We live in what the Bible calls “critical times hard to deal with.” (

World RARE Disease Day

Dear Global Genes Friends & Supporters,

We wanted to thank YOU for helping make World Rare Disease Day 2015 a huge success! Celebrated by patients, advocates, their friends and families, co-workers, caregivers, schools, doctors, nurses, biotech & pharmaceutical companies and rare disease foundations–supporters turned up and dressed down (in jeans, of course!) to spread awareness all over the world!

We would like to learn more about your World Rare Disease Day activities. In an effort to capture the highlights of all the events that happened around the world, please help us by responding to this survey. We would love to know how you celebrated and what you accomplished.  We want to hear from you so we can share best practices with others, show the impact our awareness efforts made and ensure next year's World Rare Disease Day is the best ever!  
Please respond by Thursday, March 7th. Did you host or attend an event? Did your school or office participate in a Wear That You Care …

Please read March's Highlight Story on Jackie Cory & EPP

Please read March's Highlight Story on Jackie Cory & EPP

My name is Jackie Cory and I have Erythropoietic Protoporphyria (EPP). At a very early age I started complaining of extreme burning in my hands, knees, face, any exposed skin. I would cry & wail but no one understood. At 5 years old I remember being put in a bathtub full of ice & water. It helped but only for awhile. When I went to camp in 5th grade my hands swelled shut so I couldn't make a fist. I was so embarrassed & in pain. In junior high I couldn't do all the cool things my friends did like go berry picking or hang out at the beach. I was different & no one understood me. My parents took me to various Dr's but that only led to cortisone shots, allergy pills, special soaps & tranquilizers. I can still remember the awful taste of milk with atarax in it. I couldn't sleep, I would get up at night, run my hands under cold water then blow on them till they'd dry, then get up & d…