Thursday, January 31, 2019

Porphyria Post


Porphyria Post


Mark Your Calendar!
This year's PORPHYRIA AWARENESS WEEK will be
April 6-13, 2019. This is a chance for YOU to promote porphyria awareness and education within your community!!!

The APF will be providing tools for you to help you engage your community but we need YOU to participate and spread the word about porphyria. Stay tuned for more updates on this exciting week!

Have ideas for activities? Contact the APF at 866-APF-3635 or porphyrus@porphyriafoundation.com and we would love to support you!


Demand Estimation Study

Attention Acute Porphyria members...Your help is needed!

A global research company is initiating an online survey to get a deeper understanding of patients’ experiences living with acute porhyria as well as understand how well a hypothetical new treatment would meet their needs. The study can be taken on a laptop or desktop computer and will take approximately 30 minutes to complete.
Participants will be screened to ensure they meet the criteria listed below, and those who complete the survey will receive a stipend. 

Criteria:
1.   Are 18 years of age or older
2.   Have been diagnosed with Acute Hepatic Porphyria (specific types include Acute Intermittent Porphyria, Variegate Porphyria, Hereditary Coproporphyria).
3.    Own and are comfortable using a laptop or a desktop computer
4.  Have internet access

Please call the APF at 866-APF-3635 participate in the survey.  


Volunteers Needed!

The APF will be exhibiting at the 2019 ACMG Annual Meeting in Seattle, WA April 3-5. Are you interested in volunteering at our booth? If so, please contact Edrin Williams, Director of Patient Services, for additional information at edrinw@porphyriafoundation.org or 301.347.7166.

This is an incredible opportunity to raise awareness about porphyria to those with little knowledge about this rare disease.


Attention Shadow Jumpers

Shadow Jumpers, a graphic novel written by Shruti Shenbagam, Hetanshi Naik, and Dr. Manisha Balwani and illustrated by Tina Chu, is now available on the APF store for $15.

This book is designed specifically to educate children with EPP and their families in a way that everyone will understand and enjoy.

Get ready for FIND YOUR SHADOW 2019! Visit the APF Website for this year's application!

Once again this year, the Shadow Jumpers program will be selecting one family for an all-expenses paid trip to Walt Disney World in Orlando, FL. All children ages 5-17 and their families are eligible to apply. Shadow Jumpers is dedicated to finding creative ways to help kids and their families to take on a safe adventure. 

In 2018, the Stuhlsatz family was selected for Light the Moment 2018, the theme of last year's trip. Their trip - from beginning to end - was "a once in a lifetime experience!"
Shadow Jumpers is excited for your submissions to FIND YOUR SHADOW 2019! 

*please note: Shadow Jumpers is funded through donations and charitable contributions separate from the APF.



RSVP Today

Patient Education and Support Meeting- Phoenix

LOCATION
Holiday Inn & Suites Phoenix Airport
DATE AND TIME
02/23/19 1:00pm - 02/23/19 3:00pm
3220 S. 48th Street | Phoenix, AZ | Room: Scottsdale | Family and friends are welcome to attend!



Patient Education and Support Meeting- Ann Arbor

LOCATION
Holiday Inn
DATE AND TIME
03/16/19 1:00pm - 03/16/19 3:00pm
3600 Plymouth Road | Ann Arbor, MI | Room: Wolverine A | Family and friends are welcome to attend!



Patient Education and Support Meeting- Seattle

LOCATION
Seattle Public Library- Central
DATE AND TIME
04/04/19 5:30pm - 04/04/19 7:30pm
1000 Fourth Avenue| Seattle, WA | Room: Washington Mutual | Level: 4 | Family and friends are welcome to attend!





Get Involved



Contact Information

Is your contact information up to date?
If not please give us a call @ 866-APF-3635 or Email to porphyrus@porphyriafoundation.com

American Porphyria Foundation| 1.866.APF.3635 | porphyriafoundation.org

STAY CONNECTED

"Remember....Research is the Key to Your Cure!"

Thursday, January 24, 2019

Sandra Ihring VP- Variegate Porphyria

Sandra Ihring VP- Variegate Porphyria

I come from a Central Oregon town with the population of about 1100 people. I moved back here to Central Oregon, where I was raised after 40 years of being away. I took my grandson to a local ER in Redmond, OR (population about 26,000) after an accident where he hurt his foot which needed to be checked out.  I was making small talk with him in the waiting room and told him of some new information about porphyria I had learned.  A woman in the waiting room overheard our conversation.  So, as it goes in small towns; we started talking.  She told me that she had porphyria also.
She was called in to see the triage nurse but her husband remained and we visited.  I exchanged contact information with him and we briefly traded stories. She came back in the room shortly. My first question after finding out what kind of porphyria she had (AIP), I asked her how she was diagnosed; as I knew of my own 'war stories' of finally finding the correct diagnosis.
Her story was similar to mine and other porphyria patients, being brushed off by many regular doctors who do/did not understand the cluster of symptoms or level of pain involved during a porphyria attack.  If your symptoms don't exactly fit a text book illness model then it is all in your head been-there-done-that. I was diagnosed about a year ago after several Oregon doctors turned their back on me not wanting to deal with the local medical political climate. The few who didn't turn me away hung in there with me and saved my life. 
My new friend (from the ER waiting room) was diagnosed about 14 to 16 years ago in Eugene, Oregon.  She was deathly ill, hospitalized and was first diagnosed with  Guillain-Barre syndrome,  yet they still did not know exactly what was going on with her. Her doctors were all puzzled. 
She had one doctor who used her personal three days off from work researching the internet on her behalf and wondered if she might have porphyria.  This doctor did the porphyria testing and sure enough she nailed the correct diagnosis of AIP. Those kind of doctors are few and far between.
What I find amazing about our chance encounter in the local ER waiting room was that we both found out we were afflicted with this very rare disease in a sparsely populated area. One of us being among only approximately 1 in 100,000 porphyria patients affected in the US. It makes our chance meeting even more amazing...
My personal take on just how rare porphyria is: there are probably more porphyria patients out there that could be identified if our doctors had more exposure in their training about the disease; and lab technicians were trained to collect the specimens and process the samples correctly. That is my nickel's worth... 

Porphyria Post

Porphyria Post

Member Stories
Share your story! We want to hear from you…

In preparation for Porphyria Awareness Week (April 6-13), the American Porphyria Foundation invites you to share your story with the porphyria community. With permission, all stories will be featured on the APF Website. We will also feature select stories in our quarterly newsletter.

Stories should be about 500 – 2000 words and full of your personality. Make sure to include information about your specific porphyria type, your diagnostic journey and how this disease has impacted your life.

We will be sending out a small token of our appreciation to the first 5 submissions.

We look forward to receiving your stories. The APF office hears regular feedback that the stories listed on our site have helped them feel less isolated and work toward diagnosis. Thank you for having a hand in helping others through your stories and words.

Send your stories to Edrin at edrinw@porphyriafoundation.org
Volunteers Needed!

The APF will be exhibiting at the 2019 ACMG Annual Meeting in Seattle, WA April 3-5. Are you interested in volunteering at our booth? If so, please contact Edrin Williams, Director of Patient Services, for additional information at edrinw@porphyriafoundation.org or 301.347.7166.

This is an incredible opportunity to raise awareness about Porphyria to those with little knowledge about this rare disease.

Attention Shadow Jumpers

Shadow Jumpers, a graphic novel written by Shruti Shenbagam, Hetanshi Naik, and Dr. Manisha Balwani and illustrated by Tina Chu, is now available on the APF store for $15.

This book is designed specifically to educate children with EPP and their families in a way that everyone will understand and enjoy.
Get ready for FIND YOUR SHADOW 2019! Visit the APF Website for this year's application!

Once again this year, the Shadow Jumpers program will be selecting one family for an all-expenses paid trip to Walt Disney World in Orlando, FL. All children ages 5-17 and their families are eligible to apply. Shadow Jumpers is dedicated to finding creative ways to help kids and their families to take on a safe adventure.

In 2018, the Stuhlsatz family was selected for Light the Moment 2018, the theme of last year's trip. Their trip - from beginning to end - was "a once in a lifetime experience!"
Shadow Jumpers is excited for your submissions to FIND YOUR SHADOW 2019!

*please note: Shadow Jumpers is funded through donations and charitable contributions separate from the APF.

Panhematin Study - Participants Needed!
Do you have AIP, VP or HCP? Are you interested in participating in research? If so, we are recruiting volunteers for the Panhematin Study.

Our researchers need people to volunteer for the Panhematin study. Completing this study will help prevent insurance companies from not paying for this treatment.

The purpose of this study is to determine if Panhematin is safe and effective for prevention of acute attacks of porphyria.
• Can you predict when your next attack will happen?
• Are you currently receiving prophylactic heme treatment?

Please contact Edrin at the APF office (301.347.7166) if you are interested in participating.

Be a leader in Rare Disease

The EveryLife Foundation and Global Genes are partnering to bring you the RARE on the Road Tour. Learn, recognize, connect and discover within the rare disease community and spread the word about porphyria. The tour will be in Boston, MA, Birmingham, AL, Denver, CO, and Sioux Falls, SD. Visit https://raretour.org/ to learn more about this amazing opportunity!

#RAREontheRoad

EPP Clinical Trials: Volunteers Needed!
We are close, but we need YOU!

A clinical trial with an oral investigational drug intended to reduce phototoxicity in people living with EPP is underway.

Please note that a Phase 3 study is very unlikely if Phase 2 is not completed. To date, this drug has proven nontoxic and there have been essentially no dropouts in the Phase 2 study to date.

This is an oral drug which makes administration simple.

This study in adults will pave the way for a near-future pediatric trial. EPP is a rare disease and patients must participate in order to get the drug approved.

To date there is no public information on the availability of Scenesse, and if approved, two drugs on the market may lower their cost.

We will connect you with a Research Coordinator that will answer all your questions and concerns. We will work to make this process as easy as possible for you.

**Note: If you have not been contacted by a research coordinator please reach out to the APF office at 301.347.7166. **

Eligibility Criteria:
• Confirmed diagnosis of EPP
• Provide written informed consent to participate
• Be willing and able to travel to all study sites for scheduled visits
• 18 - 70 years of age at the time of screening.

Sites enrolling:
• Mount Sinai - New York City
• Wake Forest Baptist University - Winston Salem, NC
• University of Miami - Miami, FL
• University of Texas Medical Branch - Galveston, TX
• University of Utah - Salt Lake City, UT
• University of California San Francisco - San Francisco, CA

We need YOU! Please dig deep and consider being part of this changing moment for all with EPP.

Contact us here at the APF office to get in contact with a research coordinator.
301.347.7166 or 1.866.APF.635
porphyrus@porphyriafoundation.com

"Remember...Research is the key to YOUR cure!"
Each Step Toward Finding an Effective Treatment is Important!
Harvoni Study - PCT

Do you have PCT? Are you interested in participating in research? Do you have Hepatitis C? If you answered YES to these questions, this is for you.

We need YOU for a clinical trial!

The purpose of this clinical trial is to assess whether Harvoni alone is an effective therapy in active PCT patients with Chronic Hepatitis C.

Who can participate?

1. Adult patients with PCT who also have Hepatitis C

If you are interested in participating please contact Edrin Williams, Director of Patient Services at the APF office at 301.347.7166 for additional information.

RSVP Today

Patient Education and Support Meeting- Phoenix

LOCATION
Holiday Inn & Suites Phoenix Airport
DATE AND TIME
02/23/19 1:00pm - 02/23/19 3:00pm
3220 S. 48th Street | Phoenix, AZ | Room: Scottsdale | Family and friends are welcome to attend!

Patient Education and Support Meeting- Ann Arbor

LOCATION
Holiday Inn
DATE AND TIME
03/16/19 1:00pm - 03/16/19 3:00pm
3600 Plymouth Road | Ann Arbor, MI | Room: Wolverine A | Family and friends are welcome to attend!

Contact Information

Is your contact information up to date?
If not please give us a call @ 866-APF-3635 or Email to porphyrus@porphyriafoundation.com


American Porphyria Foundation| 1.866.APF.3635 | porphyriafoundation.org

STAY CONNECTED

"Remember....Research is the Key to Your Cure!"

Alie Campbell VP

ALIE CAMPBELL PORPHYRIA and ME TYPE OF PORPHYRIA Variegate Porphyria (VP) My story is probably not much different than most. I...