Do you have kids? If yes, did you pass the condition to them? If they got affected, how old were they when they had their 1st symptoms? I did pass the condition to at least 2 of my 3 children. And I also wonder if porphyria makes children predisposed to autism / developmental delays.

I do have a child. so far no indications. I am not sure about the autism, speaking for myself, I could see how some of the behaviors associated with the illness could be put in the spectrum, Mine didn't become active until I was in my 40's.

I'm in my early 40s too with no autism and asymptomatic for coproporphyria but my kids ages 3 and 6 have been suffering from infancy and the only wrong thing that was found on the Whole Genome sequencing test was coproporphyria. My 6 year old already had 16 or 17 ER visits / hospitalizations for dehydration and/or vomiting. We have been seen and tested by lots of doctors. They eat same kind of food that is non gluten. No other metabolic abnormalities have been discovered. But all 3 kids and I as a kid had major feeding issues. My oldest who is now 8 and who has not been tested for coproporphyria yet had a major episode of stomach ache for 3 days at age 3 and had appendix removed only to be discovered that it was not inflamed. I'm frustrated and tired. What if they are sick now from something other than coproporphyria? Coproporphyria may be an extra "bonus" that they may start to experience later in life. It's been too much already to handle.

Do you have a hint if your coproporphyria was maternally or fraternally inherited? I don't know whom I got it from. But I wonder if being a female and passing it to your children makes things worse because I carried my children to birth and breastfeed them so if my metabolism was hindered, it could have an immediate impact on them. Maybe some other porphyria parents will chime in.

I empathize with you. sick kids is scary. I am not sure whether mine is maternal or fraternal. Was dumped at 2 so not much blood family contact. The test are so inconclusive it can be frustrating. your kids being affected so young wonder if it could be hateroporphyria.
Have you checked any of the canadian research? They and the Aussies seem to be more progressive in the research, The canadians are using medical marijuana for the digestive and muscular issues. Are your kids receiving d-10,panhematin,or phlebotomy treatments? Keep in mind I amnot an expert. The folks at university of queensland , however are, maybe you can get some insight there or NIH.

The diagnosis for coproporphyria was determined via whole exome sequencing (WES) testing on my 6 year old and myself (mostly as a reference). It showed the pathological mutation of CPOX gene that my son inherited from me. Then my youngest child was tested and it showed that she inherited the same mutation. The kids' father had no mutation in the gene. Other forms of porphyria originate from mutations in other genes. Only coproporphyria is associated with CPOX mutation.

Let's leave it aside for a moment. I wanted to ask you if your coproporphyria is reactive to exposure to sun light or if your flares up tend to happen mostly over warmer months? The reason why I'm asking is that my kids tend to do much better over winter months. Our flares up happened in the past between April and end of October. We live in the NE part of US. At the same time, my kids have clear skin (no blisters from sun exposure). For myself, I'm heat intolerant and for that reason I don't seek sun exposure for myself.

So, do you have a good understanding now what triggers coproporphyria in your body?

you are way beyond me on the genetic side of this. sun does affect me at times. most of my flares are due to chemical exposures. fumes from solvents, gasoline, paint the list goes on. I'm also heat intolerant. my biggest trouble with sun exposure is spring and fall I guess the angle allows it to shine on the parts that aren't fully covered. I wear long sleeves and britches always, I am in my sixties now and starting to develop the clawing hands. Also having difficulty with raynauds syndrome and other temperature related vascular issues. some of my worst flares have been as a result of prescription drugs, but I think we have most of that sorted now.

Actually, you might be right about Harderoporphyria. It also has to do with CPOX mutation https://en.wikipedia.org/wiki/Harderoporphyria My kids had no jaundice when they were born and no jaundice so far, but during their crises their liver enzymes may go up. My 3 year old had them elevated 12-16 times above the upper limit, then they dropped to 8 times above normal. They both had liver biopsies. She was found to have a liver inflammation but then all of the sudden things returned to normal. So, there is a hepatic involvement.

I am glad you found the appropriate spelling, I knew I messed it up (lol) ...It is amazing how fast the body recovers after the porphyrin levels return to normal. The problem with the flare ups is the neurological damage they do. At first not more than an inconvenience but in time it has a large negative effect.

Hey, sqidbilly821! I just found your post. I have Variegate Porphyria and was diagnosed in 1997 after being sick (and nearly dying several times) for over 20 years. Our types of porphyria have alot of similarities, so I wanted to tell you about what I have experienced. By the time I was diagnosed I had been partially paralyzed and now have neurological damage in my legs and feet, dexterity issues with my hands (I tend to drop things), Raynaud's, and scars on sun-exposed skin. I cannot be around cigarette smoke, dry-cleaning solvents, pesticides, anything with eucalyptus/eucalyptol in it, or be out in strong sunlight without SPF 100 sunscreen. I am also very heat-intolerant, which is a problem here in Mississippi! But I do the best I can to stay healthy, which is all I can do. I would advise anyone with porphyria to not become complacent during healthy times, because I did and took a new prescription drug (blood pressure, nifedipine) without looking it up - big mistake! I was SO sick, for nearly 2 months. So I'll never do that again. Having porphyria is a pain (in many ways) but it's not as bad as some diseases are and it can be managed.

Also, when I tell people I have porphyria and they look confused, I tell them to Google the "vampire disease" because that's easier; it has a link to the American Porphyria Foudation and information about the porphyrias on Wikipedia. It's kind of a running joke with my family, friends and me because I am a night-owl and am very fair-skinned. If people really want to understand what porphyria is I will explain the disease to them in an easy way to understand.

hi, just got back on today. been dealing with an acute episode last few months. I'll endeavour to stay in touch.and please pardon typos my hands are toast right now.

Hey, sorry you're not feeling well. For your hands being toast you're typing better than I am! It always takes me forever to type or text because I make so many mistakes, but it gets done eventually. Hope you feel better. :)

thanks, this is the most activity I'e seen on this sight in two years. hope I can be there when needed. I'm not a techno file, so sometimes I get lost in the threads. but I'll work on that.