Try, try, and try: my porphyria fight | Sue Burell | TEDxUniversityofEastAnglia
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- Опубликовано: 25 мар 2018
- Living with Acute Intermittent Porphyria, Sue is much more than her chronic illness. Her positive ‘can-do’ attitude is not only a self-motivator, but also inspires those around her. Tune into her talk delivered at TEDxUniversityofEastAnglia to get a glimpse into what it is to live with a chronic disease.
Living with Acute Intermittent Porphyria, Sue is much more than her chronic illness. Her positive ‘can-do’ attitude is not only a self motivator, but also inspires those around her. She works closely with the British Porphyria Association, and finds fulfillment in giving back to society. This talk was given at a TEDx event using the TED conference format but independently organized by a local community. Learn more at www.ted.com/tedx
I have been sick since January and it has been debilitating, after having my heart beat out of my chest, potassium and electrolytes dipping and bottoming out, abdominal pain/back pain that feels like knives or something is rotting inside me, high blood pressure, dizzy, super fatigued, and so much more. My endocrinologist actually has me going through testing for this and at this point with countless CT scans not finding anything and every test you could imagine, I’m almost certain this is what’s going on.
You are an amazingly strong and wonderful person . I am sick tonight in a bad flare and found your talk inspirational
My daughter has EPP - thank you for sharing your voice!
I have AIP. I almost died after giving birth to both of my sons (5 years apart). My first husband and second husband couldn’t handle the stress that it created and they left. It wasn’t until after that, that the Pan Hematin treatment was discovered. It helped me tremendously. That was 16 years ago and I have had to navigate this disease alone, with 2 children, while medical professionals didn’t seem to believe me or take me seriously. My sons are adults now and are my greatest joy in life. I have very few symptoms of the porphyria now, and they are tolerable.
I have been sick my whole life. I had SEVERE nosebleeds at night as a child and the dr's burnt my vessels. My mother was diagnosed with an "extremely rare heme disorder" the dr didn't even give it a name in the early 90's. I have had my appendix out, my gallbladder out, most of my stomach out, more of my stomach out and some of my intestines. I have been on the strongest opioids that pharma makes. My spleen hurts, my liver hurts and I vomit every day. I am 45 years old. I LITERALLY just found out by accident that I have one of the porphyria's this week. I am going for testing/genetic testing next month. My whole family is sick and honestly i just made this comment to say that I do not believe this group of 8 types of porphyria's are as rare as we have been told!!! This month is RARE disease month and there are dna companies doing sales on whole dna sequencing! Take advantage.
My girlfriend may have this. She has all the symptoms and it's very hard seeing her like this. I met her after she was diagnosed as having Gillian Barre syndrome. However her Dr. Thinks she may have this. Any advice on how to make her comfortable or how to deal would really help. I love her so much and it tears my heart that she has to deal with this. Thanks
I have AIP and thank you so much for sharing x
I tested positive for AIp.porphyria..and it is a fing nightmare..!!! I wish you the best..!!!
I have it too thank you!
I was diagnosed with hepatic porphyria 25 years ago, triggered by exposure to high levels of formaldehyde gas. Thankfully I was cured of the disease in Mexico because several medical professionals in the US do not know how to cure it. Mexico is the place to go. I had the pain consistently too but no longer. Did not work for two years only and was cured.
what was your treatment?
More info please
Give me a break.
This is a very ableist message.
I’ve got it, my mother had it, I’m 62 now and it’s been a nightmare!
I am the same age and it is a struggle. Fortunately I now have a very supportive husband and friends which helps a lot. Learning how to control my thoughts and resolve stress within helps a lot but every day have to check in with my body to see what it can do that day. I do not like the feeling of not being reliable and because I have a mild case didn't interfere much until I got lyme disease which also went undiagnosed for many years and I was alone in my house for so long was freed from everything, family, friends, retirement accounts, career, etc. When I got treated and diagnosed have now been rebuilding my life, new spouse, new friends and new business ventures. Knowing what it has been, had mild symptoms as a child as well, helped so much yet doesn't change much bar the fear of the unknown. Have a blessed day, sending prayers for you. 🙇♀️✌
Thank You for this amazing presentation. My Rheumatologist thought I might have this, he tested me no positive Results, fast forward many years and now I’ve got far more severe symptoms including occasional red and cola colored urine. Working towards seeing a porphyria specialist as I’ve now got severe neurological issues…. Here’s To HOPE! Thank You!
I hope you are better but if not contact the American Porphyria Foundation. My dr told me we may have to test several several times to catch a + result and even then the genetic testing may be needed!
I wish we could get help with a diagnosis for my 15 year old daughter! she has been so ill since January. awaiting appointment from ninewells as we live in Scotland.
I have porphyria. Just diagnosed at 64 years old. I’m not going to tell my awful story but I have a question. If knowing you have this disease why would you get pregnant ! That baffles me. You are giving your daughter a crippling painful life ahead. When you could adopt. This I can’t get behind.
Im in testing right now to find out if i have this and im terrified
I have VP (Variegate Porphyria. I would say it’s exhausting. I’m from Norfolk
I was told ...1 out of every 100,000 people..close enough..lol
Each subtype varies a bit in it's prevalence, and the stats differ further from one source to another. 😉
Hello they think I may have porphyria but one that affects the skin and stomach etc I am doing tests for it I want to do a genetic test just in case im not in a flare and it is missed does anyone know a good genetic test I am in so much pain? xx
The American Porphyria foundation will genetically test you for free, IF your doctor will ask for it. I’ve suffered and been having Cola colored urine on occasion muscle spasms, left permanent damage to my leg, no reflexes, bowel issues, bizarre and strange issues my Rheumatologist thought I may have it, and yes tested me a few times x but not during attacks, so??? I’m exhausted, weary of the pain. I pray for any and all who suffer from this disease. I am Finnish (genetically) and am just feeling it will never stop. I am at a complete loss, as to where to go to get appropriate diagnosis.
Hi Sue, going on about numbers per hundreds of thousands and anyone else stating figures is absolutely pointless, most doctors hardly know anything about the disease, so how can they suspect it in patients who may actually have it? So those patients will most likely never get tested, and most probably never get diagnosed, so common sense is there so many more undiagnosed people who actually have the disease than any of the estimated numbers who have been diagnosed. So the actual real number of people who have Porphyria will in fact be a lot higher.
Keith Beard I am thinking about fibromyalgia. I have that diagnosis. Sounds so similar. You would never be tested. x
@@MT-tg4bt having gene and the disease aren't the same? I'm taking it you mean the gene being active or inactive, most who carry the gene they experts say are not affected by the disease.
My point I made on the long winded stadium slideshow is purely guessing how many people have the disease in the population, there's no wfay of working out a number for definite, 1 in 90,000 and then claiming 1 in 450,000 as severe as she is, what about the numbers that are very sick yet undiagnosed? Anyone in the Porphyria circles knows it can take decades to finally if your lucky to get diagnosed with Porphyria, you said it yourself, it took twenty years for yourself to be diagnosed, yes? You were a number out there unaccounted for, for 20 years, there's many more, so Sue's statement and how many people in so many thousand is inaccurate, because people like you who are sick with porphyria are out there, as you were, unaccounted for, yes? Why don't they say 'the medical profession don't know how people have Porphyria, because most of us go years before getting diagnosed, and that's if your lucky a medical professional knows about the disease to then test you', now that's more accurate isn't it? Regards
@@MT-tg4bt I never mentioned having the gene in my reply, so a little confused why you mention that to me?
@@elonerrigby9389 hi Eleanor, I'm not sure what your trying to say regarding you would never be tested? For fibromyalgia or porphyria? Best regards
Omg I have AIP and her baby has my same birthday 🥹 cap baby
affreux les douleurs comme les contractions lors de l accouchement
I need help please no health care living with this not proterly dionosesd help I'm European rare blood type rh - help no care here please send help I have 9 children 6 grandchildren please help I'm 45 I can't get health care here derrider Louisiana please send help for me and children
Why would you have a child when you could possibly pass this on?
She said she had IVF. Don’t judge.
Laura Price doesn’t that still mean the child can still inherit this?
One she may be using donor egg, in that case most likely not.
One
I understand your thought and would think the same, have thought the same. I can’t have children so it’s a moot point,
Here is the terrifying part of AIP which is the most common type. 1:1497 people carry the autosomal dominant gene. You very well could be a carrier. If she was tested at 15 genetically she has close family with it.
People who carry the gene usually have no symptoms. Something like 5% become active, mostly women because progesterone and estrogen both trigger attacks.
I have dual porphyria. Which is what it sounds like. I received the dominant gene from my fathers side for one and the dominant gene from my mothers side for the other. My pain started young. I am going to be fundraising for a service dog to give me mobility assistance. I hate my roller walker. I also need the service dog for seizure and cardiac alerts. All problems caused by porphyria damaging my body for 20 plus years.
My point in saying this is we are all carrying the genes for numerous terrible diseases. It’s the reason a dr won’t just genetic test you first without familial evidence or clinical evidence. It would terrify you and paralyze you for perhaps nothing. Carrying the gene doesn’t mean affected by the gene.
Those reading this fighting for an answer to their pain and suffering...don’t give up. Autoimmune diseases never show on blood tests in 5% of the population. So if you are seeing a rheumatologist who will not admit that fact; move along. Seriously, move along because that dr isn’t looking at you, he’s looking at labs.
You are going to be called crazy, hear somatization disorder and it’s going to be brutal I am 35 and just now receiving the diagnosis. I’ve been called crazy from 15 years old without fail by doctors that should have caught it.
Find a dr that will sit down and listen to you, examine you by touching you.
Keep a journal of symptoms and severity and if you are a woman, make sure the start and stop of your menses is in it.
Because it is a dormant gene not a single person in my immediate family has it but I have it i got the double sided it effects my skin and my internal organs
I've no idea what you UM said. Get a mic and enunciate. & the floral pattern says all the wrong things :(
I've no idea what you are trying to type. Get an education and go screw yourself. The douchebagness portrayed in your message says all the wrong things.