Patient Perspectives: Interview with Alicia Burns

In this feature interview, we speak with Alicia Burns about living with Brugada syndrome. After her diagnosis, she began sharing her story in a blog and later on Twitter (@BrugadaGirl). Her cardiac symptoms went misdiagnosed for years, until her dad’s sudden death alarmed Alicia enough to finally get an answer. She was diagnosed with spontaneous Type 1 Brugada Syndrome on February 15, 2013, and received her ICD on March 6th, 2013.

Start from the beginning — tell us about being misdiagnosed and then finally being diagnosed. 

I had felt healthy for most of my life. When I was 23 years old, I had my first abnormal EKG, which showed an ST elevation and RBBB. I was taking a diet pill at the time and had an increased heart rate, over 120 resting, and severe chest pains. I called an ambulance. The ER doctor noted the abnormality on my EKG and claimed I had a heart attack. I followed up with a cardiologist who seemed unconcerned, telling me that the abnormal EKG was probably due to whatever herb was in the diet pill. The palpitations and fluttering continued, and I ignored it. As I got older, my symptoms increased, such as worsening of palpitations and dizziness (especially at night while trying to fall asleep). I then went from one cardiologist to the next, and each would say, “drink more water” or “it’s stress,” and would dismiss me. This went on for a couple of years. Then my father died unexpectedly from cardiac arrest — we didn’t know at the time that it was from Brugada syndrome. After his death, I went back to the cardiologist and said, “look, I’ve been having these symptoms for years. Everyone is telling me that I’m okay, but there is some sort of abnormality there, and now my father has died suddenly at age 55.” I was again told that everything looked alright. This time I was even told to increase my potassium, drink more orange juice, and eat more spinach. I might add at this point, that after seeing 6 cardiologists with an abnormal EKG ever present, and my father’s early cardiac death, I was still dismissed! At the end of 2012, I made another appointment but had to see a different doctor since mine was not available. I did not want to see this doctor because she was new, but she was the only one available for an appointment at the time. She looked at my EKG and was immediately alarmed, which surprised me because 6 previous cardiologists had seen my EKG and thought nothing of it. She said, “I can’t believe it’s been like this for a couple of years and nobody has said anything to you.” I asked, “why, what’s the problem?” She asked me if I felt okay because it appeared I was having a heart attack right before her eyes. I laughed because I’ve heard this before and no one else seemed bothered by it. She didn’t want to go into detail because she wasn’t positive, but she said, “I think you might have a hereditary defect that you need a procedure for,” which I found out later was a defibrillator implant. She recommended that I see her colleague, an electrophysiologist, who has been my doctor since then. The moment my EP saw my EKG, he said it looked like Brugada syndrome. He ordered genetic testing to confirm his diagnosis, and that is when I was finally diagnosed. It was shortly after that when I started writing the blog. 

What a stroke of fate to meet with that cardiologist.

Absolutely! I had met with so many different doctors before, and although they all said there were some abnormalities, it took an EP and a doctor fresh out of medical school to see those markers for Brugada. I feel that the new cardiologist and my EP were responsible for saving my life. 

Tell us about your other family members who have since been diagnosed. 

Once my EP diagnosed me as Type 1, he recommended genetic testing, which came back positive for the SCN5A mutation. My 6 children were then tested, and 3 of them tested positive for the gene. They do not yet display any abnormalities on their EKGs — apparently symptoms don’t develop until later in life — so they will be monitored yearly until they are older for any changes such as a change in their EKG, syncope or palpitations, etc. My sister (my only sibling) also tested positive, but she doesn’t have any abnormalities in her EKG; her children were tested and were all negative. My mother also had a negative genetic test, which confirmed that the Brugada gene came from my father’s side and that Brugada syndrome was most likely his cause of death. My paternal grandmother is deceased now, but she had also experienced fainting spells and cardiac collapses throughout her 50s and we never knew why. My diagnosis and genetic testing finally led us to what was going on with the whole family. This shows that Brugada can be fatal for some, and not others, even within the same family as my grandmother lived to 87 and my father only to 55.

Was it a relief in some way to finally have an answer about what had been happening?

It’s bittersweet, especially with my children. For me, I was kind of relieved at first to know that someone finally knew what was wrong, but once I started researching Brugada syndrome, I thought to myself, I don’t want to have this! When your doctor tells you he needs to save your life, and for years you were told you were fine, it’s a tremendous shock. There is no treatment except for a defibrillator, so essentially you’re just waiting for something bad to happen — including getting shocked — and it’s a frightening way to live. Knowing my children have Brugada syndrome is probably more devastating for me, because they don’t have any protection as of yet, and there are daily fears. For example, every time my children go to sleep, are they going to wake up? Every time they have a fever, are they going to have to be admitted for an arrhythmia? If my father knew about his diagnosis, he might have a defibrillator and be alive today. Knowledge is power for me, but at the same time it’s difficult coping with that knowledge, because of the fear of death, shocks and depending on my ICD to save me and my children’s lack of protection at this time. 

That is something you’ve addressed quite a bit on your blog. Would you say the physical or mental (e.g., anxiety, depression, fear) symptoms are more difficult to manage?

Personally, the mental symptoms are more difficult to manage. It is still the biggest hurdle for me, even though it’s been 3 years since my diagnosis. It’s something you never quite totally digest and get over. I have patients from all over the world contact me through my blog and social media, and 8 times out of 10 they’re telling me the same things: I’m afraid, I can’t accept this diagnosis, and is this normal to be so scared? Some people are more afraid of the ICD shock — even though they know it’s lifesaving, it’s not going to be pleasant. Either way, whether afraid of the actual diagnosis or the ICD, the mental anguish is always there. Although you can have an arrhythmia any time of day, Brugada is known as a sleeping death because it’s usually brought on or triggered during sleep, so when you go to bed, you’re afraid. It’s really hard to try to go to sleep or watch your children go to sleep when you know that. My father was supposedly taking a nap and see how that tuned out? When you’re out and about during the day, that knowledge stays with you — what if it happens now? What if I faint now while driving? If I’m not feeling good, then that anxiety brings about palpitations, and you wonder if you’re having an incident and whether you should call the doctor, or if your symptoms are just anxiety. I wrote a post called “Brugada Makes You Mental” to help get this message out to doctors, because I want them to be aware what happens when they diagnose people with Brugada. I think patients need to be warned in advance that it is normal for them to go home and cry and be angry and sad and confused and frightened, and their family is going to feel the same way, and that’s okay! I don’t think patients or their doctors realize that. They may just assume “well, there is nothing else you can do about it, you have your defibrillator, go on living.” It is not that simple. The mental aspect is a big problem that many don’t want to discuss and it should be discussed!

Tell us about the relationship you have with your electrophysiologist, Dr. Ihab Girgis. Does he help manage these aspects of Brugada?

He does, because I have a good relationship with him. Once he diagnosed me, it opened up such a wealth of respect for him because I knew someone was finally listening to me and paying attention. For so long I had been saying to doctors, “I don’t feel good, don’t send me home and tell me I’m okay!” Even though my EP ultimately had to give me the news about Brugada — I was hysterical and crying at the time — I could tell he felt bad and he had taken the time with me then, and even now, to calm me down and keep me confident. He has told me multiple times he feels it’s important I keep living the same life as before. I see him 4 times a year and he is still a little careful about how he words things because he doesn’t want me to have added anxiety. He knows it’s not easy for me. I am on an anxiety medication from my primary doctor, and although my defibrillator provides a safety net, it doesn’t take away that underlying fear. My EP spends extra time with me at appointments because he also knows that I have 3 kids that need to be monitored. So the anxiety is not just about myself but my family as well. My interrogations are always revealing some sort of arrhythmia although so far, not fatal. It still makes me anxious. He is very patient and listens, so I think he understands my anxiety level. I’m lucky though — I’m not sure a lot of doctors seem to pay attention to that. 

In what ways has the Brugada diagnosis also affected your children’s lives? What steps are taken to manage their care? 

My 1-year-old, 7-year-old, and 20-year-old have the gene. I tailor each discussion differently for each child. With my oldest I explained to her that she needs to go by the same rules as me, including staying hydrated, being very cautious of heat (whether it’s fever or exercise or even tanning, an elevated body temperature is dangerous with Brugada), and being mindful of the list of medications to avoid with Brugada. I can be very honest with her because of her age. Sometimes I’ll even go with her to appointments because she sees the same EP as me. As long as she is symptomless and her EKG remains normal, she doesn’t need a defibrillator. I don’t explain as much to my 7-year-old, because I don’t want to burden her with that information. I simply tell her, “you have a special heart like mommy, and if you ever feel anything funny, like if you’re dizzy or if you don’t feel good, you come and tell me or daddy.” She wears a medical bracelet for Brugada syndrome. Her school is aware and she has yearly cardiology visits. We’re very cautious with our 1-year-old in regards to staying hydrated, keeping fevers down, and avoiding anything on the drug interactions list, yearly visits, just the same as my 7-year-old — that’s pretty much all we can do. 

I was also surprised to read in your blog that you hadn’t experienced any issues related to Brugada until your labor and delivery with your last (sixth) child. 

I didn’t know I had Brugada syndrome until my last pregnancy. I made a plan and was very careful about my medical treatment during pregnancy, and was pretty much okay the whole time. The whole thing was supposed to have been set up perfectly — that’s what was so disappointing. No one ever heard of Brugada. I was supposed to see a high-risk doctor who was going to collaborate with my OB doctor, and we were going to have a consultation with my anesthesiologist to see if he was comfortable giving me any kind of anesthesia. I put a lot of faith in the team I was working with to have this all laid out. I should have known from what I’ve experienced in the past that somebody wasn’t going to know what I had or what I was talking about. I’ve run into more medical staff that doesn’t know what Brugada is, than staff who do know. I should have kept that in mind with my OB team. When I told them I didn’t know about an epidural being safe because I didn’t have my consult, the medical team said to me, “we’ll talk to the anesthesiologist out in the hallway.” They literally came back within a minute and said he’d give me the epidural. I wish I would have learned from the past and said “wait — let me talk to him further,” but instead I agreed. Unfortunately the epidural had bupivacaine in it, which I was not supposed to be given, and within a couple of minutes, I went into ventricular tachycardia! They called a code, and it was an awful experience. My heart rate soared and my blood pressure dropped and I began to black out. However, it proved to me that I have to continue to be an educated patient and educate others about Brugada as well. Everyone, and I mean everyone, needs to be educated about this because next time it can cost a life.

How often would you say you experience symptoms? 

I have palpitations on a daily basis. I take a beta blocker because I have a lot of different arrhythmias (e.g., sinus tachycardia, VT while I’m exercising, SVT, bouts of atrial fibrillation, and bradycardia), but a constant annoyance is PVCs and PACs, which I get a lot. I wear a 10-day ECAT and 30-day ECAT monitor frequently and I’m actually due to have a second 30-day monitor soon to try and pinpoint exactly what’s going on, especially concerning atrial fibrillation.

Tell us also about the night-time phantoms mentioned in your blog. Have you learned anything more about these in the time since you first wrote about them? 

Not really — just that a lot of people have them. I don’t know what it is — it seems like there is some sort of shift in my heart rhythm when drifting off to sleep, and everyone says the same thing as me. I’ve read a change in vagal tone while transitioning into sleep is what triggers arrhythmia in Brugada. It’s not when I’m sleeping or when I’m laying in bed, it’s when I’m drifting off to sleep that I get this feeling that I’m suffocating and having palpitations – my body is not happy in that in-between stage. It is believed my father Robert was probably taking a nap at the time of his death — he was known for napping in the afternoon after work as he started his days at 1 AM. My stepmother thought he was sleeping in his patio chair outside. She called his name over and over from a window. When she got closer she realized he was gone. Anyhow, I’ve mentioned these night symptoms to my EP, out of fear of being like my father, and he put me on a monitor to see what was going on, but didn’t find anything. It’s not something that is registering electronically, but I do feel it and it does disrupt my sleep. And I have had many, many people tell me the same thing. The beta blocker has calmed it down quite a bit as well as helped some of the anxiety of trying to fall asleep. 

What do you think are the most common questions asked by patients with Brugada?

There are a lot of people who contact me because they are not offered an ICD due to lower risk, negative genetic testing, no early family cardiac deaths, etc. and are uncomfortable with what their doctor has told them. That seems to be a very common question — I tell them to discuss it with their doctor but also to get a second/third/fourth opinion! I saw 6 doctors before the seventh doctor diagnosed me, so as long as they’re not comfortable with what their doctor is telling them and they don’t like what they’re feeling, they should keep seeking new opinions. You can absolutely live a long life with Brugada, but you may also not, and that makes people very nervous, especially when they are sent home without a treatment plan. A second question asked frequently is what to do about their mental state. Brugada presents a very big unknown problem — anxiety — and a lot of people don’t want to talk about it. I don’t know if people are afraid of bringing it up with their doctor, but I think many patients struggle with the anxiety of living with this syndrome and as well as having other loved ones diagnosed with it. Sometimes it isn’t patients who contact me but someone whose loved one was diagnosed and both are having a hard time coping. I try to reassure them to take it one day at a time, because otherwise the fear can swallow you whole. Some patients will get an ICD and continue living, while others are frozen with fear despite having an ICD. I personally live both ways, as my emotions change daily as I try to come to terms with having Brugada and an ICD, my children having it, and my father’s death.

Why was it important to start your blog and share your story online?

I never thought that anyone would start reading it! Brugada is so rare. It was just something I wanted to put out there, because I found it therapeutic to write about what I was going through. When I go back to my old posts, I see there were a lot of typos and that I’m sometimes rambling, but I was just trying to get the words out of my mind and onto the screen in the hopes that it would help me, like a diary. When I was diagnosed, there was not a lot of information online about Brugada apart from medical literature. I did find a small support group on Facebook, but for the most part, there wasn’t much out there. So I thought if I told people what I went through from the beginning, it might help someone else. I always think back to my father when considering others. He had some chest pains later on in life that he ignored and thought was indigestion. There is a part of me that wonders what might have happened if he had pressed on and tried to get diagnosed like me. If I had never been diagnosed and given an ICD, I don’t know what my fate would be as I walk around with Type 1, which is more likely to cause cardiac arrest, according to my EP. So I wanted people to know that if this is what they’re feeling physically, and they’ve learned about early cardiac deaths in the family, or have fainting spells, do whatever it is they have to do to keep living, literally. In my own family, my father and I are perfect examples of what happens when you are not paying attention to your body. Brugada is symptomless, but for those who have a gut feeling like I did, they should press on with doctors’ appointments.

You mentioned in a post that people from 100 countries are now reading your blog. What has that experience been like? 

It is so unexpected! To think that anyone wants to see the inner workings of my mind about this is amazing. The people I have “met” usually don’t like to post comments on my blog — they are very private. So sharing my email address seems to be the preferred way of communication. Some people email me once with a couple of questions and then I don’t hear from them again. Others ask a lot of questions and dialogue continues. I haven’t maintained any connections with people, although there are some that I have tried to help out a little more. This diagnosis is harder on some people than others. The SADS Foundation contacted me about forming a local support group here in New Jersey, and I tried to find fellow patients to join, but it seems people don’t want to talk about Brugada. Also, since Brugada syndrome is pretty rare, I couldn’t find enough people. I don’t understand why people would want to keep this fear and anxiety inside — I think they’re afraid of bringing that psychological component to the forefront and prefer more of a one-on-one connection. I am happy to help with that even if it is only through email.

I like what you wrote in one of your recent blog posts: “What can we do now that we have a second lease on life? We tend to talk about what we can’t do with Brugada. But those of us who were lucky enough to be diagnosed, for lack of a better term, get to live. Life has been renewed.” Those are very telling words. What do you want other patients with Brugada to know?

Let me clarify that referring to a second lease on life frightens some people, which wasn’t my intent. Some don’t want to face the chance of a fatality. It’s easy for me to talk about the “dark and dismal” because it stole my father from me, which in turn makes me more at risk. So for me personally, I have a second lease. Maybe some who have Brugada and will never have a bad day, ever! Either way, it is important for patients to go on living — that is why I made my tagline “Live your life like there is no tomorrow.” There are people like my father who are not going to have that opportunity because he was undiagnosed. I live for him now. You’re supposed to be out there living! There will be days when you are too afraid to go out — for example, something as simple as driving your car can be very anxiety producing. You have to push yourself, because what then is the point of a defibrillator or even a diagnosis? There is a Brugada philosophy I speak of: Know you have it and be afraid to live, not know you have it and maybe not live at all. Some days I wonder what is best. It is the opening of Pandora’s box. Forfeit peace for knowledge. For example, I’m an avid horseback rider, and there are plenty of times when I wonder what might happen if I were to experience an arrhythmia, faint, or just not feel good while out on the trail with a horse or having lessons. It makes me wonder whether I should continue riding, but I know my father would want me to. He wouldn’t want me to hide away and give up what I love. I’m also setting an example to my children who have it. Live your life! You just have to keep going and try to push this diagnosis as far back in your mind as you can. 

Do you have any favorite resources online?

The 3 Brugada brothers have been amazing — I’ve never seen doctors that care so much for patients. Dr. Charles Antzelevitch and Dr. Sami Viskin have also been helpful. I’ve talked to all of them through email and they are wonderful with answering questions, and I admit I harass them all with questions! I do look for information online, but as a patient it is easy to get bogged down with medical terminology and journals. It’s hard to find information regarding Brugada for us patients and our families. That is one of the reasons I blog about it. I do share all the articles and websites I find to help educate myself and other patients. It’s important to stay educated about Brugada as we hope for a treatment other than a defibrillator and maybe even a possible cure. 

Is there anything else you’d like to add?

Thank you for letting me share my story! I really just want to get my story out there for people who are having a hard time dealing with Brugada, patients and families alike! It is not about fame for me because for the most part I am anonymous and most people only know me as “Brugada Girl.” I’m here to help someone, not become well known. I also aim to make sure the medical community is aware of BrS, because it is a crucial diagnosis that should not be missed. Brugada syndrome makes a distinct EKG pattern and it is important for medical staff to memorize it and know its markers. Also, it is extremely important patients and the medical field are aware of the medications that Brugada patients cannot take, which can be viewed here.