Wednesday, October 31, 2018

Porphyria Post ~ BRAND NEW WEBSITE TOMORROW!~



Porphyria Post


BRAND NEW WEBSITE TOMORROW!



We are excited to announce that we will launch our newly updated APF website TOMORROW. It is optimized to offer the patient community and healthcare professionals easy access to critical content - written by renowned experts - on all of the porphyrias.

On Thursday, November 1, 2018 you will be able to access the new website from any browser and on any device at

Thank you to our members, industry partners, and our brilliant physicians for making this update possible!

Mobile view of the New APF Homepage!




Pet Calendar Update
CALENDAR UPDATE: We are a week into voting and have seen an outstanding response! There is still a week left so remember to vote for your favorite pet picture and show your support of the APF. You can visit the APF website and see all of our amazing entries to pick who you want to see on the cover of the 2019 APF Pet Calendar! All photos will be included in the calendar though. Happy voting! 

Important Dates:

Voting: October 23rd - November 8th
Calendars ready for sale and shipping on November 25th!

Link to entries on APF Website: APF Website Contest Page


AMAZON SMILE
Starting your holiday shopping? Many of you purchase numerous items from Amazon. Did you know that your you can support the APF through the AmazonSmile program! Amazon donates 0.5% of the price of your eligible AmazonSmile purchases to the charitable organization of your choice.

Please make the APF your choice of a charitable donation. Support porphyria while shopping!

Note, this program to provide donations to the APF will ONLY be available to shoppers who visit Amazon via a special web address, namely, www.smile.amazon.com instead of the normal www.amazon.com homepage.

It is easy and free! AmazonSmile is the same Amazon you know - same products, same prices, same service.

Thank you for supporting us!  Please follow the link:  http://smile.amazon.com/ch/36-4401266 .

Once you are logged in you will see at the top of your screen that you are supporting the American Porphyria Foundation.

RSVP TODAY!
Patient Education and Support Meetings coming your way. Contact the APF today to RSVP! We look forward to seeing you there.

Patient Education and Support Meeting - San Francisco

LOCATION
UCSF Medical Center | 505 Parnassus Ave.| Room: S-157| San Francisco, CA 94143
DATE AND TIME
11/11/18 5:30pm - 11/11/18 7:00pm
Seating is limited. Please RSVP Today!!



Patient Education and Support Meeting - San Diego

LOCATION
Double Tree Hotel - San Diego - Hotel Circle | 1515 Hotel Circle South | San Diego, CA 92108 |
DATE AND TIME
12/01/18 6:00pm - 12/01/18 8:00pm
Room: SOLANA | Please RSVP Today! Please note that there will be a Porphyria Specialist on site. We look forward to seeing you there!






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!"

Tuesday, October 30, 2018

Porphyria POST

VOTE: 2019 Pet Calendar, RSVP - Patient Education Meetings and EPP Clinical Trials

Let the voting begin!
Submissions have now closed for the 2019 Pet Calendar Contest. We appreciate all of your entries and can't wait to see how well everyone does in the contest.
If you haven't already done so, please go to the APF website to see everyone's submissions!
Make sure that you see your share this link and your individual voting pages with your family and friends.
The final 12-month wall calendar will feature your wonderful animals, porphyria facts, tips, and important dates. Voting for the top slots will be held online and will benefit our critical Protect the Future program.

Here’s how it works:
To Vote:
ALL photo entries will be included somewhere in the calendar, though the “top dogs” will be featured on the cover and in each month!
Starting October 23rd - Your pet’s photo will be posted on the APF website for all to see. You’ll be able to share the link with family and friends to encourage a vote! Anyone can participate with a $1+ donation per vote.
Important Dates:
  • Voting: October 23-November 8
  • Calendars ready for sale and shipping on November 25th!
Please contact Autumnlee at the APF office with any questions at:autumnlee@porphyriafoundation.org or call (301) 347-7166.
GOOD LUCK TO EVERYONE and HAVE FUN!

EPP Clinical Trials - NEED PARTICIPANTS
Are you ready to be a medical hero? A new clinical trial with an oral investigational drug intended to reduce phototoxicity in people living with EPP has begun. Don’t delay!
Pharmaceutical company: Mitsubishi Tanabe
Length on treatment: 16 weeks
Treatment: Oral (pills)
Number of appointments: 7-9
Arrangements: Includes Travel/hotel/food
Stipend: Each participant will receive a stipend
Locations: New York City, NY/Winston-Salem, NC/Miami, FL/Galveston, TX/Salt Lake City, UT/San Francisco, CA
How many participants do we need: 102!!!
Please contact the APF at 1.866.APF.3635 if you are interested in participating.
"Remember...Research is the key to YOUR cure!"
Each Step Toward Finding an Effective Treatment is Important!

New Publication - Journal of Pediatrics
Dr. Manisha Balwani, Porphyria Expert at Mount Sinai in New York City recently authored a publication that was recently released in the Journal of Pediatrics.
Please click on the link below to review.
RSVP TODAY!

Patient Education and Support Meetings coming your way. Contact the APF today to RSVP! We look forward to seeing you there.
Patient Education and Support Meeting - Missouri
LOCATION
THIS MEETING HAS BEEN CANCELLED
DATE AND TIME
10/27/18 12:00pm - 10/27/18 2:00pm
This meeting has been cancelled and will be rescheduled at a later date. If you have any questions, please reach out to Edrin at the APF!

Patient Education and Support Meeting - San Francisco
LOCATION
UCSF Medical Center | 505 Parnassus Ave.| Room: S-157| San Francisco, CA 94143
DATE AND TIME
11/11/18 5:30pm - 11/11/18 7:00pm
Seating is limited. Please RSVP Today!!

Patient Education and Support Meeting - San Diego
LOCATION
Double Tree Hotel - San Diego - Hotel Circle | 1515 Hotel Circle South | San Diego, CA 92108 |
DATE AND TIME
11/11/18 5:30pm - 11/11/18 7:00pm
Room: SOLANA | Please RSVP Today! Please note that there will be a Porphyria Specialist on site. We look forward to seeing you there!

Emergency Room Guidelines for Acute Porphyrias


Emergency Room Guidelines for Acute Porphyrias
These Emergency Room Guidelines (download PDF) cover essential information for the emergency physician treating a patient in an acute porphyria attack, including common precipitating factors, typical presentation and other diagnostic clues, making the initial diagnosis, common sequelae and best practices for treatment. A PowerPoint presentation (as PDF) for instruction is also available.
Please note: These Guidelines are for Physician Use Only. The APF sells a separate, personalized Emergency Room and Primary Care Physician Kit that contains all the information acute porphyria patients need to have with them in the Emergency Room (medical journal articles, information about diagnostic labs and Panhematin®, room for your own diagnostic test results).
Neville R Pimstone MD, PhD, Head Liver Diseases Greater West Los Angeles Veterans Affairs, Professor Emeritus UC Davis
Karl E. Anderson MD, Professor, Departments of Preventive Medicine and Community Health, Internal Medicine, Pharmacology and Toxicology; Associate Director, General Clinical Research Center, Director, Porphyria Center and Laboratory, University of Texas Medical Branch, Galveston, Texas
Bradley Freilich, MD, Kansas City Gastroenterology and Hepatology, LLC

KEY POINTS
1. The human porphyrias are clinical disorders reflecting defects in heme biosynthesis.
2. Acute porphyrias cause acute attacks of neurological symptoms that can be life-threatening.
3. Acute attacks are triggered by certain drugs, sex steroid hormones, reduced intake of calories and carbohydrate, alcohol and unknown factors.
4. Many of these factors stimulate heme synthesis in the liver, which in the face of a metabolic enzyme defect, leads to increased production of heme precursors that may be neurotoxic.
5. Delta-aminolevulinic acid (ALA) and porphobilinogen (PBG), are porphyrin precursors and intermediates in the heme biosynthetic pathway.
6. ALA and porphobilinogen (PBG) are almost always elevated in urine during an acute attack of porphyria.
7. The most common emergency room (ER) clinical presentation is acute abdominal pain. Other features may include seizures, confusion and hallucinations, and a progressive polyaxonal motor neuropathy, which can progress to paralysis and respiratory failure requiring a ventilator.
8. A high index of suspicion in the presence of nonspecific symptoms is important for diagnosis. A family history of porphyria, female sex, onset during the luteal phase of the menstrual cycle, or recent use of a porphyrinogenic drug may be diagnostic clues.
9. A new diagnosis of porphyria as the cause of acute symptoms must be substantiated by finding a substantial increase in urine porphobilinogen (PBG).
10. Treatment should start promptly after the diagnosis is made. Mild attacks are sometimes treated with glucose loading (e.g. 3L of 10% glucose daily by vein).
11. Most acute attacks should be treated with hemin (Panhematin®, Recordati Rare Diseases at: www.recordatirarediseases.com or 866-654-0539) 3-4mg/kg into a large peripheral vein or venous access port daily for 4 days. Reconstituting Panhematin® with human serum albumin rather than sterile water is recommended prior to infusion. This helps prevent phlebitis at the site of intravenous infusion.
12. Hospitalization is usually required for symptomatic treatment of pain, nausea and vomiting, correction of electrolyte imbalance and observation for respiratory impairment, either to a general medical service or ICU.

Thursday, October 25, 2018

Pediatrics & EPP

Share your article!

Dear Dr. Balwani,
We are pleased to let you know that the final version of your article Diagnostic Delay in Erythropoietic Protoporphyria is now available online, containing full bibliographic details.
To help you access and share this work, we have created a Share Link – a personalized URL providing 50 days' free access to your article. Anyone clicking on this link before December 11, 2018 will be taken directly to the final version of your article on ScienceDirect, which they are welcome to read or download. No sign up, registration or fees are required.
Your personalized Share Link:
https://authors.elsevier.com/a/1Xx5s55CrsSvu
Click on the icons below to share with your network:

Wednesday, October 24, 2018

WRITTEN ALL OVER HIS FACE: RARE DISEASE OFFERS CLUES TO HOW WE READ EMOTIONS

WRITTEN ALL OVER HIS FACE: RARE DISEASE OFFERS CLUES TO HOW WE READ EMOTIONS

People who feel what they see offer clues about how we read emotions and empathize
  • Understanding the thoughts and feelings of other individuals is essential for navigating the social world. But empathy is a complex process, based in part on fleeting facial expressions. Research suggests that we empathize by effectively putting ourselves in others’ shoes: for example, when we observe someone feeling sad, we simulate their experience by activating the same regions of the brain that are involved when we feel sad ourselves.
A study in the Journal of Neuroscience in February bolsters this idea using rare individuals with “mirror-touch synesthesia.” When watching another individual being touched, these people actually feel a touch on the same part of their own body. Neuroscientist Michael Banissy and his colleagues at University College London tested whether this heightened ability to simulate another person’s experience would cause eight mirror-touch synesthetes to excel at recognizing the emotions embedded in facial expressions. They did, correctly identifying 92 percent of the facial expressions tested compared with the 81 percent identified by control subjects. Their success probably stemmed from their simulation expertise rather than a general agility with faces because further experiments showed they were no better than controls at recognizing a person’s identity.
For the rest of us without mirror-touch syn­esthesia, the simulation process is the same but less pronounced, Banissy says. So the next time you find yourself sympathizing with someone who looks sad, thank the part of your brain that feels you frown.
I enjoyed reading this over, when we face trials, illness, over outward expressions can speak volumes and usually we say were doing ok or good!  So be honest with how you feel!
Thanks to Michele for letting me pass this on to you.

The Porphyria story of Victor LaFae with HCP

Porphyria story - HCP - Victor LaFae I’m told that I was a typical happy baby for the first few months of my life. I reached all my mile...