A Patient’s 22-year Journey to Diagnosis of AHP [transcript][audio]

Guest: Evelyn Jacobucci  

Presenter: Neal Howard

Guest Bio: Evelyn has been living with porphyria for almost 30 years. Her personal experience with this devastating disease, including her difficult 22-year journey to diagnosis, and the significant social and economic impact it’s had on her family and four children causes Evelyn to live with the fear that she has passed this disease on to her kids and keeps a close eye on her teenage daughter for potential symptoms.  

 Segment Overview: Evelyn Jacobucci discusses her 22-year journey to a diagnosis of Acute Hepatic Porphyrias (AHP), a family of rare and life-threatening metabolic disorders that cause incapacitating and potentially fatal attacks for days or weeks at a time.


Neal Howard: Thanks for tuning into the program. I’m your host Neal Howard here on Health Professional Radio. We’ve been doing a series on AIPs. They’re a family of rare life-threatening metabolic disorders that affect women three times more likely than men. And many women feel that living with this condition makes life less than worth living. Our guest is a patient with AIP. Her name is Evelyn Jacobucci and she’s here to discuss her 22-year journey to a proper diagnosis of AIP. Welcome to the program Evelyn. How are you?

Evelyn Jacobucci: Thank you. I’m very well. Thank you.

N: So give us a bit of background about yourself. What is it that you do and how did you come to be diagnosed after 22 years with AIP?

E: Well, I’m a stay-at-home mom. Right now, I have 4 children, 14, 6, 5 and 4. I am a former federal officer for Homeland Security. I started being sick when I was 8 and I wasn’t diagnosed until I was 30.

N: So when you started getting sick when you were 8, all you know is that you’re sick. What types of symptoms were your parents having to deal with in retrospect and how were some of those symptoms persistent throughout the years?

E: I started getting really bad headache which were diagnosed with migraines originally. I would get bouts of severe nausea and all of these continued to this day. My abdominal area was hurt and intermittently, vomiting, diarrhea, none of them really connected. Although a lot of them they just connected to migraine.

N: We’re talking multiple misdiagnosis. Were there any of exploratory procedures done to try and pinpoint exactly what was wrong with you?

E: Oh many, many. I had more MRIs and CAT scans that I can count. At 16, I started having laparoscopic surgery to correct when I did have endometriosis. And initially, they thought that that might be the root cause of it all. So I begin to have laparoscopic surgeries repeatedly. And throughout my early adulthood life, I had probably 8 of those. And then I had a couple of surgeries to repair what they thought were hernias, abdominal hernias. And then I had my gallbladder removed and my appendix removed. Basically out of desperation, there wasn’t a whole lot wrong with them but it was sort of ‘let’s just try and see if this works’.

N: So you’re a teenager and all of these things are taking place. What about your social life hanging out with other kids, other young adults as this process is going on?

E: That’s twofold. I think porphyria also causes anxiety. So there was some social anxiety there as well. And I was homeschooled so that kind of creates a little anxiety and a little bit awkwardness. But I was homeschooled mostly because I was sick a lot. And so I was involved in my youth through the church and that was a good social life but I struggled because I couldn’t really plan to do anything and that’s still a struggle for me because I never know how I’m going to see all day-to-day. So it really did create chaos in my social network.

N: Speak a little bit about maybe your frustration at meeting each new practitioner and having to tell them what’s been going on with you and possibly encountering them being less than receptive to what you’re saying because they said, “Well, you’ve been through all these things and here you are with me.”. Talk about some of the frustration in getting the conversation started with a brand new practitioner hoping that this time he may be able to help you.

E: Well initially, you’re hopeful. You’re really hopeful that this might be the answer. But it usually ends in heartbreak and distress. You’re frustrated and it usually ends in, “Well, there’s nothing wrong with you. We’ve done all the blood tests. We’ve done all the urine tests and you’re fine. We’ve done a CAT scan and MRI and you’re fine.”. Most of them were really sympathetic but there are those who were just, especially as a teenager, “You’re a hypochondriac. There’s nothing wrong with you. I don’t know there’s got to be something mentally wrong with you.”. So then it just ends in frustration and you kind of start closing in on yourself. You just don’t want to share your pain with anybody. And so, you stop telling anybody that you’re hurting which is really dangerous. That’s a really dangerous route to teach, to start down because, ‘Boy, that can really hurt you’, and it did. But nobody believes you or nobody can tell you what’s wrong. That is really the tough reservation I guess.

N: How are you managing today? I mean have you discovered any support groups? Have you discovered maybe family support that may or may not have been there in the past? I can’t see a family not being rallying around you. But what type of support groups and management techniques are you implementing today and would you advise all of those suffering as you do with the same techniques?

E: So I have an amazing support network. I have a lot of Facebook groups that I belong to. The American Porphyria Foundation, they have so many incredible groups that they have on Facebook and on the internet that are just amazing and it’s a group of people that are suffering just like you and I think for so long, you feel so alone. And suddenly, you find this group of people that did really do know how you feel and that is so validating. And I encourage everybody if they are diagnosed with porphyria to get in touch with the Porphyria Foundation and find a group. And they do have different groups for different subtypes of porphyria which is amazing because each subtype is so different. And your friends that are rallying around you know exactly what you’re feeling because they go through it themselves every day. And I have an incredible family and I live with my parents currently, which is amazing because you definitely need that backbone of support and when you don’t feel good, it can be really frightening especially as a parent, “Oh my goodness what am I going to do with my kid.”. And so I encourage everybody to find that, find friends that are willing to watch your kids for you or to just be a phone call away and so to have family and friends that will do that. I encourage everybody to just act. I think that’s the one thing that most people with chronic disorders tend not to do is to ask for help. It can be a little intimidating or make them question their self-worth. But I think you’d be surprised how many people will step up to help you and stand beside you if they’re just asked and they know, you tend to shut down and not tell anybody. So definitely, just say, “Hey, I’m hurting and I need some help.”. I think you’d be surprised how many people step up.

N: Talking about your family, you’re a mother of four kids in varying age levels. In addition to all the other things that you have to deal with dealing with this condition, is this something that can be genetically passed on to the children. And if so, what are some of the things that you’re doing to kind of keep a handle on it and stay ahead of it just in case one of your children might have it?

E: Sure. It is absolutely genetic. And I was adopted. So there’s not a whole lot of family genetic history that I knew. But once I was diagnosed, I do have contact with my biological mother side. And after finding out my diagnosis, I really encouraged my two half-sisters and my biological mother to get tested and it ends up that they are all positive for the gene and one of them has full-blown AIP as well. And so, knowing that our genetic component is there and it definitely is a concern for me, for my children, especially my girls. So it doesn’t usually show up and how you are in puberty. For me it just happened to show up a little earlier. And my 14 year old is the one that we’re watching the closest right now and she is just incredibly amazing and she is willing to talk to me. I really encouraged an open dialogue with her about how she’s feeling, so that should I sense any one of those symptoms come up that I can get her in and be tested. So there’s genetic DNA testing that you can do and for your kids and I believe that they can do it even when they’re younger. Although it definitely is better when you’re older and thru puberty. I just keep a closer eye on them than most normal parents would, I guess.

N: Well, where is a website that maybe some of our listeners can go to? The American Porphyria Foundation, is that one of the best options online to get some more information?

E: It is absolutely one of the best. American Porphyria Foundation is absolutely one of the world’s leading places to go to find out more information on testing, treatments diagnosis and then of course, any other questions that you might have in support groups and they have some of the most world renowned specialists in porphyria there and they are just incredible and they are willing to step up and help anybody. And I would really encourage people if they have even an inkling that they might have it or they might know somebody, go in and find out, get some more information from there.

N: Well Evelyn, it’s been a pleasure. Thank you so much for coming in and talking about this very personal, very important issue and I’m hoping to have some future conversations with you.

E: Yes. I look forward to it. Thank you.

N: You’ve been listening to Health Professional Radio. I’m your host Neal Howard. Transcripts and audio of the program are available at healthprofessionalradio.com.au and also at hpr.fm. Subscribe to this podcast on iTunes, listen in and download at SoundCloud and be sure and visit our affiliates page when you visit us at hpr.fm and healthprofessionalradio.com.au.

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