Tuesday, November 27, 2012

Book News! Show your support and read a great book.





BULLETIN.......

APF  Patient Meeting In Atlanta Is Fast Approaching!


Saturday, December 8th 2012
10:00 AM - 12:00 PM
Hampton Inn Atlanta-Buckhead
3398 Piedmont Road NE
Atlanta, Georgia 30305
RSVP to Yvette at porphyrus@aol.com  or  call 1.866.APF.3635


For more information about the meeting go to: 
http://www.porphyriafoundation.com/news/APF-Patient-Meeting-Atlanta


We hope to see you there!

______________________
  
 BOOK  NEWS.........
"What Happened To Mr. Bennett?"
Daughter of a Man who lived with CEP writes a book about her father to bring awareness to Porphyria.
  Monica Bennett Firchow has written a book about her father , Gene Bennett, who had CEP.   It is a fascinating story of a man who lived life to the fullest despite the tragic impairment from CEP.  Disregarding Gene's severe photosensitivity and subsequent devastating skin damage, Gene was a rancher, pilot, sports and dog show photographer, parishioner, not to mention a wonderful friend, husband and father.  He was a man to be admired. 
  You can help Monica get attention for her book by visiting her website and reading about Gene @ http://genebennett.net, and clicking the "like" button at the top of the website. Please show your encouragement and support by visiting "What Happened To Mr. Bennett?"  fb page by clicking here.  Be sure to click the "like" button at the top of the page.          Your comments will be sincerely appreciated and are also needed to show the editor that people are interested in the porphyrias. 

Monday, November 26, 2012

A glimpse into a Doctors efforts to help someone with a Rare Disease


We would like you to read about Dr. Jeremy Latimer and his experience so far with medical schooling and his personal challenge in helping a patient get tested for Porphyria and to find them to help them.  I would like to first of by stating we appreciate your time and efforts to help support patients with rare diseases.  Here is Dr. Latimer's background.
 As for my background. I am a 35 year old resident in Internal Medicine at Florida State University/Tallahassee Memorial Hospital.  I became interested in the Porphyria a little over a year ago when one of my patients displayed all of the classic signs of acute intermittent porphyria. I decided to seek out patients with Porphyria on Facebook, to learn more about the disease and to answer questions in regards to patients' experiences that can't be found in textbooks. Unfortunately, by the time I had become convinced that my patient may have AIP, he had checked out of the hospital AMA due to frustration.  It seems to be a common theme with many porphyria patients, and one of the reasons I feel it is important to remain involved with the people I met through Facebook.  Many porphyria patients feel alienated from the medical community, and it is my hope that in time, this perception can be absolved.  As for my patient, I've tried to locate the him nearly every way I can think of, and he is nowhere to be found.  It appears that he may have been an undocumented immigrant, so I just pray that he finds the help he needs someday.  I left educational packets that I obtained from the APF in emergency rooms of several hospitals near the area that I worked at, with a letter asking physicians to keep a look out for him, so that if he indeed does have an acute porphyria, he can receive the care that he needs.  

As for my background. I began my career in medicine somewhat late in life. After beginning college as a piano performance major, I switched to psychology at the University of Florida. During my senior year of college, I began volunteering at Shands hospital for one of the classes I was taking, and also took part in research for neuroscience at the UF McKnight Brain Institute. I fell in love with working with patients, and decided to start a new career path the last semester of my senior year of college.  Before returning to UF to complete all of the pre-requisite coursework that I would need for medical school, I spent a year teaching earth space science in Jacksonville Florida, and then started graduate school in genetics at the University of Florida. In graduate school, I made the decision to take all of the pre-medical coursework alongside the coursework needed to obtain a masters in genetics. Halfway through my graduate program however, I made the tough decision not to finish my masters and apply to school in the US as I had originally planned. Rather, after completing all of the pre-requisite course work for medical school, I switched gears and left my graduate program to begin medical school at Ross University in the Caribbean. I immediately fell in love with the academic side of medicine and found the challenge to be everything that I had hoped that it would be. I spent two years studying in Dominica, and then completed my last two years of medical school rotating in various hospitals in Chicago. I then applied for residency in Internal Medicine with the intent of pursuing a career in critical care medicine. I completed medical school in the early spring of 2012, and before beginning my residency at FSU later that summer, I took a faculty position back at Ross University in Dominica for one semester, teaching clinical skills and biochemistry to first and second semester medical students at Ross.  My hope is to complete my residency at FSU, and undertake a fellowship at an academic medical center where meaningful research for the porphyrias is being conducted. I would like to contribute to the academic literature surrounding the many questions that we still have about this group of diseases, with the hope that one day, we will find a way to ease, or even cure, the damage that it causes to the human body. My hope is that one day, porphyria patients can lead the normal, pain-free lives that I believe everyone is entitled to have.
Thank you so very much for all of your fine efforts to help people who may have a rare disease such as porphyria.  I can speak from experience that waiting and hoping for proper testing, diagnosis, treatment, having proper knowledge of Porphyria for self and finding a willing Doctor to think outside the box and do what is best for the patient. 

Picture is Desiree Lyons and Jeremy Latimer

Extremly Important~ National Porphyria Registry

Your participation in the national Porphyria Registry is EXTREMELY Important to Porphyria research.  The Registry is NOT the same thing as joining the APF, instead, it is a site which goes directly to the Porphyria Consortium of experts.

We NEED Your participation!  We are in need of Acute Porphyria Patients to join.  So if you have Acute Porphyria please visit www.porphyriafoundation.com and click on Porphyria Registry and  follow the instructions, it takes but just a few moments of your time.
Once you register you will be contacted by phone or email to answer additional questions to verify your participation in the studies.  Participation in research does not mean you have to take any experimental drugs, rather you can answer questions about porphyria. 

 These research projects are critical to your care now but in the future for family members or someone you know.  These projects also determine the incidence of porphyria in the US.

So now it's up to you!  Will you do your part it does not cost you anything.  We know your busy every day and we hope that you will participate before it is to late.  

Remember RESEARCH & YOUR HELP is the KEY!

Monday, November 19, 2012

Important We NEED YOU!


  • The Porphyria Research Consortium met in Boston last week. They are involved in much research for every type of porphyria. In addition, they told me that they really need more patients to register on the registry (this is a means for us to tell the govt that we need research funds) and to answer the research questions. There is a second set of questions posted, too, that they need everyone registered to answer as part of the long study 5 years.


    • www.porhyriafoundation.com 


      or call 866-apf-3635


Friday, November 16, 2012

APF Patient Meeting In Atlanta! Can you be there?

APF Patient Meeting in Atlanta!

Saturday, December 8, 2012

10:00 AM to Noon
With Renown Porphyria Expert
Dr. John D. Phillips
Location to be Announced Shortly via Enews

*  Opportunity to Participate in a Q & A Session with a Porphyria Expert
*  Meet other Porphyria Friends Who Share Your Experiences
*  View the Latest APF Educational Materials

RSVP to Yvette, porphyrus@aol.com or Call the APF Office 1.866.APF.3635
Seating is Limited


VOLUNTEERS NEEDED
  
For the APF Exhibit Booth
At the "American Society of Hematology" Convention - ASH
Georgia World Congress Center, Atlanta, Georgia
December 8 - 11, 2012


As a volunteer, you will distribute medical information to the 8,000 doctors and other health professionals who attend this prestigious convention. This is a wonderful opportunity for APF members in the Atlanta area to support the need to educate physicians about porphyria. Together we can enhance awareness and education of the porphyrias.  
If you would like to be a part of this exciting opportunity, please E-mail Yvette,porphyrus@aol.com or call the APF, 713.266.9617.
For more information on the ASH convention, go to: http://www.porphyriafoundation.com/events/2012-ASH-APF-Exhibit


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


Wednesday, November 14, 2012

Boston Meeting Notes~ From Desiree Lyons


The Boston meeting was a wonderful opportunity to help people who wanted to understand porphyria better and to help them with their own cases, as well as for those who wanted to gain a correct diagnosis.

The meeting, hosted by the APF and Dr. Peter Tishler, was held in the Shapiro board room of the Brigham and women’s hospital in Boston.  After everyone introduced themselves, Dr. Tishler, who is a porphyria expert/genetics at Harvard, gave a presentation about the porphyria and then opened the floor to the attendees to discuss their cases and ask pertinent questions that we hear very often.  For example, people everywhere have trouble finding primary care physicians and emergency rooms doctors who are knowledgeable about the porphyrias.  Treatment and diagnosis questions also abounded.  Dr. Tishler gave the attendee excellent suggestions for each of their situations, as well as clarified much misinformation about diagnosis and treatment.  The PBG urine test for the acute porphyrias was discussed a great deal because physicians often order "porphyrins" instead of PBG as first line tests for acute porphyrias.  He also reviewed the second line blood and stool tests to determine the type of porphyria.  

Dr. Herbert Bonkovsky, porphyria expert from the Carolinas Medical Systems in Charlotte, NC, also made a presentation about the many research projects of the Porphyria Research consortium, as well as helped answer the many questions from patients and their families. He also updated the attendees on the need to join the Porphyria National Registry and the Longitudinal Study by going to the National Registry section on the APF website www/porphyriafoundation.com , as well as the EPP Phase III trials.   Desiree attended the meeting, too, and offered the questions she hears from patients aside from those involving diagnosis and treatment.  Namely, patients asked about why heme arginate/Normosang has not come to the USA yet and what prevented FDA approval in the USA.   Dr. Bonkovky explained that the blood bank in Finland where heme arginate is manufactured would not allow an FDA inspection and did not have the stringent FDA requirements in the US manufacturing plants for biologics, like heme arginate and Panhematin.   This blood bank issue prevented the FDA from approving heme arginate entry despite the lengthy attempts of Dr. Bonkovsky, Dr. Anderson and Desiree... 

Another issue discussed is women being prescribed hysterectomies to stop menstrual related attacks.  The doctors suggested having the primary care physician speak with      
An expert before performing this surgery. In addition, Desiree mentioned that many patients wanted to know about the safe and unsafe drug list and how to print and access it and how to get physicians to pay attention to the list and data on the website, like the PCP and ER Guidelines.  She suggested that her foremost suggestions were to develop an excellent relationship with a local physician.  Once that relationship is solid, the doctors are more likely to consult with experts and read the materials developed by doctors.  Understanding that this is not always possible and that some doctors do not know about porphyria and are not interested in caring for these complex cases, she asked the attendees to contact the apf for help locating the APF for help.  The APF has a list of treating physician around the country...  They are not experts but are willing to take a patient and work together. 

Another topic of topic of interest was genetics of porphyria.  Dr. Tishler gave an overview of the genetics of each of the porphyrias and an explanation of why porphyria occurs and what happens with each porphyria.   Dr. Bonkovsky added information about the DNA tests performed at Mount Sinai in NYC.  

The APF will be facilitating more of these patient meetings.  The next one will be in Atlanta, Saturday Dec 8, 2012 from 10 AM till 12.  Location to be announced.  Please RSVP to the APF ASAP...   porphyrus@ol.com   

Wednesday, November 7, 2012

The APF has been working with a rare disease coalition to assure patients of their rights to view their test results. below is our position Our position.

The APF has been working with a rare disease coalition to assure patients of their rights to view their test results. below is our position 
Our position. We fully support the proposed Rule. Our reasons include:

• First and foremost, granting patients direct and timely access to test results will
improve clinical care and patient outcomes. Patients can respond faster and more
appropriately when they learn their test results quickly. For example, it is not unusual
that the appropriate response to a particular lab result is to make an appointment with
a relevant specialist or take other actions. But difficulties in reaching the ordering
doctor may unnecessarily delay appropriate next steps, as well as create unnecessary
stress during the “phone tag” period.

• Even worse, some patients are being harmed by never learning of their lab results.
Approximately 7% of clinically significant test results – tests that would have a
potential impact on clinical care – are never reported to patients, potentially delayi
or preventing important treatment decisions and causing harm.

5 Giving patients direct
access to their results would help reduce the number of test results lost entirely.

• We do not think that patients’ direct receipt of their own lab results will cause them to
suffer undue emotional harm, particularly since a provider can communicate promptly
to provide context and interpreta tion. Some health systems have, in fact, found the
opposite to be true; Kaiser Permanente has shown that delivering lab results online
directly to patients in a timely fashion improves provider/patient relationships.

In fact, even the availability of clinical notes written by one’s physician has been recently
shown to have minimal negative effects and significant positive outcomes. The results
from three different health systems showed that patients accessed notes frequently, a
large majority reported clinically relevant benefits and minimal concerns, and doctors
reported a negligible increase in workload. No doctors elected to stop sharing their
notes with patients and 99% of patients wanted the practice to continue.
 7
• A common reason for requesting one’s lab results is often, somewhat ironically, so that
they can be handed directly to a specialist or a new provider, especially when the
circumstances are urgent. Patients can only deliver what they possess. If patients
routinely access and save their lab results, they’ll be available quickly in emergencies.
As stated recently by Lygeia Ricciardi, acting director of the Office of the National
Coordinator’s Office of Consumer eHealth, “We want people to think about being
empowered with information before that crisis hits.
8
• The clinical consequences of timely, direct access to one’s health information are
significant. Todd Park, the federal Chief Technology Officer, recently explained, “When
patients have timely access to their records, they can spot errors and omissions, which
improves treatment outcomes and helps them avoid unnecessary procedures. Getting
access to your own data isn’t an abstract thing. It can literally make the difference
between life and death.
”9
• The proposed Rule would help save money for our overburdened health care system.
When patients cannot easily obtain and save copies of lab results and procedures, and
thus cannot quickly share them with other providers, expensive tests and procedures
often must be unnecessarily repeated.

APF Meeting in Atlanta. Can you help?

APF Patient Meeting , Saturday, December 8, 10 am to Noon.  
The Exact location in Atlanta to be announced shortly.  
Porphyria expert and researcher, Dr. John Phillips, from the University of Utah Porphyria Center will be speaking and answering questions.  More information to come.  
Circle the date and RSVP to the APF office.  713.266.9617.
We also need volunteers to help with the exhibit booth at the American Society of Hematology convention in Atlanta, December 8-11.   You will be distributing medical information to physicians and other health professionals.  
This is a great opportunity to help educate doctors about Porphyria on a grand scale.   
Your help is needed!

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

Monday, November 5, 2012

Dan Yelen's Paintball Explosion! Thank You for your support!


This past Sunday was possibly the roughest day ever for me to keep my composure. I couldn’t tell you how close I was to crying through out the day. I have never dealt before with the amounts of kindness shown to me, my mother, or the American Porphyria foundation. Multiple people went out of their way to help support those with Porphyria. This includes not just the players, but the event’s field host, and our donating sponsors as well.

Thank you, Tj Smash Andres and his awesome field, Paintball Explosion for hosting our benefit game. Without you this would have never happened. Also, thank you for donating your items that each included free admission passes for your field. Also, thank you to the Saints Pbteam for helping me advertise the event, as well as my team mates Chicago Heretics

Thank you to Valken Sports and Nicole Smith-Kinner, Matt Osborn and Aurora Oil & Lube, Punishers Paintball, LAPCO Los Angeles Paintball Company., The Chicago Hist
ory Museum, and Zach Fusco for all supporting our event and helping us run it smoothly, and for donating items to the raffle.

Thank you to our wonderful guests who played this sunday and also to those who also participated in our raffle. Together you raised over $850 dollars through the raffle alone. I have to yet currently go over how much we raised in whole, after the entry fee's other contributions, but the fact remains that you all contributed to a foundation that appreciates all your kindness and will not forget that.

Paintball Explosion has already told me they would gladly host this event again, so I have already began thinking about how to make this bigger and better next year!

Once again, thank you, everyone for all your kindness, donations, and help in making November 4th a success. You all, moved me, and I will never forget that.   

So if you think you would like to Donate, make Up an Event, Raise Money for the APF!
 Please contact them at 1-866-APF-3635


Thank YOU EVERYONE!

Thursday, November 1, 2012

Time Change Fall Back!

Please don't forget to FALL BACK 1 Hour this Sat. PM

Change your phones, clocks and alarms.

Read about Darlene Folkes & PCT


Darlene Folkes



A New Doctor, and Help for PCT
Darlene Folkes is 44 years old, married, with two children. She lives on beautiful eastern Long Island, New York, which pokes out past the Long Island Sound and towards the Atlantic Ocean. Living out there, having two children to look out for, and working as teaching assistant in a local school Darlene has plenty of opportunities to be exposed to the sun.
Darlene FolkesExposure to the sun eventually marked Darlene's symptoms unambiguously last Spring, but they started before that, with tea-colored urine, prompting her primary care physician to send her to a rheumatologist to be evaluated for possible lupus. While she was seeing the rheumatologist, her primary care physician became concerned about her gallbladder. It was in the process of getting ready to have her gallbladder removed that Darlene started getting a lot more exposure to the sun.
Wanting to lose a little weight and get in better physical condition, she started spending more time walking out of doors. This was in May of 2008, and that was when her blisters started forming — prickly bumps on the backs of her hands that turned into half-dollar sized blisters that refused to heal. The blisters were very painful and getting worse, prompting her doctors to consider some sort of sun allergy or other allergic reaction.
Finally, Darlene visited an urgent care clinic, where doctors did a smear of the blisters and sent her to a dermatologist, who did a skin biopsy, and diagnosed her with Porphyria Cutanea Tarda (PCT). Her age makes Darlene typical of PCT patients — the disease gets the name tarda (Latin for "late") because patients usually do not experience symptoms before they are in their 40s.
Once she had a diagnosis of Porphyria, Darlene found out about the Mount Sinai Porphyria Clinic (in New York City, three hours from her home) through a friend of her aunt who had heard of Dr. Lawrence Liu, one of two doctors who staffs the clinic. She describes meeting Dr. Liu for the first time as an almost revelatory experience, calling him "a breath of fresh air," for his compassionate bedside manner, and for being the first doctor she encountered who really understood Porphyria and took an interest in all of its effects on her. Dr. Liu was also the person who let Darlene know about the existence of the APF.
Since then, Darlene has become an APF member and started receiving the newsletter, and has carefully followed Dr. Liu's advice to avoid the sun while her blisters heal, and to avoid alcohol entirely. Her local doctor was unfamiliar with treatments beyond phlebotomy for PCT, and did not want to remove any of her blood as her counts were already low. Dr. Liu started her on low-dose chloroquine (taken in pill form), which was improving her symptoms somewhat when we spoke. Dr. Liu also did a biopsy of her liver and found out that she fortunately suffers none of the liver damage that sometimes affects PCT patients. The liver biopsy was something she had asked her local doctors about with no reaction.
In addition to the blisters, Darlene had the additional hair growth on her face and legs that is characteristic of PCT. But she says the worst part is having blisters on her hands, because "you do everything with your hands," making it easy to reinjure them, and hard for them to heal. Working with children, and not wanting to make waves at work or air her problems in public, Darlene tried strenuously to protect herself from the sun while doing playground duty while the kids were at recess. She wore gloves and big hats, and tried to watch the kids from the shady portions of the schoolyard. She is lucky enough to have a school principal who asked about her out of concern and has now adjusted her responsibilities so that she can stay out of the sun.
On her way to diagnosis, Darlene had a surgery she now believes could have been avoided with proper treatment of her PCT, and in addition to suffering symptoms of the disease itself, she has lived with the stress and grief of symptoms her doctors would not recognize. In this new, hopeful period in her life, now that her care is being guided by an expert, she speaks about having newly increased sympathy for the difficulties that elderly and infirm people suffer. It is our hope that with appropriate treatment and precautions, Darlene will achieve a complete recovery from her own illness, and that her newfound sympathy for others will no longer have to be accompanied by her own suffering!

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...