Members & Followers

Friday, March 20, 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 sheets, Powerpoint Presentations and materials for medical seminars, as well as press releases for local newspapers and television and other suggestions. Even if you cannot organize an event, the materials are invaluable to mental health professionals, hospitals and all types of health organizations. Call us: 713.266.9617.

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

Monday, March 16, 2015

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 seemed good. Or so I thought. My body rejected the port in August and I ended up becoming septic and was admitted to the hospital. Long story short I almost died 4 times that month. (the sepsis, anaphylaxis from mushrooms, kidney damage and renal failure from vancomycin, and then I got a DVT in my arm.) All while in hospital I was getting Panhematin, which was a lifesaver to curb my attacks. Then in Dec 2013 I volunteered for a research study and I went to nyc. I have also done other studies where they come to me and draw labs. I also just had my second port placed in august of 2014 and no problems yet. Despite it all I have a positive attitude due to my amazing family, friends and support team. Everyone that I have met through Facebook, the APF, and re groups have been there for us and we are grateful.  Right now my two yr old is showing signs of AIP so we had her tested and she has the same mutation. I know now what to do for her. Thank you for reading my story and one day there will be a cure for all of us.


Thank You Amanda for sharing your story with us.  IF you would like to share your story please email it to me @ Amy.apf@gmail.com


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

Tuesday, March 10, 2015

How Can I Deal With Anxiety?

How Can I Deal With Anxiety?

 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.” (2 Timothy 3:1) Because of that, anxiety can affect young people as much as it affects adults.

 Is anxiety always bad?

The answer is no. In fact it is right for people to be anxious to please the ones they love.
Also, let’s face it—anxiety can be a powerful motivator. For example, suppose you will be taking a test at school next week. Anxiety might compel you to study this week—and that might help you get a better grade!
A degree of anxiety can also alert you to danger. “You might feel anxious because you know that you’re taking a wrong course of action and that you need to make changes for your conscience to be at rest,” says a teenager named Serena.
Fact of life: Anxiety can work for you—as long as it moves you to the right kind of action.
But what if anxiety traps you in a maze of negative thinking?
A man helps a teenage boy find his way out of a maze
Anxiety might make you feel as if you were trapped in a maze, but someone with a different perspective can help you find a way out
Example: “My mind races when I think about the different ways a stressful situation could turn out,” says 19-year-old Richard. “I play the situation over and over in my mind to the point that it makes me very anxious.”
The Bible says that “a calm heart gives life to the body.” (Proverbs 14:30) On the other hand, anxiety can bring on a number of unpleasant physical symptoms, including headaches, dizziness, upset stomach, and heart palpitations.
What can you do if anxiety seems to be working against you rather than for you?

 What you can do

  • Question the reasonableness of your anxiety. “Being concerned about your responsibilities is one thing; being overly anxious is another. It reminds me of the saying, Anxiety is like a rocking chair. It gives you something to do, but it doesn’t get you anywhere.”—Katherine.

    What this means: Unless anxiety leads you toward a solution, it will only add to your problem—or become your problem.
  • Take things one day at a time. “Think it through. Will what you are anxious about matter tomorrow? in a month? in a year? in five years?”—Anthony.

    What this means: It makes little sense to take on tomorrow’s problems—some of which may never even become a reality.
  • Learn to live with what you cannot change. “The best you can do is prepare for situations to the extent possible, but accept the fact that some situations are out of your control.”—Robert.

    What this means: Sometimes you cannot change your circumstances, but you can change the way you view them.
  • Put your situation in perspective. “I find that I have to focus on the big picture and not stress over the details. I have to choose my battles and channel my energy into taking care of priorities.”—Alexis.

    What this means: People who put their anxieties in perspective are less likely to be overwhelmed by them.
  • Talk to someone. “When I was in the sixth grade, I would come home from school very anxious, dreading the next day. My mother and father would just listen to me as I expressed myself. It was so good to have them there. I could trust them and speak freely to them. It helped me to face the next day.”—Marilyn.

    What this means: A parent or a friend might be able to give you practical suggestions on how to reduce your anxiety.

  • When Anxiety Is Severe

Friday, March 6, 2015

World RARE Disease Day

WRDD email banner
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 day? Did you hold a fundraiser? Whether you simply wore a ribbon or decked the halls in denim blue–we want to hear from you!
Send us your pictures, stories and accomplishments for this year’s World Rare Disease Day using the link to the form below. Your story will be included in an upcoming RARE Recap post on the new RARE Daily!
Take our survey here: http://globalgenes.org/wrdd-recap-2015/
 
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Global Genes is a 501(c)(3) nonprofit organization advocating for rare disease globally.
If you would like to share what you did for this special day write us an email to Amy.APF@gmail.com


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

Tuesday, March 3, 2015

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 & do it again. I was always seeking shade, positioning my hands anyway I could to be hidden from the sun, in pockets, back to the sun, under my legs... anywhere but in the sun. I could never explain it to anyone, after all my hands weren't red or hot to touch, must be in my head right? One day when I turned 35 I went to a dermatologist to see about getting some "tanning pills" I'd heard of. I thought since I'd never been able to tan this might help me stay out in it & feel "normal". He said it looked like I may have Erythropoietic Protoporphyria (EPP). He did a urine test & right there & then changed my life with a diagnosis. Now I had a real disease!!! All my suffering & pain was validated. At that time I had 2 boys aged 3 & 5, neither with any symptoms. I learned of sun protective clothing & uva/uvb sunscreen. Luckily at this age I didn't care if I was a "sun nerd" with big hats, gloves, long sleeves... I now had a real disease! Learning of the American Porphyria Foundation was another huge plus. I could actually read about other people like me! A few years ago I participated in the clinical trials for Scenesse in San Francisco & on one occasion actually got to talk with 2 men that also had EPP. It had been my life-long dream to actually meet someone else who had endured this monster. Thank you APF!!!! I am now 62 with a loving husband, two grown boys & a wonderful grandson that all love & accept me for who I am, "sun nerd" and all.

I would just like to mention that my brother also has a rare genetic disease, Alpha 1 Antitrypsan Deficiency. We had an older sister who was born with sclerosis of the liver & died at age 5 due to it. We'll never know which genetic disease contributed to that but wow, how rare to have 3 children, all with a rare, unknown disease back in the 50's.

Thanks so much for taking the time to read this. Knowing that other people understand and care means so much

Jackie Cory


If you would like to share your story please email me at Amy.apf@gmail.com.  Many can learn from you!  Please share.

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

Saturday, February 28, 2015

Celebrate Rare Disease Day With Us! TODAY!

Celebrate Rare Disease Day With Us!
Rare Disease Day takes place on the last day of February each year. The main objective of Rare Disease Day is to raise awareness amongst the general public and decision-makers about rare diseases and their impact on patients' lives.
The campaign targets primarily the general public and also seeks to raise awareness amongst policy makers, public authorities, industry representatives, researchers, health professionals and anyone who has a genuine interest in rare diseases. It is the date to raise porphyria awareness!
Since Rare Disease Day was first launched by EURORDIS and its Council of National Alliances in 2008, thousands of events have taken place throughout the world reaching hundreds of thousands of people and resulting in a great deal of media coverage.
The political momentum resulting from Rare Disease Day also serves advocacy purposes. It has notably contributed to the advancement of national plans and policies for rare diseases in a number of countries.
Even though the campaign started as a European event, it has progressively become a world phenomenon, with the USA joining in 2009, and participation in a record-breaking 84 countries around the world in 2014. We hope many more will join in 2015. Some countries have decided to raise rare disease awareness further, for example, Spain declared 2013 as the National Year for Rare Diseases.
On rarediseaseday.org you can find information about the thousands of events happening around the world to build awareness for people living with a rare disease and their families. Promote the knowledge about porphyria in your communities!

Shadow Ride Updates
We will reserve the bed and breakfast in Pawhuska, OK for Friday, April 10 and Saturday, April 11 for The Shadow Ride. Please call us to confirm and RSVP your spot.
You can stay in nearby Bartlesville or drive on to Oklahoma City that evening in preparation for the Patient Education meeting with renowned expert, Dr. Sylvia Bottomley. We have a list of hotels and detailed map ready for you!
As you already know, the Kick Off ride will be held on April 11, 2015 on the famous Drummond and Hull ranches near Tulsa, Oklahoma. There will be fun for everyone, including games and miniature donkeys to ride for the kids, as well as The Shadow Ride, the opportunity to meet other porphyria friends, try Mary Hull's delicious Bar-B-QUE and watch a cowboy show. The following day, the APF will also hold a patient education meeting at the famed Cowboy Museum on April 12, 2015 from 2-5 pm. Dr. Sylvia Bottomley will make a presentation on the porphyrias and answer your questions.
Save the date, come casual and be prepared to have a wonderful time!
Please contact the APF at 713.266.9617 for maps and hotels, details of the ride and to RSVP. Everyone is welcome!



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