Porphyria Support Group
The porphyrias are inherited or acquired disorders of certain enzymes in the heme biosynthetic pathway (also called porphyrin pathway). The hepatic porphyrias primarily affect the nervous system, resulting in abdominal pain, vomiting, acute neuropathy, seizures, and mental disturbances, including hallucinations, depression, anxiety, and paranoia.
Hi, my name is Kelsey. I am 17 and I was recently diagnosed with AIP. The past 4 years of my life have been complete hell. I have been struggling with horrible stomach aches and all over body pain. I feel like my heart is beating really fast and I have horrible constipation, sometimes I don't have a bowel movement for over 2 weeks. I have really bad numbness and tingling in my hands and feet. My mom tells me that sometimes I acted funny and seemed really out of it. Occasionally get weird twitches in my muscles. I have horrible nausea. I have lots of problems with insomnia. Over the years I have been to countless doctors. I had my appendix removed, then my gall bladder removed and it didn't help at all. My doctors told me that I have irritable bowel syndrome and fibromyalgia. They also told me that I needed to seek counseling because a lot of my pain was all in my head. I started to think that I was going crazy. My mom kept taking me to the e.r. whenever I would have a bad attack and they ended up telling us we weren't allowed back because there was nothing wrong with me. Well one day my mom was watching tv and the show mystery diagnosis came on. She saw that the woman on tv had very similar symptoms to me. She looked acute intermittent porphyria up online and was shocked at how well the symptoms fit me. She took me to my pediatrician and told her she thought that I had AIP. My pediatrician looked at her like she was a mental case, but in the end said she'd look into it and get back to us. Well, a month later my pediatrician calls and says that she thinks I should be tested, and a week after that the urine test came back positive. I was currently in an attack when we got the positive test result so she told us to go to the e.r. and she said she would call ahead of time. Well now I've been in the hospital for a week, and tomorrow will be my fourth day of hematin. My doctors at this hospital are pretty unfamiliar with AIP so I'm going to end up going to Mount Sinai hospital in NYC for a full work up. I have a pretty bad case, I have attacks very frequently. My doctors told me that there is a possibility that I have irreversible damage to my nervous system.
I'm so relieved to have found out what is wrong with me, It's just frustrating that I had to go through all I did before being diagnosed. I'm sure that is common due to the disease being so rare. Has anyone else been put through hell and told that nothing is wrong with them except something like ibs or fibromyalgia? How have you learned to cope with AIP? do you get preventative treatment or only as needed during an attack?
I've missed so much school, and this is my senior year. I just want to get my life back and go to college without feeling so ill all of the time. Any advice would be greatly appreciated, thank you.
I'm so relieved to have found out what is wrong with me, It's just frustrating that I had to go through all I did before being diagnosed. I'm sure that is common due to the disease being so rare. Has anyone else been put through hell and told that nothing is wrong with them except something like ibs or fibromyalgia? How have you learned to cope with AIP? do you get preventative treatment or only as needed during an attack?
I've missed so much school, and this is my senior year. I just want to get my life back and go to college without feeling so ill all of the time. Any advice would be greatly appreciated, thank you.
I got sick when i was a kid and told i was faking blah blah blah ...13 years later found out it was lyme disease(i was disabled by the time they diagnosed me).... cant tell you how long with any real certainy how long the porphyria would have been active because the symptoms overlap my tick borne diseases (lyme and babesiosis) symptoms. Yes I understand what it is like to be young with symptoms of a disease and no one in the medical field really helping you. I am sorry you have had to experience that to.
Someone was kind enough to give me the link to this site(it has unsafe drug list and dietary info.) It might be a good thing to let your parents look at . (i am old. but so sick my mom takes care of me i showed it to both my parents so they could understand how to help me better)
http://porphbook.tripod.com/
I am sorry you are so sick and at such a young age. I hope they can help you feel better soon.
I understand the frustration that you and your family are going through.
I live in Australia and I have seen both my mother-in-law and sister-in-law suffer terrible attacks.With my mother-in-laws last attack, she was also treated with hematin.
Since then, family members have all been genetically tested and my husband and two daughters (15,17) have all tested positive to AIP. Although, to date none have been subjected to an attack, it is always in my mind (my eldest daughter is also in her final year).
We have been provided with a website for safe and unsafe drugs (http://www.drugs-porphyria.org/languages/UnitedKingdom/s1.php?l=gbr). One medication that we have been advised to stay away from is the oral contraceptive, and I am currently investigating any alternatives with minimal side effects.
I hope your treatment is going well and now you have been diagnosed, I hope that it becomes more managable. Remember to watch your diet, keep glucose on hand incase you feel an attack coming on and try not to reduce your carbohyrate intake too much.
Once you get on top of this, maintenance is the key.
All the best
PS. If you learn anything that may be of help to us, please let me know.
I went through pretty much exactly the same problem as you, except i only suffered my pain for a year before they tested for AIP. I got told over and over that i was faking the pain for attention, and that i should also go get counselling. I was just diagnosed a week ago with AIP and the only treatment the hospital here will give me is a 10% glucose infusion, ran over 15 minutes and then 5ml of morphene that they also put through a drip. I noticed it helps with pain, but only over a short period of time. I get my pains for a week a month, just after i finish my period, which is also common for females with AIP. I have asked my docters about treating me with Hematin injections, but they refuse. Recently the pain has been getting worse and worse, but as i am in year 11 at school, i cant afford to miss to much, without falling behind, or failing, so i try and put up with the pain.
Do you also get a rash with your AIP? Cause i have noticed, over the past year, i have gotten this rash, that looks absolutely disgusting, and nothing will work on it. I have tried pinetarsal baths, salt water baths, moisturiser with pine tarsal in it.. nothing will work.. IF you get a rash, what do you use on it, and does it work?
i hope you are feeling better soon,
i look forward to hearing from you.
cheers. xx
Please take good care of yourseld, I do feel for you,
Mary - Englan
My symptoms followed your's so closely I'm still wiping the tears. I would call you lucky .. as luck can be stated. I went undiagnosed for 11 years ( I'm on my 18th year with this ) I too had my appentix and gallblader removed and I swear if there were other organs to be removed they would have done that too .. lol .. The only difference is that I did not have constipation .. I went to the other extreme. Maybe this was better ?? My savior in ER was my sister-in-law whom is an RN and works in ER. I live in a small rural town .. I think that help in the ER but might have been the reason it took so long. I endend up at a major teaching school in a major city, the doctors reported that I was nuts, that my symptoms changed to often and it was all in my head and they gave up on me. I went to a Mayo Clinic ... not much help there either. A rheumatologist dianosed me ( I was there because of my leg pain . maybe restless syndrome )
So here I am .. 18 years wiser.
Watch your diet! There are large list of foods and drugs listed at http://www.porphyriafoundation.com/ . I'm also cannot eat anything with onions ( cooked are worse ) and strangly enough ~ cinnamon ~ wierd I know. You need to remove stress .. find a way .. exercise .. meditation .. find a way! Once your there, you will figure out what foods mess with you as I'm told that AIP is not systematic per person.
Please take care .. please watch your diet .. keep your loved ones close and don't let anyone tell you it's in your head.