How You Can Show Support During Porphyria Awareness Week: April 21-28th
It is Porphyria Awareness Week (April 21-28th). Acute hepatic porphyrias (AHPs) is a family of rare genetic diseases characterized by potentially life-threatening attacks and debilitating symptoms. AHPs mostly affects women between the ages of 20-30. AHPs patients worldwide unite this week, raising powerful voices in an effort to turn the tide of this devastating disease.
What is AHPs?
AHPs is considered to be an ultra-rare condition with only an estimated 5,000 people throughout the United States and Europe suffering one to two agonizing attacks annually. Another 1,000 patients with AHPs are ravaged by attacks so severe and frequent that they require lengthy hospitalizations multiple times a year. Symptoms of AHPs include:
- Severe abdominal pain
- Respiratory failure
AHPs cripples patients’ lives by imprisoning them in an unpredictable body, subject to attacks of excruciating pain and other debilitating symptoms without warning. Unfortunately, there are no approved treatments to prevent such attacks and treat the chronic symptoms of AHPs at this time. Research is underway in the field, but due to the varied nature of acute hepatic porphyria’s symptoms, this rare disease is often misdiagnosed as a more common disease with similar symptoms such as Irritable Bowel Syndrome (IBS), appendicitis, fibromyalgia, and endometriosis. Many patients with AHPs often suffer for up to 15 years without an accurate diagnosis.
In honor of Porphyria Awareness Week, I had the privilege of conducting an interview with Dr. Bruce Wang and Mary, a patient impacted by AHPs for over 20 years. Dr. Bruce Wang is an assistant professor at the University of California and San Francisco School of Medicine. Dr. Bruce Wang is also a member of the UCSF Porphyria Center and the Porphyria’s Consortium, specializing in AHPs and AHPs research.
Acute Hepatic Porphyria Interview
Kaitlin: Imagine feeling isolated, like your life is being taken over by painful and debilitating symptoms. This is what it can be like for people with acute hepatic porphyrias, or AHPs - a family of rare genetic diseases characterized by potentially life-threatening attacks. If you’ve never heard of AHPs, you are not alone. Many patients are often misdiagnosed or remain undiagnosed for up to 15 years.
Joining us today is porphyrias specialist Dr. Bruce Wang of the UCSF Porphyria Center and the Porphyrias Consortium and Mary, who has been living with this condition for the past 20+ years. Welcome!
Dr. Bruce Wang and Mary: Thank you!
Kaitlin: Dr. Wang, can you help us understand a bit more about this disease and the general signs and symptoms patients may experience?
Dr. Bruce Wang: Sure, so the acute hepatic porphyrias are a group of four rare inherited diseases. It primarily affects women during their reproductive years, and it presents with severe, (potentially life-threatening) acute, episodic attacks of neurologic damage. The most common symptoms are severe abdominal pain, but patients can also develop symptoms like numbness, weakness, fatigue, and even mental status changes.
Kaitlin: Wow, that sounds very debilitating. We've mentioned patients can sometimes go up to 15 years before receiving an accurate diagnosis. How is that possible?
Dr. Bruce Wang: So, it is for two reasons. The first is that because these are rare diseases, physicians oftentimes do not think of it as a potential diagnosis. The second reason is that the symptoms, during an acute porphyria attack, are nonspecific to the porphyria. They may look like a lot of other more common disorders. This is another reason why the diagnosis is oftentimes not made.
Kaitlin: Where can people go for more information?
Kaitlin: Oh, wonderful. As a specialist, do you think that this disease has become more prevalent in recent years?
Dr. Bruce Wang: The prevalence of the disease probably has not changed. We're hoping to increase awareness of it amongst patients, but more importantly, amongst healthcare professionals so that this disease will be more accurately diagnosed.
Kaitlin: I see. That makes sense. Do you see a prevalence in certain countries, or is it just an occurring phenomenon worldwide?
Dr. Bruce Wang: So this is a disease that occurs across all races, and it is present in the United States and in Europe, as well as in Asia.
Kaitlin: I see. Well, I am very interested now because I had not heard of AHPs until this interview. I think it's very important for awareness to be raised over things like this, especially when so many people live with AHPs on a daily basis. They need answers. I'm hoping that this interview will help other people if they are experiencing some of these symptoms and need to better understand it.
Dr. Bruce Wang: That’s correct!
Kaitlin: I have some questions for Mary now.
Kaitlin: Dr. Wang has been talking about the twists and turns of this disease and possible misdiagnosis. Does this sound familiar?
Mary: Absolutely. I was sick for 18 months. I had had 12 attacks before I was finally diagnosed. My experience was actually a very quick diagnosis compared to many, but during those 18 months I had several misdiagnoses: ulcerated Colitis, splenic flexures syndrome… I was given every scan, scope, blood, and urine test that they could think of and everything came out perfect. I would look like a perfectly healthy person, but for several days every month I couldn't even walk enough to get out of bed and walk to the bathroom. I was in so much pain and so weak that I would actually crawl to the bathroom.
Kaitlin: That sounds so debilitating and frustrating. I know IBS can be similar to that. Did anyone think that's what you had at first?
Mary: They were trying to explore the stomach pain which is not localized. It's general. It feels like a million burning swords stabbing into your stomach, but at the same time your legs feel like they're broken glass. It feels like you may have lava in your veins. There are so many different pains going on at once. Because the stomach pain really stands out above all the others (and you're crunched over in pain), usually they do start looking at the gastro problems assuming it's a gastro problem before exploring other avenues.
Kaitlin: Thank you so much. I just want to take a minute and thank you for having the willingness to increase awareness about your disease. That is definitely an act of courage on your part.
Mary: Thank you very much, and thank you for helping us get the word out.
Kaitlin: Oh, absolutely. I have relatives with several health conditions like autism for example, and I understand how it can be on a personal level to try to increase awareness about health conditions. Can you share a bit more about your journey and how it has led you to this point?
Mary: I have now been on disability for 18 years due to this disease because my daily pain and weakness is so debilitating. I used to work at a bank, I used to own a home, I used to be a productive member of society, and this disease has taken all that away from me. When you have a debilitating disease, you also kind of end up losing friends because they'll only call so many times and hear excuses so many times before they stop calling. So it really changes your entire life once it's triggered and comes out of nowhere. You're just put onto a rollercoaster ride. I think by getting awareness out, the quicker people can be diagnosed. Maybe they can avoid some of the nerve damage and other things that happened to me prior to my diagnosis.
Kaitlin: What does your day to day care look like with this condition?
Mary: I used to have monthly attacks and almost every month I was hospitalized for them. Since I’ve gotten older and had an early menopause, I no longer have the hospitalized monthly attacks. I’ve basically gone chronic so I have low grade grumbling porphyria which is what one of my doctors called it. Basically every day I feel like I have a really bad flu.
Kaitlin: Oh, that's just terrible. That must be so frustrating. Do you ever have days when you don't have that or is it a daily thing?
Mary: The pain is a daily thing, but the weakness, the nausea, and the stomach pain go up and down. That’s not counting the times that I go full blown. On a day like today, you probably wouldn't know that I'm a person on disability. However, tomorrow after the rigors of today, it could be a completely different story. We just don't know from day to day what our health is going to be like. Just a little physical stress can put us down.
Kaitlin: Absolutely, and it is such a sacrifice for you to be doing this and we really appreciate that.
Mary: Thank you!
Kaitlin: How has your life been affected by AHPs?
Mary: Like I said, I used to be a homeowner. I used to travel the world for business, and now at 50 I live with my father and he supports me. I don't travel anymore. Basically, it shrunk my life because my life used to be the whole world. Now my world is my bedroom.
Kaitlin: I’m sure a lot of people can relate with other debilitating health conditions, such as people with multiple sclerosis for example. It must be hard to explain to people though because it is a rare health condition, and they might not have ever heard of it.
Mary: Right, but developing a debilitating disease is developing a debilitating disease no matter what it is.
Kaitlin: Absolutely! Well, that concludes our interview for today. Thank you so much for being willing to come out and raise awareness despite the fact that you might suffer tomorrow because of it. We really appreciate that. You are such a brave warrior for your condition, and we just really appreciate you. Dr. Wang, thank you for all your insight regarding this disease, and your willingness to conduct this interview.
Dr. Bruce Wang: Sure, thank you!
Mary: Thank you!
Patients with AHPs often are forced to live an isolated life due to their debilitating symptoms. They ache to be understood, not abandoned by their friends and family just because AHPs is a frightening condition that undermines the quality of life for AHPs patients. To support someone with AHPs, let them know that you care and that they are not alone.
Dedicated researchers have devoted countless hours in search of a treatment for AHPs, and every day AHPs warriors wait desperate for hope and hungry for answers. This week our hearts suffer along with these warriors whose brave existence often comes close to being unbearable in ways we can scarcely fathom. The words of Thomas Carlyle echo the hearts of all patients with AHPs: “He who has health, has hope; and he who has hope, has everything.” Together we, the tide of humanity, must support our valiant AHPs warriors and cling to hope because hope alone has the power to heal hearts in the face of untold suffering.