Voices of AHP
Hear from the people about their experiences living with acute hepatic porphyria (AHP)
Voices of AHP is a platform filled with real stories from real people about AHP. These stories may help encourage those who may be undiagnosed to recognise and understand the symptoms of AHP and how they impact the lives of people with AHP.
TWO OF ME: LIVING WITH PORPHYRIA
A story of human strength, perseverance and survival, chronicling the lives of seven people around the world living with acute hepatic porphyria (AHP), a debilitating, rare genetic disease characterized by excruciating attacks and, for some, chronic symptoms. The film is directed by Emmy-nominated filmmaker Cynthia Lowen and sponsored by Alnylam Pharmaceuticals.
People living with AHP can often wait up to 15 years to receive an accurate diagnosis. Help close this gap by telling 15 people about the film to raise awareness of AHP.
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Sue, living with AHP
"I’m advocating to try and make sure there’s a lot of awareness, disease awareness. To make sure that my little girl doesn’t suffer, in the same way that me and my sister have. Because no one should suffer in the way that we have."
Alicia, living with AHP
"So you’ve always got to take every day as it comes, and hope that you’ll get through the attack with your friends, your family, the medication, the doctors, so you can carry on and have a future."
Voices of AHP Podcast Series
Voices of AHP is a podcast series aimed to raise awareness of AHP and highlight what it’s like to live with this chronic rare disease.
Tune in to hear people living with AHP and members of the AHP community share their personal experiences and tips for others.
ALICIA & SUE
LET’S TALK ABOUT
Initial symptoms and the journey to diagnosis
EPISODE 1 ALICIA & SUE
In this episode of the ‘Voices of AHP’ podcast, Alicia shares her experience of living with acute intermittent porphyria with Sue from the British Porphyria Association, who also lives with AHP. They talk about Alicia’s initial symptoms and the journey to diagnosis. Since her diagnosis, Alicia has worked to increase awareness of AHP and has met other porphyria patients around the UK.
Voices of AHP Episode 1 Sue: Welcome to the Voices of AHP Patient Podcast series. I’m Sue Burrell and, first and foremost, I’d describe myself as an AIP patient and a mummy and sister to people who have active AIP or have inherited the gene. I’m really passionate about raising awareness for the acute hepatic porphyrias, which are also known as ‘AHPs’. As a result of all of this, my career has become completely focused on patient advocacy work for all of the different porphyrias. And I work for the British Porphyria Association, which I’ll refer to throughout as the ‘BPA’. And I’m also the President of the Global Porphyria Advocacy Coalition, also known as GPAC.
I’m excited to introduce you to the AHP Patient Podcast series, which will focus on raising awareness and understanding more the journey of what it’s really like to live with acute porphyria. It will focus, not only on the physical effect of the disease, but also on the emotional and psychological impact and the effect this has on the patient, their friends and their families too. This first episode will focus on the journey to diagnosis from a patient perspective and I’ll shortly introduce you to a lovely patient who has kindly agreed to talk with me about her symptoms, her journey to diagnosis. And what her life is like now, in the hope that we can raise further awareness of what life is really like living with this chronic, rare disease.
I’ll now give you a little disclaimer. This podcast was produced and funded by Alnylam and is available to the public for information purposes only. It should not be used for diagnosis or treating health problems or disease. It is not intended to be a substitute for consultation with a healthcare provider and please consult your healthcare teams for further advice. The impact of the symptoms of porphyria described in this podcast are based on patients’ experiences and perspectives of living with a condition, described in their own words, and not all people living with the condition will experience the same symptom.
I’m delighted now to introduce you to Alicia, who is a patient living with acute intermittent porphyria – also known as AIP. Hi Alicia.
Alicia: Hi Sue.
Sue: Would you like to tell everybody a little bit about yourself, Alicia?
Alicia: Yeah, of course. So I’m Alicia and I got diagnosed with acute intermittent porphyria – otherwise known as AIP – back in March 2014 and I’ve now been living with it for just under six years.
Sue: Lovely, thank you. I was wondering if you could start by telling me a little bit about what your life was like before you started with porphyria, before you were diagnosed.
Alicia: Yeah. So before diagnosis with AIP, my life was pretty normal. I was working by the age of 15 at my local chippie, and most weekends, I was out with my school friends, going shopping, before we reached 18, and then partying and as soon as we reached 18. I’m still in contact with my first employers and I wouldn’t even call them my employers. I’d call them my Greek family. They taught me some really important life lessons and skills that I still use every day now.
Sue: That sounds like great fun, and might feel like a complete distant memory now.
Alicia: Yeah, definitely.
Sue: So maybe we can fast forward a little bit now and you could tell me what it was like when you first started to experience signs of AHP, and what symptoms you had at that time.
Alicia: Yeah. It all started just because I caught a simple chest infection and any – and like everyone else, or any other normal person, I went to my doctor to ask for some help, so for some antibiotics. What we didn’t know is that porphyria attacks can be triggered by certain medications. And within two days, I started getting the symptoms of all the tummy pains, the sickness, the fatigue, the confusion, hallucinations, but I just continued to work and carry on with my normal life. While I was at work, I started having all the problems with my breathing and the pain in my tummy was horrendous, like so crippling, that my employers rang my mum and the ambulance. Before I knew it, I was getting rushed into hospital.
To be honest with you, I can’t really recall what happened for the next ten days, but according to my family, it was the most terrifying thing they’d ever seen. I wouldn’t stop crying in pain and I was very, very reluctant to allow people to just touch me. I wouldn’t eat, I wouldn’t sleep. I just wanted the pain to stop. I didn’t want to be here. We didn’t know what was going on. I wanted it all to end, however that end may be.
Sue: Goodness Alicia. Thank you for sharing that with me. I really can relate all too well to what can only be described as terrifying for the family when they’re looking on. I had a sister who was desperately ill when I was young and it was so scary watching the disease unfold. And your description of just wanting the pain to end resonates so loudly with me too on a personal level. Thinking back to that first hospital stay, can you remember what tests they did, if any, whilst you were carried out in hospital
Alicia: Yeah. So I was tested for all types of cancer, countless amounts of infections, for a hernia – because of the pain in the tummy – but they just all came back clear.
Sue: Yeah, that sounds a really familiar AIP story that we regularly hear on the BPA helplines – lots of different tests and often no conclusions. So when was it that AIP was actually considered as a possible cause for the symptoms that you were having?
Alicia: So at the time, I wasn’t speaking to my dad, or my dad’s side of the family, but because I was so desperately ill, my mum got in contact with them and said, “Look, you might want to come and see her, she is really, really poorly.” So they did come and see me and it was found out that my nan on my dad’s side of the family has porphyria and whether had I been tested for it. But no one at the hospital had ever heard of porphyria, but it took a professor from a university London hospital to organising the testing. And within two days, I was given a diagnosis and medication to treat the porphyria attack
Sue: I’m actually really pleased that you were diagnosed so quickly. Often, it can take many months or years for acute porphyria to be considered. But because there was that little family link, it aided that speedy diagnosis, which is really good. But what time – if you can remember – were you provided with any kind of support or information or resources? Or did you get any of those things when you were first diagnosed?
Alicia: Yeah. No, nothing. We wasn’t given any kind of leaflet or booklet explaining what porphyria was, like you would get with any other common diseases. It’s just nothing. You’re left on your own. That’s it. And I was only 19 at the time and it was really hard and really difficult to understand that I was different, that I now needed to be extra careful. But after six years – coming up to six years – I’ve just learnt a lot about dealing with AIP.
Sue: I’m really pleased to hear that you’ve learnt some new ways to manage your AIP. It’s really good. I was thinking that, in order to give more insight into how people are affected, it would be good to ask you a little bit about your actual AIP attacks. Maybe you could tell me how regular they are and do you know whether you have any triggers for them?
Alicia: Yeah. So every single period after my first attack caused me to have recurring attacks, landing me in hospital for no less than two weeks at a time. Because of this, the decision was made to medically stop my periods to see if this would help. And it did for nine months. It was great. But it just came back.
Sue: Thank you for being so open – Alicia – about how you’ve been affected. It really does sound to have been a difficult time. Can you even remember how many attacks you’ve had or if there’s any specific triggers that are causing the attacks that you have?
Alicia: Yeah. So I’ve now had 22 porphyria attacks in just under six years and I’ve learnt that my attacks are mainly triggered by infection and stress. But usually, if I’m working or going out and doing things non-stop for five or six days, my body will go, ‘what on earth are you doing?’ And the pains and the tiredness will all start again.
Sue: Yeah. Goodness, that must be very hard and must have taken some adjustment to try and have some kind of normal life?
Alicia: Oh, yeah, definitely.
Sue: To help people understand what it’s really like living with AIP, it’d be good if you could try to explain how each attack affects you personally.
Alicia: Yeah. So every attack continues to damage the nerves in my legs, causing me to have a symptom called ‘drop foot’, which is where my foot doesn’t connect with my brain properly. So my foot leans to the left and I don’t have the sensations in it, and I try to move it, but I can’t move it. It just doesn’t connect properly. This causes me to have limited movement where I have to go back onto crutches and attend regular physiotherapy. Even between attacks nowadays, I can trip or I can fall.
Sue: I’m really sorry to hear about the nerve damage and the falls, Alicia. It’s really inspiring, the way you just keep getting back up every time. So what I’d like to do now is, try – if it’s OK with you – to explore this a little bit further. And would you be able to tell me about what your worst attack has been like?
Alicia: Yeah. So my worst attack was life-threatening. It was a life-threatening attack and it caused me to have paralysis and six months in two different hospitals. I was really poorly. And I soon learnt that if I didn’t start listening to my doctors or listening to my own body, I could die. During those six months, there were times where my mum and my family were told I wouldn’t make it. I had to learn to walk again, because the porphyria had caused the excessive amount of nerve damage to my legs. Everything I touched, the sensations just felt really weird and I didn’t like people touching me at all.
Sue: It’s heart-breaking to hear about the physical and then the emotional effect that has on you and then your family as well. It’s – these devastating attacks, they really are rare, but they’re petrifying for the family and the patient.
Sue: I know the trauma of these attacks all too well myself as well. So what – we now know a little bit about the worst bit. Could you tell me, though, how you manage on a day-to-day basis? And would you be happy to kind of walk me through the symptoms that affect your day-to-day life and your ability to have a normal life?
Alicia: Yeah. So my normal life now just consists of living it at a much slower pace, because of the continuous fear of having the attacks, but also getting through the attacks themselves. I also suffer from chronic pain and I would say I have 30% good days and 70% bad days. Even on the good days, there’s that little dull pain that’s always there, regardless of how many painkill- – pain medications I take. It’s so annoying, like really annoying. But I’ve found the best way to deal with the pain and attempt to continue my life to the best of my ability, and have a normal-ish life, is by surrounding myself with my close friends and family.
Sue: Well, you just touched on something that is also so vitally important to me too. Could you tell us a little bit more about your support network and what they mean to you?
Alicia: Yeah, definitely. My support network consists of my partner, my mum, my close friends and my close family. And honestly, I wouldn’t know where I’d be without these people in my life now – sticking by me when I was stubborn. There were times when I thought ‘I can’t do it anymore. It’s just too painful. What kind of life is this?’ But I kept going, and it’s because of my family and my friends supporting me, saying, “You can do this,” and pushing me through. And thanks to their support, I try to have a ‘can do’ attitude. I can work, I can travel, and I can get through this.
Sue: Yeah. You really do have a positive ‘can do’ attitude, Alicia. You should be very proud of how you manage your AIP, and I know your family and friends clearly are too.
Alicia: Thank you.
Sue: We know each other now from my role at the BPA, but you mentioned the word ‘support’ just now and I’m wondering whether you might talk about whether you’ve come to know any other people living with porphyria – obviously, other than myself.
Alicia: Yeah. So I’ve met some really close friends living with AIP – not just AIP, but all the porphyrias. And it’s because I got involved with the British Porphyria Association, fundraising and helping spread awareness of the disease. It’s quite nice to meet up with other people from around the UK living with all types of porphyrias, to hear their stories and how they deal with their situation, because every person’s situation is different. So it’s just nice to get some advice and some tips on how we can manage, but it’s also nice, because they understand what we’re going through.
Sue: Yeah, yeah, it’s really lovely to hear that you’re part of that community of others with porphyria, sharing your experiences. It really does help you feel less isolated and alone. And I know that I can speak on behalf of the BPA to say that we’re very grateful for your involvement and contribution too.
Alicia: Thank you.
Sue: So this leads me now to think a little bit more about the future and do you – could you maybe tell me a little bit about what your outlook on AIP is now?
Alicia: I don’t know what’s going to happen in my future, if I’m honest, but I do know I will keep fighting for the porphyria community. If I could share my story, spread awareness, take part in studies and stop my sister – who’s now been diagnosed with acute intermittent porphyria as well, and any future children I ever have – ever experiencing the same pain and troubles I went through, then I’ll do whatever it takes. I am really determined – sometimes stubborn – and I’ll do whatever I can to help others. People also say I’m strong, but that’s where they’re wrong. No, I’m not strong. I’m actually continuously scared and frightened. It’s because of my partner, my siblings, my family and my friends, my Greek family, my co-workers and because of the British Porphyria Association, I am as strong as I am. And I do truly believe I’m only as strong as my support.
Sue: You’re very strong and inspiring and I know that your support network sounds wonderful too. Thinking about this support – which we all know is so important – I was just wondering whether there’s anything that you’d like to say to other AIP sufferers, or maybe someone who’s just been diagnosed with AIP, or one of the other acute hepatic porphyrias.
Alicia: Yeah, 100%. I just want to say, for those who don’t have support, I’m here to say you’re not alone. There are porphyria associations, there are people out there who are willing to help. You just need to take that first step to find it, to reach out. And just like my family said to me, you will get through this.
Sue: Thank you Alicia, thank you so much for being so open and honest. I really think that’s a perfect, positive note to bring this podcast to a natural close. Thank you for answering all my questions honestly. Your story really is heart-breaking to hear, but I’m always inspired by your lovely, positive attitude, despite everything that you’ve faced and continue to face as well. So thank you again.
Alicia: And thank you for having me.
Sue: That’s OK. So finally, to everyone who’s been listening, if you’ve enjoyed this podcast, don’t forget to look out for the next one in the series. Thank you for listening and farewell from the two of us. Goodbye from me.