I lost a loved one from this. A lot of ignorance and hostility from arrogant medical directors. My life is wrecked. Will try and post feedback when I can. Thank you for studying the Porphyrias though.
Your list of agents that increase risk of causing an Attack should be in line with the American Porphyria Foundation. Please let others know about this foundation to help loved ones and victims of this 'invisible yet deadly' condition. Worst part of this is we were prepared to treat this genetic condition on Day 0. But the hospitals one by one refused to even run a urine PBG (sample should be taken DURING) the acute attack and pain management must be given until Panhematin is available or Porphyria is ruled out. Scans and labs normal + unexplained BREAKTHROUGH severe abdominal pain + emesis require this condition to be ruled out on the differential for both males and females of ANY RACE (And for that matter, ALL mutated Genes can spontaneously develop during reproduction, independent from the known inheritance pattern - but this would be rarer). At least for AIP, the symptoms are not that hard to catch and save the patients life. It is also the most painful medical ailment a person can have. AIP attacks are worse than any cancer pain - every hospital needs to have placards about commonly missed diagnoses that are rare or easily dismissed due to current policies (i.e. scrutinizing unusual patients as trying to get pain meds requires quickly ruling out those differentials of conditions that will cause unexplained pain. Pophyria is not a joke and every MD has a legal responsibility to treat the patient per the standard of care I wrote above (same as what the Porphyria foundation states.)
@@lexstars8978 I have AIP and was first hospitalized at 16. Finally diagnosed at age 36!! It's very difficult to get Dr. to run the right tests at the right time. I once had a gastro doc tell me AIP wasn't real because he had never seen a case in his many years of practice!😡 My daughter is now in her 20s,has been in ER several times with same symptoms and after many blood, urine, ultrasound and CT with no answer the ER always say they aren't equipped to test for elevated precursors so they refer her to her primary care and they told her the same thing! It's so frustrating. It's not made up. She was screaming in pain even after the morphine same as I was and they sent her home because the tests they ran were normal. We have to do better. People need that test during an attack preferably. Why don't ER order them? It is mind boggling and just wrong.
@@danellequick3622 I am so sorry to hear you guys have gone through this. Just because something is rare doesn't mean it doesn't exist!! What a stupid mindset. It's not extremely rare by any means, so not doing the tests to rule it out is irresponsible, the symptoms can often be quitr specific, and the severe and episodic nature of it should set off alarm bells for any doctor. I don't have it myself but I learned of this in university. I have an interest in rare diseases (particularly genetic diseases, I study biology and genetics is one of my favourite topics). I do understand your pain of dealing with doctors because I have had many of the same experiences with my acetabular dysplasia (malformed hip socket that is typically present from birth or early childhood), I first started having pain at 16, but I wasn't diagnosed until much later despite my insistence that I would randomly get severe stabbing pains in my leg that made me unable to put any weight on it. By the time I was finally x-rayed and diagnosed, I was no longer able to walk without a cane and I needed heavy painkillers on a daily basis, especially to do basic tasks like cleaning and showering. At its worst, I had to walk with crutches because the arthritis was so bad I couldn't put any weight on the leg ever. I ended up having to get a total hip replacement when I was only 26, the nurses told me I was the youngest person they had ever seen get a THR. Just some basic x-rays would have easily shown I had something wrong, and easily prevented 13 years of chronic sometimes mind-blowing pain, but doctors kept on ignoring me until the pain was so bad that I couldn't walk. And this is for an disease that has a prevalence of 1 in 1000, not rare but uncommon. I can't imagine what you guys must have gone through getting the right diagnosis for a rare disease. Doctors need to listen to patients, rather than being arrogant and thinking they are experts in everything, they need to understand that a patient knows their own body and knows when something isn't right. Not all docs are like that, but too many are. Everything about the system, from medical school admissions, to how hospitals and clinics are run, encourage this foolishness and lack of empathy. Congrats on finally getting the right diagnosis, and I hope you and your daughter have been able to get the help you need to not be in pain anymore.
Excellent explanations, made a difficult topic very straight-forward to follow and come to grips with (in combination with the first two videos in this series on heme synthesis and catabolism). Thank you!
Being tested now and with what I’ve gone through for the past 8 months in and out of the ER with CT Scans Coming back fine and having a numerous amount of symptoms that are exactly this. High blood pressure, rapid heart rate, knife stabbing abdominal and back pain with no known source, breathlessness, fatigue, frequent urination and much more. I would be surprised if they told me I didn’t have it, at this point I’m almost certain this is it since it seems like all my tests especially CT scans come back normal. My blood has been off though especially my hemacrit and rbc.
This is an excellent video. I have read about the condition several times from different sources (textbooks, articles) but never really understood it or had a clear idea about it. This video made it crystal clear for me. Thanks a million!
Need to include the fact that you’re in can be normal in color when exiting the body and turn colors when left in the sunlight or exposure over time. It isn’t necessarily that it comes out of the body that color it can -but not always. There is no other known condition that causes urine to turn red brown, red, orange, red or wine, red when exposed to the sun.
Hi There, One of my relatives has been recently diagnosed with Acute Porphyria. Can you please suggest any cure or medication. Please suggest any Hospital where we can get treatment
I have this genetic defect but never really got around to learning anything about it to be honest. I've had constant pain in my back with flare ups at times that makes it so bad I have to walk up stairs on all fours with my breath held to even be able to make it and the pain level slowly subsides over 1-2 weeks, I always figured it was because of an accident I had as a kid but after watching this I'm not so sure anymore, still i assume most likely just a busted back. On a side note, I hardly ever take any painkillers and when I do it would be something like 1-2 paracetamol when my head hurts so bad I am having problems stringing a sentence together. Point being, I seem to have a much higher pain tolerance than most all the people I've met so I was curious if perhaps that had something to do with aip if anyone knows?
I wish you would be able to see my sister she is 40 years old and suffering greatly. I know they have given her some of those meds that hurt her, but no doctors are listening. It's in God's hands at this point.
So sorry to hear she is suffering. Iv been sick for 12 years without a diagnosed. I am suspecting this condition. If you don't mind me asking does eating heavy meals followed up by sugar help the attacks?
@@johnjenkins1276 actually oral glucose intake is very helpful, you can take heme replacement during attacks but i guess this is expensive but glucose is free
This is something that is almost intolerable to live with. Now my 8 year old has this. Lost my mothet at 55 due to this and a cousin that died at 19. Doctors are so uneducated about this. You HAVE to make them acknowledge and do their research
Yes I agree. I've been deadly sick for 15 years an I'm just finding out i have this. My child does to an there still telling me they dont. knowning the test came positive. No person should have to deal with this. The pain is beyond words. I wish they would actually find out what can take it away. An for more people to understand what this does an to have. a better support system on it.
So sorry to hear about your loss. I have been sick for 12 years and am suspecting this. My question is does skipping meals bring on the symptoms. I have to eat heavy meals with sugar every 4 hours so I don't get sick???
@@johnjenkins1276 skipping meals and fasting can definitely trigger an attack. The sugar isn't the important component as much as healthy carbs. My diet has to be about 70% healthy carbs to stave off an attack.
