Story of a Patient Living with Variegate Porphyria [transcript][audio]

Guest: Sharon Dill

Presenter: Neal Howard

Guest Bio: Sharon was diagnosed with Variegate porphyria, an even more rare form of acute hepatic porphyria, at the pinnacle of her career as a human resources executive. Like acute hepatic porphyria, Variegate porphyria is a rare, inherited disease that causes severe pain and nausea but is also associated with skin issues, such as blistering and sloughing. Since receiving her diagnosis, Sharon is no longer able to work and experiences chronic pain and nausea daily.  

Segment Overview: Sharon Dill discusses her diagnosis of Variegate Porphyria, part of a family of rare, life-threatening metabolic disorders, known as Acute hepatic porphyrias, that cause incapacitating and potentially fatal attacks for days or weeks at a time.

TRANSCRIPT – Porphyria

Neal Howard: Thank you so much for tuning in to the program. I’m your host Neal Howard here on Health Professional Radio. Pain is a fleeting sensation for many of us, but for some women, acute debilitating pain that first appears in their 20s or 30s can actually rob them of their prime, limiting their ability to go about their daily lives for years at a time. Imagine if you’re waking up with extreme pain for more than a decade. Our guest is Sharon Dill. She was diagnosed with porphyria almost two years ago. She’s here today to talk with us about the dramatic impact that this disease has had on her health and her career with pain that is so bad some days that she can’t even get out of bed. Welcome to Health Professional Radio and thank you so much for taking the time with us Sharon.

Sharon Dill: Neal thank you for having me on your program and giving me the opportunity to talk about porphyria and hopefully provide some education awareness about this important medical condition.

N: What is this disease?

S: I’ll try to boil it down it in a pretty easy nutshell. Our bodies all have hemoglobin, red blood cells. A component of hemoglobin is something called heme. Basically when you have one of the acute hepatic porphyria (AHP), your body’s process in making heme breaks down. That is caused because an enzyme in your liver which is trying to match up with a porphyrin, we all have porphyrins in our body, that there is no enzyme for that porphyrin to build, to match up with. That causes a toxic level of porphyrin and porphyrin precursors to build up in your body because there’s nothing to match with the enzyme to then create the heme. When that happens that toxicity causes damage to the body’s different nervous system. And can result in significant pain, nausea, vomiting, different things like that, that can just be life-altering.

N: Were these symptoms that you just described, were they all of a sudden symptoms prompting you to say, “Hey there’s something going on here, a big red flag” or were there other symptoms that were more subtle that led you to believe that something may be wrong?

S: Well what happened was, I was in the prime of my life both physically, professionally everything was going right. I had bought my dream house about a year ago. I was the Chief Executive HR officer of the largest hematology/oncology practice in Florida. I had gone on a twenty mile bike ride the day before on a Saturday. And on Sunday morning I woke up I took one step out of bed and literally said, “Aw!”. I had a pain in my side and it quickly progressed from that pain to just abdominal pain that would leave me doubled over, it was hard to walk. I was so nauseated. I couldn’t eat and I went as people will do to go to the doctor to have different tests done. I had all the typical test one has when they’re complaining of severe abdominal pain and nausea and the good and bad news was that all the tests were coming up negative. That there was nothing wrong with me.

N: So how long did it take for you to live with this pain and this debilitating condition before some healthcare provider was actually able to give you some answers?

S: Neal, believe it or not, I was one of the very, very lucky ones. It only took about two months and that is because in my position working for the hematology/oncology practice I happen to be talking to one of our physicians who even the other doctors would say he’s freakishly smart. And after, I’m on a phone of telling him what was going on and him asking me a few questions, he paused and he said, “Yeah, you have this really weird and rare disease called porphyria.”. And believe it or not that was the start of my diagnosis. He then referred me to another one of our physicians who was closer to me geographically. Told me to go in and see him, tell him that I had porphyria and he said he will scratch his head and said, “No, no, one ever has it.”, but because it’s you and I, he’ll run the test and then you guys call me in two weeks when I’m right and you have the lab test back and that’s exactly what happened.

N: That is amazing, astounding that someone who would have such a closed mind about something especially being a healthcare professional in this day and age when anything is possible.

S: Right. Well I think it is such a very rare disease and I really try not to blame health professionals. If you think about all of the things that doctors and nurses and ARPs learn and have to know and to be aware of something, so my new that it occurs in so few people in the population. It is somewhat understandable and porphyria is often called the little imitator, because the symptoms are so much like everything else. I was very fortunate that in my position I was able to talk to physicians and was talking to one who just somehow pulled that out of his bank of knowledge and said, “Yeah. This is what you have.”, but many people, Neal, go 10, 15 years before diagnosis and undergo numerous unnecessary procedures for gallbladder and appendicitis and different surgeries and that’s not the problem. It’s porphyria and their journey to diagnosis is so much more difficult than even mine was.

N: You said that you’re not trying to blame physicians per se for overlooking it or being closed-minded. What would you tell health care providers when it comes to dealing with porphyria when they hear it? What would you tell them in order to give the best care to future patients?

S: Great. I think there’s two things. I think there’s the diagnostic part and certainly it’s not something and there’s a saying in med school I hear that when you hear ‘hoofbeats think horses not zebras’. But once you’ve done your due diligence to rule out the other common things that could be causing those symptoms, then to think maybe it is porphyria. That the tests to diagnose porphyria are not difficult. It’s just that you have to test for that because it only shows up and tests when you’re testing for those toxins that build up in the body. The second is if the patient tells you they have a family history of diagnose porphyria, it’s no longer a rare disease in their family. Because it is genetic, a child of someone who has porphyria has a 50/50 chance of having it. That’s another important thing for physicians to understand is that if someone in the family has already been diagnosed, there’s a good chance your patient has that. Then there are the physicians that treat people who have it and I would just say to be open to learning, to working with the different experts in the porphyria community, to treat the illness and to be willing to work with our other health care providers in a very collaborative setting to treat porphyria patients.

N: Talk about how you’re managing the day and some of the details of the treatment that one would expect when properly diagnosed.

S: Sure. Every day is a new day. It’s very difficult to predict from day to day and sometimes even hour to hour on how I will feel. There are basically good days and I characterized a good day as when my medications work pretty well. There are bad days when you just want to curl up in a ball and you just can’t get out of bed because the medications don’t work at all. The medications that some of porphyria generally has, an IV infused medication called panhematin and that is done in a healthcare setting either outpatient or inpatient. It’s an extremely expensive medication and it can cost anywhere between 7,000 and 16,000 dollars a dose. An individual in an acute episode may need as much as 15 consecutive days of that medication.

N: Wow.

S: Many people are not able to work, like myself and if you don’t have insurance and you’re facing that type of long term medical expense, it’s daunting and it’s scary as heck. The other thing is because porphyria causes such intense pain, people with porphyria do tend to be on long time, long term pain medications. As a population especially here in the United States, we’re facing a really difficult time where good minded people are trying to fight the opioid epidemic but they also need to understand that there are people like myself that if we are not allowed to get our medications we’ll just be in the hospital for long periods of time. Because we will not be able to function without our professionally provided pain medications.

N: Now where can we go and learn more about this disease and some of the treatments that are available?

S: Sure. I would recommend, depending on the audience, to great sources of information for everyone both laypeople and health professionals, the American Porphyria Foundation which is porphyriafoundation.org has excellent information. All of their medical information is reviewed and provided by the scientific advisory board which is made up of porphyria experts from across the country. Like everything, if you go on the internet you’re going to find all sorts of interesting things. If you go to the Porphyria Foundation you can be assured that is scientifically medically proven information. The information is geared for patients, for family members and also physicians. They will also send your permission to your position for your charge information about treating the porphyria patient. Another source of information I think is very helpful is the National Institutes of Health on their rare disease sections of their website, provides great information for patients.

N: Sharon, it’s been a pleasure. Thank you so much for sharing your story with us here today on Health Professional Radio. I’m looking forward to following up with you and seeing how things are going for you in the future.

S: Neal, thank you very much. I really appreciate the opportunity to speak to you and to your audience this afternoon.

N: Thank you. 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. You can subscribe to this podcast on iTunes, listen in and download at SoundCloud and be sure and visit our affiliate page when you visit us at hpr.fm and healthprofessionalradio.com.au.

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