Hello! My name is Angelique Welch (married name, maiden name: Abeare/Hebert) I wanted to post regarding porphyria and family history/trees. I was diagnosed with porphyria in 1995, but no specific type was diagnosed. Alot has happened since 1995 and I am currently waiting on DNA studies that were sent to Europe from here in Arizona by a Professor by the name of Pavel Martasek. He is responsible for disovering the mutant gene that causes HCP, the type it is believed that I have. Since DNA studies are not available for this type until next year through Mt. Sinai, I had my blood shipped outside of the US. Approximately 2-3 years ago I began to dig into my family history since I was not really sure which side the porphyria came from.
My Father Jerry Abeare passed away in 1977 in a motercycle accident, so I am not really sure if he had any problems. No one has said anything or remembered anything specific. His brother Mike (Robert) had "ezema" as a boy as a cousin remembers. The rest of this family is distant and I do not have much communication so have not found much evidence of porphyria on this side. My Mother's side of the family has not been "interested" in being testing although there is evidence of the porphyria in the family in the symptoms some have experienced.
I am not sure why I started looking on my Father's side first, but that is the line I dug up first and found many French ancestors with surnames such as Hebert, Hout, Arsenau, Boudrox and others. But no real evidence of symptoms or strange deaths. Mostly heart problems recorded on death certificates. After searching this line pretty thoroughly I realized I was "barking up the wrong tree".
I then began to search my Marternal line which would contain my mitrochondrial DNA (not sure if this means anything or not). It was here that I found links to people I never knew I had. I was surprised to find Dutch, Swedish, and Royalty ancestors in my pedigree. I have no connections (direct) that I know of to King George, but some others have popped up that I am not sure of their medical history.
I also began to question more on my Mom's side and found many members of the family with odd symptoms.
During all of this research, another porphyria patient was finding possible connections to other patients through a few surnames and individuals and I formed a "Porphyria Genealogy" yahoo group so we could meet up and post our family trees to see if we connect. So far a few of us have, but the details are still unclear, but it is obvious that a few of us connect. We are not sure how phenomenal this is but it has been alot of fun and Robin, a moderator on the groups, has began a project helping to connect all of us and possibly gain support from a certain physician that might be able to help. I recently took a break to catch some air :) but invite all porphyria patients and family members to join the groups and dig with us and maybe some of us connect.
I wanted to post and relay that if those of you with porphyria are not finding evidence of it in the lines you are currently searching, and you are not sure what line it did come through, keep in mind the many surnames you will have in your chart and keep an open mind to where you might find evidence.
Soon my DNA will be back and my family will be able to test very quickly and we will know what side of the family to test now. Please dont hesitate to email me about porphyria if you want. I am always excited to meet others with this disorder. My email is firstname.lastname@example.org
Please help us to spread the word about the disorder Porphyria By clicking on the links below, you can read about this disorder and pass this info on to others. By doing so, you will be helping all porphyria patients by bringing awareness of a disease that is considered so "rare" that most medical facilities are not familiar with it and believe they will never see a case of it, which can be extremely dangerous for patients.