Friday, October 20, 2017

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 preparing for unexpected life events without really believing that they might happen.  Investing the time or energy, or thought required to be adequately prepared for something serious illness is not always at the top of our to-do list.  We may not have much money to put aside for a rainy day, thinking about life or health Insurance many of us may or may not have.

 How often do we complete and sign off on these documents, only to file them away and forget about them with little, if any discussion with loved ones impacted by these decisions? Because some of these discussions are not easy, it is common to want to avoid them.  I know i did.  It was a good time to honestly sit down with my family, because in my case (AIP) my attacks were changing and increasing no matter what we have tried and with age other things in the body, honestly do not get any better.  So no more excuses, its time to be honest and talk and think about the options and be prepared.  

The worst thing you can do is NOT BE PREPARED!  
Speaking from experience when one of my parents passed away unexpectedly, their was nothing really written and sealed as to their wishes, and after things, home, items what to do with them and how.  It caused a lot of stress to take that upon and in my case having AIP and stress is a big trigger for me.

That's why I want to talk about this.  All of these preparations are important in ensuring that our choices and wishes are honored through-out life.  It is very clear that preparation, however, without discussion can often be inadequate and incomplete.  

When sick with Porphyria we already feel defeated and are extremely sick or in so much pain we still have to be very alert and our own advocate.  Confronted with multiple decisions regarding our healthcare, both patients and families can be overwhelmed.  When discussions have been part of the preparation , it can ease the burden of decision making, reducing the stress for loved ones, especially when a crisis actually occurs.  

When we have the opportunity to share our health care goals, our wishes, values and that which gives us quality of life, with our loved ones and our professional caregivers, it becomes easier to make the necessary decisions if that time should arrive.

Remember the importance of those difficult conversations and consider them a part of your health care discussions and decisions today.  

At first,  I personally had to think about it, timing things out with my family members, choose the time.  I had to do it swiftly but also ask, am I ready to discuss it?  How will they react?

If you have not already done so i encourage you to explore Advance Care Planning.
It is a process to explore, understand and document your wishes for future health care if you become unable to do so.  Seek out a health care professional today and ask for a Health care document, ask for a social worker to help explain the document its purposes and how it benefits you. 

Preparing today will bring you, family and friends peace of mind.

Wednesday, October 18, 2017

Member story Ann Warnke on EPP

Ann Warnke

Erythropoietic Protoporphyria (EPP)

Living with EPP

Ann Warnke had her first symptoms of Erythropoietic Protoporphyria (EPP) when she was 13 years old. A friend of the family took Ann and some other kids deep-sea fishing, and after she got home that night, her face swelled up so much that she couldn't open her eyes and her nose disappeared. The capillaries under her skin burst too, so that she looked bruised as well as swollen. She says she looked "like I'd been beaten."

Her doctors first thought the swelling and bruising were a bad reaction to something she had eaten, and Ann would go on to have many more photosensitive incidents before she was finally diagnosed with EPP as an adult. Yet the knowledge of her own diagnosis allowed Ann's younger son to be diagnosed by the time he was three years old. Just like Ann, Matthew got to go out on a boat for the day with his dad, but the sun made his skin burn to the point that holding a hot dog was painful, and his ears turned inside-out from the swelling.

These days, both Ann and Matthew have their EPP well under control. They both use UV-protective clothing, and can even go skiing sometimes or take a cruise with the help of a face mask, an umbrella and pharmaceutical-grade beta-carotene. Ann notes that Matthew's diagnostic labs don't show such high numbers as her own, and that he appears to have milder photosensitivity than she does. But for both of them, a photosensitive reaction with EPP means swelling, itching and painful burning that can take five days to subside. During that time, the Warnkes turn the A/C down low, and use ice bags, Benadryl and Tylenol 3 to ease the pain.

Ann uses Lumitene (pharmaceutical-grade beta-carotene) if she needs to increase her sun tolerance without increasing the symptoms of EPP. At home, she prefers to cover up and avoid spending time outdoors in the sun, because taken over a lengthy period Lumitene turns her skin orange and gives her some gastrointestinal upset. But when going on vacation she'll begin taking Lumitene a few weeks before leaving home, continue throughout the vacation, and then taper off it after she comes home. She still covers up all the time, but she is able to stand more time in the sun with Lumitene.

Back home, Ann has special tinting on her windows to protect her from the sun's UV rays. APF Scientific Advisory Board member Dr. Micheline Mathews-Roth helped Ann with the window tinting and has gotten testing information to Ann's doctors. Ann calls Dr. Roth "just phenomenal, extremely good and accessible." Dr. Roth has been a wonderful resource both for the APF and for EPP patients.

Ann is a wonderfully positive person and has a fantastic attitude about dealing with her condition.

Friday, October 13, 2017

AHP Alnylam Pharaceuticals Study- Electronic Diary

There are many different ways you can help with research, not just participating in a drug research trial.  Below is one of the very different but equally important ways to make a difference:
Alnylam Pharmaceuticals is currently conducting a study with individuals who have Acute Hepatic Porphyria (AHP); AIP, VP, HCP, or ADP, as well as with caregivers of someone with AHP.  The purpose of this study is to understand opinions about a newly developed porphyria Electronic Diary. 
You or your caregiver can be a great assistance in this new study.  It is important to know if this particular Electronic Diary is easy to use and efficient. The study is conducted by a vendor different from Alnylam.  Please contact the APF if you would like to participate.  Remember, your caretaker can participate, too.  There are only 8 spots left, so join now. 
Potential participants will be screened by phone and if they qualify, an interview will be scheduled. The interview will be conducted in-person, will be approximately 60 minutes long, and will be audio-recorded. Participants will be compensated for their time. Alnylam will not know the names of any participants, and the feedback received will be anonymous.
Email Edrin at the APF: 
Or call 713.266.9617 or 866.APF.3637

Event Brite- FDA Scientific Workshop for Erythropoietic Protoporphyria (EPP) is now available for review

A Message from United States Food and Drug Administration:
We are pleased to announce the publication of the summary report that summarizes the October 24, 2016 FDA Scientific Workshop on EPP. The report has been posted online and can be found here:

We are thankful for your participation and grateful to the patients, caregivers, experts and others who shared their perspectives at the workshop. For more information on this workshop, please visit the workshop website here:

 Scientific Workshop for Erythropoietic Protoporphyria (EPP)

Monday, October 24, 2016 from 10:00 AM to 4:00 PM (EDT)
dateFDA White Oak Campus
10903 New Hampshire Ave.
Great Room (Enter at Building 1 to clear security)
Silver Spring, MD 20993

Monday, October 9, 2017

Jean-Baptiste Roberge Story of Erythropoietic Protoporphyria (EPP)

Jean-Baptiste Roberge
Type of Porphyria: 
Erythropoietic Protoporphyria (EPP)
"Seizing the day even if it is raining outside".
Throwing a soccer ball into the goal has never been something easy to do for me. I am almost unable to catch a ball and throw it back without clumsily dropping it.  When I was a kid, I never had the chance to go outside with friends and to simulate a football tactic. I just couldn't.
I still remember the summers in the countryside. I constantly needed to go back home to compulsively wash my hands. I still remember, as an 8 year old boy, trying to explain to a young day camp monitor that I could not play with the rest of the group on the beach. I still remember the judging look on my high school gym teacher's face when I was trying to explain that I should preferably stay in the shade of the trees while the others were scoring points on the soccer pitch. I still remember the feeling of guilt after having canceled a promising trip in Iceland, because I was terrified by a never ending sunset. I still remember the comments of my brothers telling me that all this was in my head.
Last summer, I heard about a hematologic condition. I read a lot on the subject, which tried to convince me that what I had was not that serious. Eventually, I met an internist and told him my hypothesis. A few extremely precise and unusual blood tests later, I met him again last January. On that day, the specialist was accompanied by an internal medicine resident. He told her to take advantage of this interview because I would, in all likelihood, be her only case of that condition in her entire career.
          I am a 21 year old young man from Québec, Canada studying medicine at McGill University in Montréal. Since last January, I have been diagnosed with erythropoietic protoporphyria (EPP), an extremely rare genetic disease that explains the symptoms I have had since a very young child, symptoms without any visible manifestations.  Symptoms that only I can feel. Symptoms that everyone had already doubted were real, including my very self.  What are those symptoms?  A severe skin pain accompanied by a burning, stinging, and tingling sensation as soon as my face, arms, or hands are exposed to sunlight. Since I have absolutely no physical findings visible to the naked eye, this cutaneous photosensitivity is extremely difficult to explain to others. The most difficult part is that if I slightly abuse the small tolerance to sunlight I have, this severe skin pain can carry on for multiple hours, nay several days. Moreover, nothing really helps: sunscreen, tinted glasses, or water in a pool have absolutely no protective effect on me.
Because of my erythropoietic protoporphyria, which consists of an inherited enzyme alteration in the heme biosynthetic pathway, I have an accumulation of protoporphyrins in my red blood cells. These proteins abnormally react to visible and ultraviolet light, entering an excited energy state that damages my skin tissue and my liver and making me prone to gallstones and liver failure. Unfortunately, there is no effective way of lowering my circulating protoporphyrin levels. Beta-carotene, cysteine, carcinogenic occlusive sunscreens, and narrow wavelength phototherapy have been tried. Of all possibilities, a drug named, afamelanotide that acts to increase skin pigmentation by stimulating skin melanocytes has shown promise. It has been approved in Europe but not yet in the US.  Lack of awareness for this rare disease slows down the regulators. 
When I was a kid, I would have been so happy if at least one person could simply and fully understand me. Awareness for rare diseases such as erythropoietic protoporphyria could mean the world for people affected by them. Even if there is no cure available for my condition, I finally have a justification for my symptoms and a simple way to explain them to others without being judged in any way. As a future physician, I will do the very best I can to be aware of these rare and afflictive diseases.
Summers and their cruel sunbeams, winters and their sparkling snow: everything is against me. Everything?  No! I have an ultimate compromise: avoiding the sunlight, wearing long shirts, walking away from the sun, planning on which side of the car I should sit during long trips, even resigning myself to never being very good at outdoor sports, being different, accepting this handicap, and still seizing the day, even if it is raining outside!!!

Friday, October 6, 2017

Go Nicole Castellano!

We are so proud of you Nicole! 
Congratulations and much success in raising awareness for the APF!

On October 8th 2017 I'm running in the 40th Anniversary Chicago Marathon which is quite a feat as just years ago I was in a wheelchair and couldn't walk due to the rare, devastating disease Porphyria. Porphyria is a rare genetic disorder that is incredibly painful and can be fatal. There is no cure for Porphyria YET. My goal is for us to raise $5,000, 100% of which will go directly to the American porphyria Foundation. Because porphyria is so rare it gets minimal funding from the government so any donations help immensely!

The American Porphyria Foundation advocates for patients all over the world and supports research to not only improve treatment but to one day find a cure. I'm so passionate about their Physician Education programs because I watched doctor after doctor year after year banging their heads against a wall trying to help me. Testing for porphyria IS available and the more the doctors know to look for porphyria, they can properly diagnose many more people and more quickly.

I believe one person can make a difference, please join me in being that one person and let's see what we can do together with the power of the ripple effect of social media honoring one of the most inspiring races in the world. Please donate at least a dollar and pretty please with sugar on top share this with your entire social media network and sincerely ask them to do the same thing to help the APF in its mission.

Press Release

Escaping from Deadly Porphyria to Running the Chicago Marathon, Nicole Castellano Inspires All!

Saint Charles, IL - On October 8 at the 40th Anniversary Chicago Marathon, Nicole Castellano will run to bring attention to a rare disease, Porphyria. Nicole is herself a survivor of this rare illness, with near fatal experiences that beat her down physically and mentally. At the marathon, every step she takes will help support others ailing with Porphyria and all donations received will go towards the American Porphyria Foundation (APF). Since Porphyria is rare, funding from the government is minimal, therefore donations are critical to increase awareness and research for a cure.

Nicole has seen it all and emerged triumphant. From a world class skating athlete, she was reduced to a shadow of her former self due to Acute Intermittent Porphyria, one of at least eight types of this rare disease. She became wheelchair bound unable to walk suffering burning, stabbing pain in her abdomen that was unbearable. She underwent nine abdominal surgeries, including a hysterectomy that wasn’t required, that left her unable to have children.  She experienced mental changes including hallucinations from a lack of oxygen in the brain that is common with Porphyria and almost died three times.

She says the worst part was not knowing WHY and living like that for 12 years before she was diagnosed and finally treated with the expensive drug Panhematin that she says saved her life. Nicole still gets monthly infusions through a port in her chest to keep Porphyria at bay.

An active role was played in Nicole’s recovery by the American Porphyria Foundation, which is dedicated to improving the health and well-being of individuals and families affected by Porphyria. The APF was instrumental in doing research and getting the drug approved that Nicole and so many Porphyria patients rely on.

Before Porphyria attacked her body, Nicole attended Northwestern University 1991-95, graduating with honors with a double major in theatre and anthropology. Like any other teenager she dreamed about her future, and passionately took up photography and writing during a trip to Africa and even got her pilot’s license.  She went on to start a moving and storage firm, and was awarded the 2005 Businesswoman of the Year by the Business Advisory Council. Her dreams were however soon to come crashing down with the advent of Porphyria.

A rare and difficult to diagnose disease, Porphyria inflicts chaos on the autonomic nervous system. Some symptoms are neurological problems, severe stomach and back pain, vomiting, nausea and sun sensitivity. Extreme pain and possible fatalities make Porphyria a dreaded illness which currently has no cure and is so rare it has Orphan Disease status.

Nicole hopes that since testing is available for Porphyria, the funds raised for the APF will go toward their Physician Education Programs so that doctors can diagnose more patients and more quickly so they don’t have to live with the horrible uncertainty that tainted her recovery.

“I began doubting everything I knew about myself and It affected my relationships, my self-worth and self-esteem. I stopped believing in myself, feeling like at times the doctors thought it was all in my head.  I knew it wasn’t, but I blamed myself for being sick, for not being able to function like I used to thinking that I should have been able to be stronger somehow. I now help other women see it’s not their fault they’re sick, they’re not alone and it’s not who they are, it’s just something happening to them right now,” she says.

Nicole fought on bravely, started a painting business and an Arbonne Health and Wellness business, saying that her treatment got to her about 70% of her health back, but following Arbonne’s specialized diet got her all the way to 100%. After attending an Arbonne leadership conference, she started dreaming again and clawing her way out of survival mode.
Just as the 40th Anniversary Marathon is a milestone for Chicago, this run marks a milestone for Nicole and her battle with not only Porphyria, but the stigma attached to it.

Nicole says, “When you’re fighting a rare disease it’s easier to have people that love you unconditionally help you through. Even if you don’t have that, you can still bounce back stronger than ever and reclaim your happiness! It starts with taking control of your health and your life. I show women struggling with serious illness and relationships how to heal and get their life back, even when they think there’s no hope.”

Media Contact
Contact Person: Nicole Castellano
Phone: 630-888-7841
Address: 321 S. 5th Street
City: Saint Charles
State: IL 60174
Country: United States

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...