Porphyria Community

Meet, discuss & support other patients or families living with Porphyria. Contribute to topics, or just share what's on your mind

amychapman
moderator

What do you find is the hardest thing about your Porphyria is?

What do you find is the hardest thing about your Porphyria is?
Example Testing, Diagnosis, Dr. Education, Treatment or Pain?
Those are some ideas that if you could tell me your type and your experience I am writing a book and would like your input. This is also going to help the Medical Profession to understand our challenges and needs to help finding a cure. So please share.

Mauersegler
moderator

Dear Amy,

The hardest thing about my porphyria (EPP) is when people do not believe me having severe problems with the sun/ light- regardless if these people are professionals or belonging to my social or public environment I have to deal with. Getting comments on using an umbrella in bright sunlight is a usual experience for me - which on the other hand can be sometimes a good starting point to nice and informative conversations with strangers! Sometimes people I know get annoyed by my disability to join outdoor activities and try to persuade me on the “not so strong and dangerous sunlight conditions today”-which they usually can’t judge. Having a rare genetic defect makes you an expert on your own disease- mostly because you have to. I think everybody should respect this. Not taken seriously makes me sad in daily life, but can be life threatening in medical situations. Especially in acute porphyrias, where a wrong treatment decision brings people in severe danger, but also in EPP -for example during operations without light protection, which can lead to fatal burnings of the inner organs. I wish people in general would listen more carefully to each other; this could solve a lot of problems, not only in the rare disease area.

yes, I think that humanity should be more tolerant in view of all the differences!
good luck
Maryline

amychapman
moderator

Salut, Je ne sais comment vous vous sentez. Je suis désolé que vous avez à passer par là, et les questions. J'ai AIP très mal et les gens me disent toujours qu'il n'y a rien de mal à ne pas avoir l'air malade, mais quand Médecins me tester dans bloodwork et l'urine alors qu'ils savent que je ne me sens pas bien. Beaucoup ne peux pas comprendre ce que le sentiment est comme, mais ma sœur de la mère et grand-père ont tous AIP et mon grand-père est mort d'une crise très importante, il était dans la guerre II vint d'Italie, je dis aux gens n'est pas à l'extérieur tellement mais whats passe à l'intérieur de mon corps. Ils ont tout dit de moi à votre folle de son dans votre tête que vous ne pouvez pas avoir, mais avec de l'ADN et d'autres tests gentic nous l'avons. Merci de partager votre point de vue et j'espère que votre meilleure sensation. Amy Chapman AIP patient et modérateur Connect Rare. Im désolé pour mon français, j'ai essayé vraiment dur.

formerEURORDISstaff
moderator

Hey Amy,
You can always write in English, and others can ask for a human translation of your message into the other 4 languages here. Thanks very much for all your support.

The most difficult? Good questions, because there are a number of things.

The worst, I think, is the medical situation. It took time to be diagnosed because it's a disease that is not well-known. Once the diagnostic was there, I was told there was no treatment. From that moment, I didn't find any doctor to help me or give me answers, the beginning of a treatment plan ou follow up. Nothing, I was left on my own looking for information on the Internet...

Today, I have found my own solutions to protect myself and I ask every year for a blood test and a liver ultrasound.

Not finding anyone with knowledge to help you is really the worst. If medicine is not there with you, that's a bad sign ;-)

As for me, I don't have problems in the winter, so I have a tendency to forget my PPE. As soon as spring comes with the first ray of sun, I remember that I am going to have to be careful and use my special equipment again. It's hard to say, it's starting again, I am no longer normal, I have to protect myself! I am lucky because I've got light PPE, I live very well 6 months of the year and no one notices anything.

What is also difficult is to not allow your family and friends to see the sun: vacation, walks, gardening... People need the sun!

But I can't complain, my family and friends are very understanding, even my colleagues. I also know that I am lucky that PPE came later (at the age of 25)

Rocco
moderator

Hi Amy, the hardest thing? There are so many difficult challenges related to living with EPP and most of them have already been pointed out by others. Here 4 points I want to focus on:
1. A very difficult condition to grow up with - I vividly remember the pain I suffered as a child, the screaming, the crying, the feeling of injustice - Why me? - And the scorn from the other kids - You are the weirdo on the block, he wears gloves, large hats, he doesn't go to school outings, what's wrong with him. Even though as an adult you learn to somehow cope with the disease, it remains very challenging to live with EPP - You simply can't lead a normal life, you always live in fear of developing the painful EPP symptoms and when you do you have to retreat from life for a few days until symptoms subside. This has negative consequences on your family and professional life.
2. The helplessness of my parents, struggling to protect me from the painful consequences of the disease while trying to give me as normal a life as possible. And their desperation at the death of my brother who suffered fatal hepatic complications - Again, this strong feeling of injustice - Why our family?
3. People not believing the severity of the disease - What's you're problem, you look normal, you don't have anything, you're exaggerating - While inside you are burning up in pain and you wish so much that you could just transfer the pain to them so that they can finally feel what you are feeling. I have sometimes wished my disease to be more visible - When someone sits in a wheelchair no one questions the severity of their condition...And the worse is when so-called healthcare professionals do not believe you, this is when I get very aggressive and I thank my mother for having taught me good manners which prevent my aggression from becoming physical.
4. Finally having a treatment that successfully addresses the symptoms of the disease and waiting for its marketing approval, knowing from your own experience and that of many others who have experimented it that the drug works while also knowing that it may never be approved because some health authority doesn't consider EPP to be serious enough to deserve such a treatment, because they don't believe EPP is severe enough, because they put a price tag on the quality of my life. This is tearing me apart inside - Thanks to the strong engagement of our doctor, Elisabeth Minder, and special Swiss legislation, I am under treatment now since 2006 and the drug almost made me forget I have EPP - It completely changed my life, I finally lead a pain-free, normal life - The thought that one day this may all end makes me very anxious. I simply cannot imagine going back to the life I had before...

Hi, Amy. The hardest thing for me is the pain. It takes over my body, dulls my mind, affects my coordination, puts me in an ugly mood, on and on. You know, I'm sure. The second is the effect of having to use so much sugar: obesity, high blood pressure, breathing difficulties, lack of stamina. Sugar does control the disease for me (more or less) and keeps me off the hard drugs, so I probably shouldn't complain. I can pretty well put up with weird looks from having to use an umbrella when I'm outside, but being fat is really hard. The third thing others have mentioned as well: The total ignorance of the medical community. So many doctors and ancillary staff have never even heard of it, let alone believe me when I say I cannot use one of their favorite remedies. I have for years been treated like I'm a hypochondriac. However, to be fair, I have within the last few years found a nurse practitioner who is willing to work with me, searches the internet for information, etc., and actually cares when a medication causes trouble. I also had an anesthesiologist who had worked on a porphyria research project in Texas and knew what I was talking about. He took me through and brought me out of surgery with a clear head and NONE of the side effects of previous "assaults" by the ignorant. I told God thank you a dozen times for that man!!

Hello Amy, unfortunately they are many, certainly in the first place the pain and nausea that last 2 weeks, 24/7. Then there is the solitude, the sense of abandonment, doctors can do little and almost no one knows about the disease.
I have a specific question for anyone who is suffering from acute intermittent porphyria, have you also noticed an increase in your urinary zinc?

I have V/P/PCT, the hardest thing for me, apart from the pain, is having to stay indoors, even solar light affects me. It is hard to explain to people what porphyria is, I am lucky that I have a great GP and 3 Consultants.
Amy, you are doing a great job and I thank you for it, I loved your video, you did it so well.

amychapman
moderator

Thanks Mary Lipscombe. I really love helping out where I can, most importantly is is education, listening and caring for every patient I meet over the phone, online by phone and email. To help someone is the biggest happiness for me. You do such a nice job yourself Mary to encourage, your views and experience keep up the great work.

Hello Amy! I'm very glad to find you in this network. At home there are a few patients of Porphyria, my son has AIP, and my sisters still don't know what kind of porphyria they suffer from (one of them has severe issues with the sun). This will make you see one of our big difficulties: the diagnose. As in my country (Mexico) we are very few patients of this illness, the doctors don't know about it, and least how to treat it or diagnose it. There are no labs where they do the necessary tests. In all the country we have found two places: Centro Médico NACIONAL Siglo XXI (National Medical Center XXI Century) and a laboratory that is in the State of Puebla. Reach them has been a long odyssey.
As everyone has told you, the doctors don't believe you when you say that you are sick, they want to tidy up the symptoms to match other many illnesses, and they resist to believe you. Just only now, that other of my sisters has been hospitalized with a severe crisis, the doctors start to believe us when we say that there are a few patients of this illness in my family. As they see you well in the outside, they assume that you are inventing, or that you are exaggerating... there have to be very severe crisis for them to believe that it is porphyria.
This is our big difficulty: this illness is of loneliness... there is no association in Mexico supporting patients with Porphyria, there are no doctors nor laboratories nor pharmaceutics, nor people interested in this. It is a struggle with the emptiness of the information. It is to explain one and a thousand times to the doctors, friends, schools, that it is Porphyria, and that they can't understand...

My daughter suffers from EPP and for my as her mother the worst is not being able to do anything.
I just can't help her when she is in a lot of pain, and I feel helpless. :(

For our daughter the worst is the pain and to realize to be different.
All she wishes for is to finally spend recess in school outside like the other children, go to the pool or go on a beach vacation.

Hello Amy, I have AIP. It was always very bad for me, when my nerves were going crazy. I couldn't sleep, sit or lie quietly for a minute and I couldn't concentrate myself on anything at all.
Now, I'm liver transplanted and happy not to have to set up my whole life to the disease.

Hi Amy (and everyone else), I am tearing up as I read other peoples hardest thing list. Mine falls into two phases, growing up to the end of my teens and my new life as husband and now dad.
being sick can be so painful, the sleepless night, the strange looks when wearing long sleeved jackets, gloves and a beekeeper type hat (back and side flaps). not being able to enjoy outdoor activities and then being ostracized (because other kids didn't understand). when growing up the Dr's me and my older brother met with didn't understand and we were teaching them. I thought this would/had changed which brings me to my second stage of life.
I am the father of a 2 year old boy who was recently diagnosed with EPP. I cried when we were told the results because I don't want him to suffer the pain, feel different, become anxious and have to hide from and perhaps at times even hate the sun. As yet he is not symptomatic but I am just counting the days. Yesterday we went and visited the head of Liver and intestinal Transplantation at the main children's hospital in Melbourne. it felt like I was a child all over again as my family sat there and heard her say, I don't know anything about this disease so I need more time to speak to colleagues from overseas. the positive was that there are people she knows she can speak to and she will stay engaged but why did she not do this during the last 3-4 four months whilst we have been waiting for this appointment to arrive. Conversely, I must applaud another Dr at the other main hospital in Melbourne who helped us get the testing for mutant gene completed, firstly for myself, then my wife and lastly for my son. to have met her we have been very blessed. good luck to you all and to those in the southern hemisphere, stay in the shade over the next few months. thankyou, Liam

formerEURORDISstaff
moderator

Liam,

Thanks for posting here. Have you been in touch with anyone from this group yet?

Porphyria Association Inc. Australia
Christine Williams, President
porphyria@msaustralia.org.au
http://www.porphyria-australia.org

They are having a meeting on Nov. 19th, in Victoria, check it out on their website.

Best wishes to you and your family,
Rob

For me the hardest thing is remembering what life was like before my AIP reared its ugly head. I am sick a lot. I used to run marathons, I used to have a lot of friends, my husband used to think I was fun, I used to use my sick days at work for "mental health" to enjoy a beautiful day, I used to drink wine and get the giggles, I used to beleive I could do anything, I used to enjoy food, I used to enjoy being me. Now it's a struggle to get through most days and I am very lonely and sad.

amychapman
moderator

Dear Jennifer, Thank you for your heartfelt expressions I know for me to its to have balance and recognize our own limits. Its just not fare for us or anyone else to compare what we could do back they to what we do know, it can change hourly or by the day for us keep strong and keep those goals well in mind and hoping on day we can do all the things we once enjoyed. Best wishes and good health.

There are a few very difficult issues to deal with when you have EPP. The first would have been for my parents bringing me up in the forties, fifties and sixties having no idea what was causing me to scream with a burning pain in my hands and feet. Then trying to conceal it from my peers at school, work and socializing. I lived for the sun to go down and then I would change from the anxiety-ridden, frightened and socially isolated daytime person to bloom into a more confident and happy person in the evening. It was rather like playing at being Cinderella at the ball until the clock indicates the sun is on it's way so time to hide away from another day of daylight. Another difficulty was dealing with everyone who just said 'oh so you have fair skin and you burn easily, and you don't like the hot weather do you? You should try sunscreen, or sit under an umbrella'. Another difficulty Is having to arrive first in my group of friends to ensure the table is well away from the door and windows of cafe' and restaurants. Recently I arrived at a country winery/restaurant to find that our group of fourteen had been given a table outside under the vines which looked just beautiful, but I had to insist that the whole table be moved inside away from any windows. I upset most of them and could tell that they thought me rude,, insistent and quite strange. I found it difficult when I went to shop at Westfield Shopping Centre at Airport West today because they now have glass domes in the roof so that natural light streams through the centre. I spend my time avoiding the sun and light that shines through so I have to keep crossing from one side of the walkway to the other to avoid it. It is also hard now that we here in sunny hot Australia who were on the Scenesse Clinical trial cannot have access to this wondrous drug which was developed by an Australian company. I just wish that one of us here had some connections in government to help us. Does anyone know if there is a way of going about submitting a request to the federal government? Regards Anne

Hi Amy,
For me is the lack of energy.. I want to sleep all day every day..I'm exhausteusted all the time I feel like a looser who wants to accomplish a lot of stuff and hardly makes one thing!!
Thanks God my baby keeps me awake but her siestas are my siestas. Very often I take morphine for pain and I hate that :(..

The hardest thing about my porphyria is having to stay indoors to avoid solar light and sunlight. I have PCT/VP the other symptoms too, eg stomach cramps, burning skin are very unpleasant too. I don't want sympathy, just understanding from family and friends, I find it irritating when people tell me how well I look, with the implication, there is nothing wrong with you.

I have EPP and I have to say I have it fairly well under control for the most part. I have managed to structure my life in such a way that I can avoid sunlight more often than not.

I have UV filtering clear film on the windows of my house and my car. I have my UV protective clothing, sun gloves, large brimmed hats and sun parasols.

Over the years I have made a handful of close friends who have come to understand my condition and learned to accept my limitations and work around them whenever possible... or else not be offended when I turn down an offer of socializing that can't guarantee my safety and comfort.

Some things simply will not and cannot be shifted about to accommodate me, the shops, doctor's offices, parks, museums, etc, won't be open over night just for me, after all. That can be difficult, the world stubbornly refusing to go nocturnal for me. ;)

In all seriousness, the worst part? People who refuse to believe that my condition is real. That my symptoms are even possible. They think I am whinging. They say if I just spent more time in sunlight I would build up a tolerance. They say things like, "Oh my friend is fair skinned like you. Sun really bothers her as well." I want to scream, "NO. It is not the same thing. Being a little fair skinned and easy to sun burn is not the same as having your skin feel like you have been set on fire and are burning from the inside out. Pain so great it makes you dizzy and nauseated and it doesn't stop just because you get out of sunlight... it goes on and on, sometimes for hours, sometimes for DAYS. NO, it is not the same thing. So stop trying to belittle me and make light of something I do my best to keep to myself anyway unless forced to express it."

I know my condition makes some people uncomfortable. I tell them, they should feel what it does to me... then they can call me dramatic, attention seeking, "taking this goth this a little too far" and so on and so forth. Usually, I just try not to let it get to me, though that can be easier said than done.

Hi Amy, thank you for making this Porphyria Community available to others and myself.

What do I find is the hardest thing about my Porphyria is? Going undiagnosed all these years; when I look back in hindsight when I was a child and now I'm an adult I shake my head in disbelief. I was adopted at an early age and had next to no medical history.

From youth having sun exposure and having sores break out on my arms and legs, to being constipated and going into A-fib at times, having low blood counts in which case I'd have to be admitted for blood transfusion, is pretty much my story in short.

Has anybody in the Porphyria community ever broken a bone? I never have.

I brought up dental records in my registration but I'll only talk about that off record with anyone interested. I have some questions but they can wait.

Sadly I'm a skeptic of the medical industry, I respect Doctors and the Foundations, but I've had some things in my life happen that don't add up. Maybe one day I'll have a change of heart!

I feel like I'm venting on here and I don't mean to... lol.

Thank you again to everybody sharing their story on this Porphyria community!

Cheers