Thursday, March 29, 2018

Spread the WORD! Porphyria Awareness Week will be held on April 21-28, 2018


Porphyria Awareness Week will be held on April 21-28, 2018. We strive to dedicate this week to promote this group of rare diseases, reduce the stigma associated with porphyria through physician education, and provide support for those affected.

National Porphyria Awareness Week is the time for you to bring porphyria awareness to your local communities. We, at the American Porphyria Foundation, encourage You to help raise awareness and provide accurate information about porphyria where you live. The APF will help you accomplish your own activity by providing:

• Porphyria Brochures
• Porphyria Fact Sheets
• PorphyriaLive DVDs
• Information to gain media attention
• PowerPoint presentations,
• Porphyria Awareness week Graphics for Print, Web, and Social media (See downloads below)
• Press releases for local newspapers and television and Much More!
Contact Edrin at the APF office today to request information to be sent to you!

1.866.APF.3635 or email: edrinw@porphyriafoundation.org


Downloads:
To get the downloads go to: http://www.porphyriafoundation.com/content/porphyria-awareness-week-2018

U.S.: Porphyria Awareness Week complete package Includes (each packet can also be downloaded individually)

Print Packet
Web Packet
Social Media Packet: Facebook, Twitter, and Instagram
Email Signatures
Complete Package


International Porphyria Awareness Week Complete package includes (each packet can also be downloaded individually):

Print Packet
Web Packet
Social Media Packet: Facebook, Twitter, and Instagram
Email Signatures
Complete Package

Friday, March 23, 2018

Hospital Opioid Shortages Cause Pain & Medical Errors

Hospital Opioid Shortages Cause Pain & Medical Errors

By Pauline Bartolone, Kaiser Health News
Even as opioids flood American communities and fuel widespread addiction, hospitals are facing a dangerous shortage of the powerful painkillers needed by patients in acute pain, according to doctors, pharmacists and a coalition of health groups.
The shortage, though more significant in some places than others, has left many hospitals and surgical centers scrambling to find enough injectable morphine, Dilaudid and fentanyl — drugs given to patients undergoing surgery, fighting cancer or suffering traumatic injuries. The shortfall, which has intensified since last summer, was triggered by manufacturing setbacks and a government effort to reduce addiction by restricting drug production.
As a result, hospital pharmacists are working long hours to find alternatives, forcing nurses to administer second-choice drugs or deliver standard drugs differently. That raises the risk of mistakes — and already has led to at least a few instances in which patients received potentially harmful doses, according to the nonprofit Institute for Safe Medication Practices, which works with health care providers to promote patient safety.
In the institute’s survey of hospital pharmacists last year, one provider reported that a patient received five times the appropriate amount of morphine when a smaller-dose vial was out of stock. In another case, a patient was mistakenly given too much sufentanil, which can be up to 10 times more powerful than fentanyl, the ideal medication for that situation.
bigstock-Medical-Team-Working-On-Patien-55984199.jpg
In response to the shortages, doctors in states as far-flung as California, Illinois and Alabama are improvising the best they can.
Some patients are receiving less potent medications like acetaminophen or muscle relaxants as hospitals direct their scant supplies to higher-priority cases.
Other patients are languishing in pain because preferred, more powerful medications aren’t available, or because they have to wait for substitute oral drugs to kick in.
The American Society of Anesthesiologists confirmed that some elective surgeries, which can include gall bladder removal and hernia repair, have been postponed.
In a Feb. 27 letter to the U.S. Drug Enforcement Administration, a coalition of professional medical groups — including the American Hospital Association, the American Society of Clinical Oncology and the American Society of Health-System Pharmacists — said the shortages “increase the risk of medical errors” and are “potentially life-threatening.”
In addition, “having diminished supply of these critical drugs, or no supply at all, can cause suboptimal pain control or sedation for patients,” the group wrote.
The shortages involve prefilled syringes of these drugs, as well as small ampules and vials of liquid medication that can be added to bags of intravenous fluids.
Drug shortages are common, especially of certain injectable drugs, because few companies make them. But experts say opioid shortages carry a higher risk than other medications.
Small Mistakes Lead to Big Errors
Giving the wrong dose of morphine, for example, “can lead to severe harm or fatalities,” explained Mike Ganio, a medication safety expert at the American Society of Health-System Pharmacists.
Calculating dosages can be difficult and seemingly small mistakes by pharmacists, doctors or nurses can make a big difference, experts said.
Marchelle Bernell, a nurse at St. Louis University Hospital in Missouri, said it would be easy for medical mistakes to occur during a shortage. For instance, in a fast-paced environment, a nurse could forget to program an electronic pump for the appropriate dose when given a mix of intravenous fluids and medication to which she was unaccustomed.
“The system has been set up safely for the drugs and the care processes that we ordinarily use,” said Dr. Beverly Philip, a Harvard University professor of anesthesiology who practices at Brigham and Women’s Hospital in Boston. “You change those drugs, and you change those care processes, and the safety that we had built in is just not there anymore.”
Chicago-based Marti Smith, a nurse and spokeswoman for the National Nurses United union, offered an example.
“If your drug comes in a prefilled syringe and at 1 milligram, and you need to give 1 milligram, it’s easy,” she said. “But if you have to pull it out of a 25-milligram vial, you know, it’s not that we’re not smart enough to figure it out, it just adds another layer of possible error.”
During the last major opioid shortage in 2010, two patients died from overdoses when a more powerful opioid was mistakenly prescribed, according to the institute. Other patients had to be revived after receiving inaccurate doses.
DEA Reduced Opioid Supply
At the same time, in an attempt to reduce the misuse of opioid painkillers, the Drug Enforcement Administration called for a 25 percent reduction of all opioid manufacturing last year, and an additional 20 percent this year.
“DEA must balance the production of what is needed for legitimate use against the production of an excessive amount of these potentially harmful substances,” the agency said in August.  When the coalition of health groups penned its letter to the DEA last month, it asked the agency to loosen the restrictions for liquid opioids to ease the strain on hospitals.
The shortages are not being felt evenly across all hospitals. Dr. Melissa Dillmon, medical oncologist at the Harbin Clinic in Rome, Ga., said that by shopping around for other suppliers and using pill forms of the painkillers, her cancer patients are getting the pain relief they need.
Dr. Shalini Shah, the head of pain medicine at the University of California-Irvine health system, pulled together a team of 20 people in January to figure out how to meet patients’ needs. The group meets for an hour twice a week.
The group has established workarounds, such as giving tablet forms of the opioids to patients who can swallow, using local anesthetics like nerve blocks and substituting opiates with acetaminophen, ketamine and muscle relaxants.
“We essentially have to ration to patients that are most vulnerable,” Shah said.
Two other California hospital systems, Kaiser Permanente and Dignity Health in Sacramento, confirmed they’re experiencing shortages, and that staff are being judicious with their supplies and using alternative medications when necessary.
At Helen Keller Hospital’s emergency department in Sheffield, Ala., earlier this month, a 20-year-old showed up with second-degree burns. Dr. Hamad Husainy said he didn’t have what he needed to keep her out of pain.
Sometime in January, the hospital ran out of Dilaudid, a drug seven times more potent than morphine, and has been low on other injectable opioids, he said.
Because Husainy’s patient was a former opioid user, she had a higher tolerance to the drugs. She needed something strong like Dilaudid to keep her out of pain during a two-hour ride to a burn center, he said.
“It really posed a problem,” said Husainy, who was certain she was in pain even after giving her several doses of the less potent morphine. “We did what we could, the best that we could,” he said.
Bernell, the St. Louis nurse, said some trauma patients have had to wait 30 minutes before getting pain relief because of the shortages.
“That’s too long,” said Bernell, a former intensive care nurse who now works in radiology.
Dr. Howie Mell, an emergency physician in Chicago, said his large hospital system, which he declined to name, hasn’t had Dilaudid since January. Morphine is being set aside for patients who need surgery, he said, and the facility has about a week’s supply of fentanyl.
Mell, who is also a spokesman for the American College of Emergency Physicians, said some emergency departments are considering using nitrous oxide, or “laughing gas,” to manage patient pain, he said.
When Mell first heard about the shortage six months ago, he thought a nationwide scarcity of the widely used drugs would force policymakers to “come up with a solution” before it became dire.
“But they didn’t,” he said.
Kaiser Health News is a nonprofit news service covering health issues. It is an editorially independent program of the Kaiser Family Foundation, which is not affiliated with Kaiser Permanente.

Wednesday, March 21, 2018

NEWS! CLINUVEL HOLDS EUROPEAN ERYTHROPOIETIC PROTOPORPHYRIA (EPP) EXPERT MEETING

CLINUVEL HOLDS EUROPEAN ERYTHROPOIETIC PROTOPORPHYRIA (EPP) EXPERT MEETING

• Expert porphyria physicians and medical staff from 12 European countries were represented
• First PASS1 analyses: 13 months of data from adult EPP patients receiving SCENESSE® collected through the European EPP Disease Registry
• Unchanged safety profile of SCENESSE® as per SmPC²
• Clinical effectiveness: continuation on treatment by 99% of patients
• 61% of patients were treatment naïve (no previous exposure to afamelanotide)
• Over 16% of patients requested start of treatment in autumn and winter months
• Positive evaluation by physicians and patients on therapeutic benefit
• Requests for an afamelanotide formulation for the paediatric EPP population

Melbourne, Australia and Leatherhead, UK, 19 March 2018

CLINUVEL PHARMACEUTICALS LTD (ASX: CUV; XETRA-DAX: UR9; NASDAQ INTERNATIONAL DESIGNATION: CLVLY) today announced the results of the third European meeting on erythropoietic protoporphyria (EPP) held in Vienna, Austria, on Friday 16 March.

Physicians and medical staff from 12 countries and 21 European EPP expert centres discussed the ongoing treatment of adult patients diagnosed with EPP, the post-authorisation obligation for collection of pseudonymised data (patients’ identifying details are coded), and the clinical relevance of the treatment with SCENESSE® (afamelanotide 16mg).

EUROPEAN POST-AUTHORISATION SAFETY STUDY (PASS)
CLINUVEL is required to conduct a post-authorisation safety study (PASS), as agreed with the European Medicines Agency (EMA) in October 2014, capturing data on the ongoing safety and use of SCENESSE® in adult EPP patients participating in the European EPP Disease Registry (EEDR).

Initial formal analyses of data from the EEDR consisted of approximately 34,000 patient-days- exposure to treatment between 22 June 2016 and 30 June 2017. The data showed an unchanged safety profile for SCENESSE® compared to the Summary of Product Characteristics (SmPC).

As one of the measures of clinical effectiveness it was found that, as of 30 June 2017, 99% of the EPP patients were still continuing treatment. Further analyses of clinical effectiveness are being conducted for those EPP patients who continue treatment and those who received their first treatment after 30 June 2017.

Of interest was that 61% of the patients receiving SCENESSE® had been ‘treatment naïve’ prior to participating in the PASS, in that they had not received afamelanotide during CLINUVEL’s clinical trial program from 2005 to 2013, or through compassionate use or special access schemes.

Following the initial data presented during the European expert meeting discussions were held on the overall clinical experience with the medicinal drug. The general observations from the attending medical staff was that SCENESSE® provided therapeutic value under real-world conditions and that it enabled EPP patients to engage in daily activities which had not been previously possible. None of the attending porphyrinologists declared a conflict of interest and all provided an opinion in an independent capacity.

Of particular interest was that under conditions of use, 16% of the EPP patients sought treatment during the autumn and winter months. Medical staff from the expert centres expressed that a higher number of parents and carers had requested afamelanotide treatment for children diagnosed with EPP since the treatment for adults had been made available.
In the coming year CLINUVEL intends to discuss with the EMA suggested changes to the SmPC, in particular to widen the recommended maximum dosing of SCENESSE® per calendar year.

COMMENTARY
“The feedback on real-life clinical experiences from EPP patients and physicians is very important to us and provides significant information for future development,” CLINUVEL’s Director of Clinical Affairs, Dr Emilie Rodenburger said. “The efforts of physicians and medical staff to treat patients under the strictly imposed post-authorisation measures need to be acknowledged. It is highly motivating and satisfying to learn first-hand the impact of the work done by CLINUVEL’s team in assisting patients who had not been clinically attended before. I also take away from this meeting how much experts have appreciated our team’s ability to persevere under all circumstances.”

- End –

1 SCENESSE® (afamelanotide 16mg) is approved in Europe as an orphan medicinal product for the prevention of phototoxicity in adult patients with EPP. A post-authorisation safety study (PASS) has been implemented to capture data on the ongoing use of SCENESSE® in European EPP expert centres, with other measures agreed under a Risk Management Plan for SCENESSE®. Information on the product can be found on CLINUVEL’s website at www.clinuvel.com.

2 The SCENESSE® Summary of Product Characteristics (SmPC) is available on CLINUVEL’s website.

About CLINUVEL PHARMACEUTICALS LIMITED
CLINUVEL PHARMACEUTICALS LTD (ASX: CUV; NASDAQ INTERNATIONAL DESIGNATION ADR: CLVLY; XETRA-DAX: UR9) is a global biopharmaceutical company focused on developing and delivering treatments for patients with a range of severe genetic and skin disorders. As pioneers in understanding the interaction of light and human biology, CLINUVEL’s research and development has led to innovative treatments for patient populations with a clinical need for photoprotection and repigmentation. These patient groups range in size from 5,000 to 45 million worldwide. CLINUVEL’s lead product, SCENESSE® (afamelanotide 16mg), was approved by the European Commission in 2014 for the prevention of phototoxicity (anaphylactoid reactions and burns) in adult patients with erythropoietic protoporphyria (EPP). More information on EPP can be found at http://www.epp.care
Headquartered in Melbourne, Australia, CLINUVEL has operations in Europe, Switzerland, the US and Singapore.
For more information go to http://www.clinuvel.com.

SCENESSE® is a registered trademark of CLINUVEL PHARMACEUTICALS LTD.

Media enquiries
Lachlan Hay, CLINUVEL (UK) LTD,     +44 1372 860 765     Lachlan.Hay@clinuvel.com

Investor enquiries
InvestorRelations@clinuvel.com

Forward-Looking Statements
This release to the Australian Securities Exchange and to press may contain forward-looking statements, including statements regarding future results, performance or achievements. These statements involve known and unknown risks, uncertainties and other factors which may cause CLINUVEL’s actual results, performance or achievements to be materially different from any future results, performances or achievements expressed or implied by the forward-looking statements. These statements reflect our current views with respect to future events and are based on assumptions and subject to risks and uncertainties. Given these uncertainties, you should not place undue reliance on these forward-looking statements. Some of the factors that could affect the forward-looking statements contained herein include: that the FDA may require additional studies beyond the studies planned for product candidates or may not provide regulatory clearances, including for SCENESSE®; that the FDA may not provide regulatory approval for any use of SCENESSE® or that the approval may be limited; that CLINUVEL may never file an NDA for SCENESSE® regulatory approval in the US; that the Company may not be able to access adequate capital to advance its vitiligo programs; that the Company may not be able to retain its current pharmaceutical and biotechnology key personnel and knowhow for further development of its product candidates or may not reach favourable agreements with potential pricing and reimbursement agencies in Europe and the US.
Level 6, 15 Queen Street       T +61 3 9660 4900      www.clinuvel.com
Melbourne, Victoria 3000       F +61 3 9660 4999
Australia

  • CLINUVEL PHARMACEUTICALS LTD today announced the results of the third European meeting on erythropoietic protoporphyria (EPP) held in Vienna, Austria, on Friday 16 March.

Sunday, March 18, 2018

EPP ~ Video Link From Clinuvel & Patient Member Story: Lauren Fabean

EPP

Video: https://vimeo.com/17178430

Lauren Fabean
Type of Porphyria: 
Erythropoietic Protoporphyria (EPP)
My name is Lauren Fabean, and I am a sun-hater! I enjoy rainy days and feel an immediate sense of relief when I see "considerable cloudiness" in a weather forecast. 
I was diagnosed with EPP at the age of 12. After enduring the worst reaction of my life while participating in a weekend softball tournament (I really hated playing softball, too!), my mom started seeking answers to what was happening to me and why, and the journey to my diagnosis began.
It took me a long time to get used to having EPP, and to learn what preventative measures worked for me. I also had to learn how much sunlight I could handle before a reaction set in. This was really hard. 23 years later, I still have days when I think I will be ok in a bit of sunlight, and the next thing I know I'm kicking myself for allowing a reaction to occur. 
This is what happens to me when I am exposed to too much sunlight for too long of a time period: I feel an intense burning sensation in my hands, feet, and/or face. When trying to cool the areas, I feel an extreme tingling sensation if I am applying something that is too cold. I need to find a happy medium. My skin is also very sensitive during this time; a simple bump or scrape against an object leaves a lasting, uncomfortable tingling sensation. A bad reaction can take days to go away. In the summer, even if I'm very careful, I have come to terms with the fact that I will always be living with a slight reaction here or there. Unless I want to just hide inside every day. 
What works for me: I am a firm believer in sunscreen, not just because of EPP, but because the sun is so damaging to our skin and it's so important to take care of it. I have spent a lot of money on good clothing with SPF and hats, and I can be seen carrying an umbrella (my "sunbrella" as I call it) at times. The best thing for me to do is simply stay away from the rays. 

I struggled a bit growing up, and did feel lonely at times. However, the worst part of having EPP in my adult life is the fact that I cannot play or swim with my daughter in the summer. I get to sit on the sidelines, hiding in my shade, while I watch my husband enjoy all of those things that I wish I could do.
This disease has taught me a lot. Most importantly, I realize that I am very lucky. There are many others who suffer far worse than I do when exposed to sunlight. EPP is mostly a huge inconvenience in my life, but it’s something that I’ve accepted. So, if you see me running desperately to the shade or hiding under my hats and umbrella, don’t feel bad for me or think I’m weird. That’s just me living with my “sun thing.” 

Thursday, March 15, 2018

PCT Link & Story of John Gladding and PCT


Pictures of Cutenaous Types: 


http://www.dermis.net/dermisroot/en/24078/diagnose.htm

John Gladding

Type of Porphyria: 
Porphyria Cutanea Tarda (PCT)
Back in late 2012, I kept getting these random, tiny blisters. When I finally said something to my primary care doctor, she looked at me and told me to quit smoking and guaranteed that the blisters will go away if I did. I should mention that the day I started going to her, she hounded me about smoking. I didn't quit smoking, but I did cut back. A few months later, I got mad at her, so she sent me to a dermatologist. I had a blister (luckily) on my finger at the time of visit. He dug it out for a biopsy and suspected I had Porphyria Cutanea Tarda (PCT). I went back 2 weeks later, and he said it was confirmed that I did have PCT. He then advised me that I was to avoid direct sunlight at all cost, told me to get some Neutrogena sunblock SPF 100+ for sensitive skin, and to invest in long sleeve t-shirts, gloves, hats, and scarves. He advised me to use the sunblock along with the "winter clothing" while I was living in Texas.  With the weather being 100° or higher on some days, it seemed to be difficult. I tried as much as I could. The blisters kept coming and increasing in size. I didn't have any health insurance at the time.
My PCP was at the HIV services in Fort Worth.  Since I was HIV+, that's where I went for HIV services. The dermatologist had told me I had very high iron, too much in my blood, and that a scheduled phlebotomy twice a month for 6-8 months would be the cure. Seems easy enough, right? He said he didn't do the phlebotomies and had gotten ahold of my PCP and she had told him that if they could get the supplies, then I could do the blood draws there, where I went for HIV services. In the meantime I quickly added private insurance coverage at the job I had. I was the 2nd shift lead caregiver/med passer/supervisor at an Alzheimer's and Dementia Assisted Living Community. A week or so later, my PCP told me they couldn't get the supplies for my phlebotomies, and I'd have to get a referral through the dermatologist. I did that, but insurance didn't cover it, which left me having to pay $250 twice a month for phlebotomies. There was absolutely no way I could have afforded that, and neither the PCP nor dermatologist put forth any effort to try and help me out or find other options. So, that left me to simply deal with it. Some time went by and things in my personal life changed, which resulted in me moving back to my home state of Michigan.
I was nervous of the HIV services here in Michigan (Lansing), because I rarely heard good things about them. However, they have been nothing but amazing. My PCP here quickly referred me to an oncologist at Sparrow Cancer Center in Lansing, MI. He instantly diagnosed me with Erythrocythemia, which is a more specific term for saying I have high red blood cell levels, and I told the oncologist that I was diagnosed with PCT in Texas. He told me that he could not diagnose me with that without first running tests or seeing a proof of diagnosis. His place was to do monthly phlebotomies, and I had told him that in Texas it was supposed to be twice a month. He said to start them monthly, for now. Meanwhile, my PCP wanted to diagnose me with Polycythemia. According to the doctors, the treatment, which would be phlebotomies, is the same for all three conditions. So I started my first phlebotomy back in June. I still wasn't happy that it was only once a month, so I demanded twice a month and the doctor agreed. So after 3 blood draws at going twice a month, my hemoglobin and red blood cell levels were HIGHER than when I had them tested in May, before the phlebotomies started. So starting tomorrow, August 1, 2015, I start phlebotomies twice a week, and they draw 450cc's, which is the amount they've been drawing all along. I should also add that I do have Hepatitis C that I acquired through a blood transfusion when I was born in 1979. I'm still a smoker and will be done by the end of the day today. Thanks for reading my short story.
~ John Gladding, PCT



Tuesday, March 13, 2018

“What I Wish I Knew”


“What I Wish I Knew”



When I was first diagnosed with Acute Intermittent Porphyria I was initially shocked.  I struggled with the news and then I pulled myself together.  I experienced many different emotions and often felt I would somehow make sense of it and get past it as soon as possible.  I wanted to power through it and get my life back again.  I closed myself off to lots of support along the way believing I shouldn’t ask for help or expose my “weaknesses.”  When I look back on it know, I realize though I am coping the best way I know how, there were so many things I wish I had known that would have made it easier for me, and probably my family and friends to. 

Knowledge is Power: What I wish I Knew
“I’m not going to talk to anyone about my Porphyria,” I said
Have you ever said that?
“Where can I Find Information”
I felt lost, scared, emotional, could my family really understand?
Did they want to understand? 
Did they believe me?  Did my Doctor even believe me?
Now that I understand what care is needed I asked myself?
Who am I going to find to Bring with ME? Do they want to go?  Will they support me.  Will they say I am crazy?
I have Never asked for Help Before!
It’s too hard trying to communicate with my family, friends with phone calls and texts while I’m so sick, why bother I asked myself?
Do I need a special group to go to?  They will think I’m nuts……
No Im just going to stay inside and sleep it off.
Is this stress, or anxiety, fear, am I going to die?

What am I going to do? Who will I turn to who will help me?
I often ask myself these things and it’s important to journal, talk to a trust friend and family member, pray, start searching and don’t stop until you get an answer good or bad, learn to be patient and kind.  Be firm when you should, be your own advocate! Teach, read, watch do all that you can so you can conquer correct your lifestyle do what you must do, so that at the end of the day you can say I have done my very best!  Don’t stop there.  Start all over when you wake up…..

Amy L Chapman
Acute Intermittent Porphyria
I will survive!

Thursday, March 8, 2018

Panhematin Patient Assistance Program

Panhematin Patient Assistance Program

IMPORTANT NOTICE!
If you have had problems receiving Panhematin treatment for any reason, please contact Desiree Lyon Howe, APF Executive Director, at lyonapf@aol.com .
Please note that there is a patient assistance program that was developed to help patients who experience issues with access to treatment and offers comprehensive assistance for insurance related issues.
Contact 1.866.209.7604 to access this program.

Below are a few problems that have been brought to our attention. We hope to help.
Some people have been admitted to the hospital expecting treatment and received none.
Some have been given only one vial instead of the usual 4.
Some have been told the treatment is too expensive to order or that it is only for very serious cases.
Some have standing orders for Panhematin and the orders were ignored.
Others have heard that Panhematin will take too long to arrive, when it can arrive within 16 hours of ordering.
Others have been told in the ER that there is nothing that can be done for their disease. 
The excuses to treat are plentiful. Please note that every attack can be serious and should be treated per the doctor. 
Please let us know your situation.

Upcoming Events
The APF Office will be closed on Monday, February 19, 2018 and will reopen for normal business hours on Tuesday, February 20, 2018.

Research
Givosiran Trials
The phase 3 trials for Givosarin have started. The purpose of this study is to evaluate the use of this medication to prevent or reduce attacks and symptoms in those with an acute porphyria (AIP, HCP, VP, ADP). If you are interested in participating for this exciting new trial, call Edrin at the APF 713.266.9617 or 1.866.APF.3635




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

Tuesday, March 6, 2018

Do you really understand your Porphyria?

Hello and welcome to the American Porphyria Foundation.  Many of you are NEW to the APF! Welcome!!!  We are so happy that you are here to learn about Porphyria disorder and how really rare YOU are.

 Our information and links provided are backed by Worldwide Porphyria Experts!  There are many modern day sites and theories about Porphyria and social media groups that may offer personal help or experience.  Caution should be used when looking at information and considering the source.  Ask yourself, Who gave this information to me?  Where did I read such?  Is this a patient themselves, an advocate or a medical professional?  

The more Research and time you put into knowing more about your disease you will benefit and learn the most!  As you read and talk to different ones in the medical community be prepared by writing down in advance your questions?  
Why are you asking this question? 

 Do I personally experience this problem?  

Talk to your Dr! 

 Be brief and to the point! If your physician is not aware about Porphyria please call our office we would be most happy to send a free comprehensive Dr Kit to them.  Our number is 1/866/APF/3635.

Here are a few links to help you be more informed:

http://www.porphyriafoundation.com/about-porphyria/types-of-porphyria/AIP

http://www.porphyriafoundation.com/about-porphyria/types-of-porphyria/VP

http://www.porphyriafoundation.com/about-porphyria/types-of-porphyria/HCP

http://www.porphyriafoundation.com/about-porphyria/types-of-porphyria/ADP

http://www.porphyriafoundation.com/about-porphyria/types-of-porphyria/PCT

http://www.porphyriafoundation.com/about-porphyria/types-of-porphyria/EPP-and-XLP

http://www.porphyriafoundation.com/about-porphyria/types-of-porphyria/CEP

http://www.porphyriafoundation.com/about-porphyria/types-of-porphyria/HEP


Basic Genetics




Friday, March 2, 2018

Meet Gregary Edwards with HCP

Gregary Edwards


Type of Porphyria: 
Hereditary Coproporphyria (HCP)
My name is Gregary Edwards, when I was 15 is when I noticed my first issues one morning I just could not get going, I thought I just had a bug and it would go away then I started to get electric shocks shooting all throughout my body in my muscles and my bones. I was getting so weak that I had to quit football as I could no longer keep up through the pain and weakness. I had good days and bad but I could never get back to what I was as a football player. After moving schools across country I felt better enough to go out for football again but that did not last. Things were fine for awhile but during my junior year things acted up again. The shocking came back so bad it would scare other kids in class with my jumping and jerking. It would bring tears to my eyes. One day during Trig class I zoned out and the teacher sent me to the office but I collapsed in the doorway for the first time ever. And for the first time ever I was taken to the ER. Where of course everything was normal and being just poor kid no doctor wanted to pursue anything else. I noticed that when I was the weakest I had started to have more and more abdominal pain and I would swing back and forth between severe constipation and diarrhea. My weakness was getting so weird; I seemed to be strong but my endurance was poor where it used to be high. I could start off doing anything with strength but soon I would end up shaking and trembling so bad I could no longer use the muscle. If I tried to push through it like they always say "no pain no gain", my muscles would give out completely and I potentially would loose control of them. It was like they weren't even connected to my body. Over the next ten years I would go through these bouts of getting completely out of it and back to fine again but the longer it went on the less healing I would do and would remain weak and in pain.

After I graduated college and started teaching things were better; I was less stressed but as time went on and I had to go back to school while still teaching I was only getting a few hours of sleep at night and not eating much, my symptoms came back with a vengeance. I had small fiber peripheral neuropathy diagnosed. I ended up using forearm crutches and canes to help me walk. I had MRIs of my brain that showed these holes that would come and go in size and shape and one neurologist would say it's the cause of my migraines and another said it was the beginning of a demyelinating disorder. I started having seizures. My leg weakness was so constant I started to use an electric wheelchair when I was not in tight spaces where I could have help to hold myself up. I eventually moved again to be a college professor of anatomy. I was out of the wheelchair for now and felt excited to be doing what I wanted to be doing, however I still had to finish my doctoral thesis as a result I started to ignore my health. Everything was making me nauseous and cause immediate vomiting. My abdomen was in constant pain and I ended up back in my wheelchair and was having seizures. They occurred during class so I was let go from the college. I am on federal disability now still in pain, still having seizures (as what happened yesterday when I collapsed in the doctors office had three seizures and collapsed again in the ER), still getting weak and damaging my muscles, still sick from eating certain foods I find new ones all the time. I did find out what has been the cause of my migraines and seizures though dehydration and electrolyte I'm balances both happen during an attack and both are what leads to brain damage, if it is severe enough it will cause the blood brain barrier to shrink tight in certain areas leading to the symptoms and the longer it persists the more permanent damage is caused.

Three years ago was when the term porphyria was first mentioned to me as a possible answer to my years of suffering. I always felt sick so it was hard to get the samples during the worst part of an attack, sometimes you just never knew, so it has taken multiple tests. When I first got a good result my doctor told me it seemed likely to be porphyria, but with many kinds of acute porphyria more testing was needed. At first the testing indicated probable Acute Intermittent Porphyria or AIP however further testing has just confirmed it to be Hereditary Coproporphyria or HCP. Now I need to have all my family tested, with 6 kids of varying symptoms starting, then two brothers, and my mother. Education is the best defense against the ignorance that leads to 25 years of suffering.

The Porphyria story of Victor LaFae with HCP

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