Diagnosed with what? Brugada Syndrome?!

11 Aug

by Carolyn Thomas  @HeartSisters

Alicia Burns“A lot of people ask me how I knew something wasn’t quite right with my heart. It’s hard to answer, because I’ve suffered with palpitations and chest pain for years, but they didn’t concern any of the cardiologists I saw.”

In fact, Alicia Burns’ doctors didn’t get concerned for 14 years, despite many consultations and tests for her distressing and ongoing symptoms.

Alicia, now a 34-year old mother of five children, tells the harrowing story of the moment she first heard the words Brugada syndrome

Last December, she’d been to see a cardiologist called a cardiac  electrophysiologist (EP) – an expert in heart rhythm disorders – who mentioned for the first time the deadly heart condition called Brugada syndrome: “It’s very rare, and there is no cure”.

Her EP ordered a raft of tests, including genetic testing. A month later,  Alicia had to go back to get the results of all the testing:

“The doctor stated my name and date of birth to confirm that the genetic testing results were mine, and I confirmed it.

“He said: ‘Then these are your results.’

“Fine, I figured, just tell me already.

“It says a mutation has been detected.”

“Okay, well what does THAT mean?”

“It means you are positive for Brugada.”

“My breath left my body, my heart raced, the tears came gushing down, and my body started shaking. Almost incoherent, I said:  ‘I HAVE IT??!!’ He just nodded. The nurse jumped up and ran out claiming I needed tissues, but I could see she felt very bad for me because she is my age and has four kids, and it could easily be her getting such news.

“The sky crashed in on me, the room got small, I just sat there crying like I was in a dream. That must be it! It’s a dream! That’s all this was, a nightmare. It will go away. Someone please wake me up.

“I walked outside to my car, feeling defeated, old, broken, defective. Life will never be the same. There was yesterday, and now there is today.”

Before she left the office that day, Alicia and her doctor discussed the next step now that a Brugada diagnosis had been confirmed: surgically implanting a medical device called an implantable cardioverter-defibrillator (ICD).

Alicia had her ICD surgery on March 6th, 2013 – 19 days after her diagnosis. Here’s how she describes that waiting period:

“It was 19 days of mental torment, torture, disbelief, crying, denial, anger.

“I froze. My life froze. I didn’t want to eat, cook, clean, go out, go to the gym, do the things I usually do. I suffered and read and cried all day and night. I woke up scared to death and went to bed even more afraid, wondering if I would wake up.”

According to Mayo Clinic, Brugada (pronounced brew-GAH-dah) syndrome is a potentially life-threatening heart rhythm disorder. It was only in 1992 that two European cardiologists, Pedro and Josep Brugada, recognized this abnormal heart rhythm as a distinct clinical entity that can result in sudden cardiac deathDr. Ramon Brugada is also a cardiologist like his brothers who shares their interest and expertise in this disease; in fact, it was Dr. Ramon who confirmed Alicia’s Brugada diagnosis when he was sent a scan of her distinctive EKG.

The EKG has a unique pattern called the Brugada sign. It may seem as if the patient is having a heart attack because there is an elevation of the heart’s ST waves, and many times a Right Bundle Branch Block (RBBB) a delay or obstruction along the pathway that electrical impulses travel to make the heart beat.

Here’s an example of the telltale EKG signs of Type 1, Type 2 and Type 3 Brugada syndrome. Alicia’s is Type 1, considered the most serious form of the disease; this test result along with her family history and genetic test results confirmed her diagnosis. (In May, new guidelines were presented to cardiologists attending the Heart Rhythm Society meetings in Denver, Colorado that redefined diagnosis of Brugada syndrome based on EKG alone).

EKG Brugada

Yet even though Alicia had what looks like the trifecta of positive criteria to confirm Brugada, she spent 14 years having her cardiac symptoms ignored or misdiagnosed by cardiologists:

“These cardiologists had also seen these abnormalities on my EKG, but since all other cardiac tests (holter monitor, echocardiogram, e-cat, blood tests) were  normal, they wrote it off as a benign RBBB. 

“Then I finally saw the electrophysiologist who is better trained to read an EKG, and he picked up on it and ordered the genetic test.”

But not every case of Brugada is picked up through genetic testing. It’s estimated that only about 30% come back with a positive test which, as Alicia explains, can certainly complicate accurate diagnosing:

“This is a congenital heart defect, but not physical. My heart is structurally normal. It’s a genetic heart defect that causes problems in the sodium and calcium channels that control heart rhythm. So I was born like this, but it manifested in my 20s and only gets worse with age –  and science has not given a reason for that yet.”

The Brugada arrhythmia causes the bottom chambers of the heart (the ventricles) to beat so fast that they can prevent the blood from circulating efficiently in the body. When this situation occurs (called ventricular fibrillation), the individual will faint and may die in a few minutes if the heart is not reset.

But if the patient has an ICD implanted, the device monitors the heart for any sign of the irregular heartbeat of VFib and can deliver a shock to the heart to prevent sudden cardiac arrest.

Not every Brugada patient is an appropriate candidate for an ICD. The decision to implant this device depends on a number of factors (for example, the severity of the EKG, genetic testing results, and whether they have personally had sudden cardiac arrest or had early cardiac death in the family). A 2010 Harvard study, for example, suggested that patients with Brugada syndrome without any prior cardiac arrest seem to be at low risk for long-term occurrence of deadly ventricular arrhythmias.  And ICD placement also carries with it the risk of device-related complications and inappropriate shocks. 

Many people who have Brugada syndrome don’t have any symptoms, so are utterly unaware of their condition. Others, however – just as  Alicia did – do report signs and symptoms that could mean Brugada, including:

  • fainting
  • irregular heartbeats or palpitations
  • stopped heartbeat (sudden cardiac arrest)

Brugada syndrome signs and symptoms are similar to some other heart rhythm problems, so it’s essential that you see your doctor to find out if Brugada or another heart rhythm problem is causing these symptoms if you experience them.

Brugada is a rare heart disease (affecting just 5 in 10,000 people) that usually affects people like Alicia in their 30’s, although it is much more common in men than in women.

And as Alicia was to learn, it’s almost always an inherited condition.

Four years before her own diagnosis, on a sunny day in May, Alicia’s 55-year old father Robert returned home from work and mowed the lawn. Later, his wife described looking out the window at him “napping peacefully under the tree in the lovely back yard after a hard day’s work”. But when he didn’t respond after she called his name, she went outside to wake him up. Robert was dead. Sudden cardiac arrest was the official cause of death. It’s now believed that it was Brugada syndrome that caused his heart to stop.

Her Dad’s sudden death alarmed Alicia enough to go back to cardiologists four years ago to get her ongoing cardiac symptoms checked out – again. She was told:

“Nothing is wrong! Your EKG is a little abnormal. Increase your potassium by eating bananas and leafy greens, stay hydrated, avoid stress, and get a good sleep.”

Alicia knows that her Dad’s mother had several fainting episodes before her death. She now believes her grandmother likely had Brugada tooand had passed it on to her Dad. The Brugada gene rarely skips a  generation.

In most cases, an affected person has one parent with the condition. But other cases may result from new mutations in the gene, occurring in people with no history of the disorder in their family.

And this family connection goes both ways. Since her diagnosis, two of Alicia’s five children – her 4-year old and 17-year old daughters – have also been diagnosed with Brugada syndrome. Her mother – the only other person who could have passed on the inherited Brugada gene to her – was also tested, but does not have the disease.

Although we know that not everybody who has Brugada will develop dangerous arrhythmias, Alicia’s immediate maternal reaction to this news about her own children was understandable:

“I had researched and researched this and knew how likely it is for Brugada to be passed down to my children. It has a hereditary rate of 50% which is very high. I told everyone: ‘I bet two or three of them have it’ – and damn it, I was right.

“I felt depressed and in a state of shock, anger and disbelief. I don’t want to hear that I’m lucky all five of my children don’t have Brugada. It would have been catastrophic if they all had it, but it hurts just as bad to know that ANY of them have it.”

Alicia explains that most children diagnosed with Brugada syndrome  have no symptoms. Brugada instead “sneaks up on you later in life”. 

“Is it good news they don’t need an ICD implanted right away? Sure it is! Does it mean they will never need one? Not at all. This is a waiting game. Wait for them to get older, monitor them over the years, and wait for the symptoms to show up and they will be in the same spot as me.

“For now, we see the doctor every six months and get EKGs and holter monitors, and EKGs while they have a fever to see if they can uncover a bad EKG.

“We follow the rules: watch the heat, look out for fevers, keep hydrated, mind your electrolytes, take an external defibrillator wherever we go, stay active and heart healthy. That’s about it. Of course, if symptoms show their ugly face sooner, intervention is needed.”

Meanwhile, Alicia has launched a blog called Brugada Girl. Like most people (even heart patients who blog about women’s heart disease!), I knew virtually nothing about Brugada syndrome until I happened upon Alicia’s story there.

For now, she is considered asymptomatic (meaning she hasn’t fainted, has not experienced cardiac arrest, has never gone into ventricular fibrillation (V Fib) or extreme tachycardia). But she does experience frequent palpitations, flutters, breathlessness and pre-ventricular contractions (PVCs) – essentially an extra heart beat here and there.

Night is when all of her symptoms come out, and can cause insomnia. As Alicia says: “It’s during times of rest and sleep that Brugada steals you.”

Risk factors for Brugada syndrome include:

  • Family history of Brugada syndrome: If other family members have had Brugada syndrome, you’re at an increased risk of having the condition.
  • Being male: Adult men are more frequently diagnosed than are women. In young children and adolescents, however, boys and girls are diagnosed at about the same rate.
  • Race: Brugada syndrome occurs more frequently in Asians than in other races.
  • Fever: While having a fever doesn’t bring on Brugada syndrome itself, fever can increase the risk of fainting or other complications of Brugada, especially in children.

Alicia Burns is my very favourite kind of heart patient. Unlike so many other women I’ve met who are living with heart disease, she has become a world expert on her diagnosis. In fact, she quite likely knows far more about Brugada syndrome than most physicians do because of her lived experience, her relentless researching, and how rarely the average doctor would even see a patient with Brugada during an entire medical career.  

As another of my blog readers wrote of her own medical team:

“It’s their business, but it’s my life!”

When I congratulated her on this encyclopedic knowledge of Brugada syndrome,  Alicia replied:

“My mother is an RN and I think she fed me that need to research everything to death in order to be informed. I need to know what happened to my father, what’s happening to me, and be completely knowledgeable for my children.

“Sticking my head in the sand and staying ignorant as some people do is not an answer. Brugada is like wildfire on a family tree, and many others will pop up having received the gene from my father’s side so at least one person in our family should know what they are talking about!

“Some people just don’t get it, or maybe they don’t WANT to get it because ignorance is bliss.”

Alicia’s compelling story reinforces how much she has had to learn in a very short time. It’s been barely six months since she was diagnosed with Brugada syndrome, and only five months since an ICD was implanted in her chest. During that short time, she’s joined a very exclusive club that nobody ever wants to join, and worse, she now knows that two of her children are club members, too.

Her emotional response to this journey is unique to her, yet also familiar to everyone who’s heard a shocking diagnosis delivered from the lips of any physician. Many health care professionals are simply unconscious of the profoundly traumatic impact that this delivery can have on a person. As Alicia describes the days between her own diagnosis and ICD surgery:

“I lost 19 days of my life not wanting to face the truth when I should have just held my chin up and done what I needed to do.

“But in hindsight, my reaction was normal. Totally normal.

“You can’t go from healthy to staring down the barrel of a gun and NOT feel something. My best advice is let your emotions run amok, let them out, feel every emotion you need to feel, purge it all out – and eventually you get to a point of peace and determination.

“I’m well on my way…”

And here’s what cardiologists want patients to know about adjusting to an ICD (via WomenHeart: The National Coalition For Women With Heart Disease)

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Learn more about the rare diagnosis of Brugada Syndrome.

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Q: Have you or someone you know been diagnosed with Brugada syndrome?

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See also:

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51 Responses to “Diagnosed with what? Brugada Syndrome?!”

  1. Diana June 22, 2017 at 4:53 pm #

    Gerroly: My girls were around that age when they were diagnosed. Now they are 17 and 14. I’m here if you want to chat.
    ~ Diana
    Diana (dot) visser (at) yahoo (dot) com

    Like

  2. Gerroly Feliciano June 21, 2017 at 11:48 am #

    My son recently just got diagnosed with Brugada Syndrome, and now I have to take my other children and myself to get tested. My concern is he’s six years old and he’s very very hyper and all over the place as children are. I would like to know what are the do’s and don’ts about this disease – what can he do and what can’t he do?

    And every time I’ve done some research, all I keep finding is he requires surgery. Can he be a normal boy, run and jump, then do what he normally does until surgery? Does he have to sit and relax until then?

    Liked by 1 person

    • Carolyn Thomas June 22, 2017 at 2:45 pm #

      This is a very scary time for you and your family, Gerroly. I’m not a physician but my understanding is that most children diagnosed with BrS have few if any symptoms, so keeping a little 6-year old from running and jumping and playing like all 6-year old boys like to do would be tough to manage.

      Please visit Brugada Girl’s website (Alicia is a mom with BrS who also knows what it’s like to have her child diagnosed with it). Meanwhile, your physician (ideally, a heart rhythm specialist called an electrophysiologist) will be answering ALL of the important questions you have. Best of luck to you and your family.

      Like

  3. Ronda DW Hicks June 6, 2017 at 8:02 pm #

    On 4/19/17 I had a sudden cardiac arrest and SURVIVED!!!!!! After being in ICU, medical coma, I was diagnosed with Brugada Syndrome….. I’ve done the research, what little there is.. public needs to be educated. SCA is not a heart attack, it’s worse,.

    Liked by 1 person

    • Carolyn Thomas June 6, 2017 at 9:24 pm #

      Hello Rhonda – sudden cardiac arrest is NOT a heart attack, and can often lead to sudden cardiac death. It’s a very serious and dangerous condition. Congrats on surviving and especially on getting an accurate diagnostic reason for your SCA. You’re in very early days still, terribly scary and overwhelming. Check out Alicia’s blog Brugada Girl which I think you’ll find very helpful. Good luck to you….

      Like

  4. Lisa Smith March 25, 2017 at 12:23 am #

    Thank you Carolyn for your reply, it helps to know that there are more people like me out there.

    Like

  5. Lisa Smith March 24, 2017 at 3:58 pm #

    Hi my name is Lisa and last week i had a ajmaline test done for Brugada syndrome and it came back positive and I am type 1. Can anyone please tell me if that test can be wrong? I am booked in for a s-icd and I am so scared. I am 28 and have 5 kids. I just don’t know what to do.

    Like

    • Carolyn Thomas March 24, 2017 at 4:46 pm #

      Hello Lisa – It’s very common to hope that diagnostic tests might be wrong when facing scary test results, especially when you’re a young mom. I’m not a physician, but I can tell you that the ajmaline test is widely considered a reliable test for Brugada Syndrome. Find out as much as you can about this diagnosis while you await your ICD procedure. Start by visiting Alicia Burn’s website called Brugada Girl – Alicia too was a young mother of five like you when she was first diagnosed. Best of luck to you…

      Like

  6. Shishira Halady February 10, 2017 at 9:26 pm #

    Hi,

    A very nice blog. I am a 30 year old male diagnosed with Brugada after challenging it with the drugs. I don’t want to believe it. I have a 2 and half year old son.

    I want to prove what I heard is wrong. Is there a chance that it can be a wrong diagnosis?

    Should I get further tests done before going for an ICD?

    I am waiting for your answer please help me.

    Thanks
    Shishira

    Like

    • Carolyn Thomas February 11, 2017 at 6:29 am #

      This is a frightening diagnosis, Shishira. No wonder you don’t want to believe it. You might find this information from Mayo Clinic helpful. Best of luck to you…

      Like

  7. Jodie November 11, 2016 at 1:49 pm #

    My 17 year old son was feeling unwell when he woke up last Friday morning. I woke him as usual at 7am, he asked if I could give him a minute as he wasn’t feeling very good. He stayed in bed for another 5 minutes, then went for a shower. The other boys were also getting ready brushing their teeth in the bathroom. They came into the lounge laughing and fake burping. I asked what they were doing and they said oh Indy just keeps burping. I went in and yep, constant burping!! I thought it was a bit strange, it went on for about half an hour. Being his last day of year 12 he was desperate to get to school, he got dressed and we headed off to school at 8 am. First drop off was his 11 year old brother who attends a school fairly close to home (about a 5 min drive). During that drive, I thought my 17 yr old didn’t look very well; he said he was fine, it was just a bit hard to breathe and his chest was tight. I suggested we swing by the GP and get them to check his asthma, as I thought that’s what was most likely causing his symptoms. He did not want to go and said he was fine. He was very insistent on getting to school! I almost gave in and took him, but something inside me just said no, he has to go see the doctor now.

    After some discussion – including he wasn’t getting out of the car if I went to the GP – he got out and they found him to be febrile and his pulse to be irregular. They did an ECG and called an ambulance immediately. He was very light sensitive and had a headache too. He lay in the dark with the nurse and I hovering until the ambulance arrived.

    On the trip to the Emergency department, he seemed to pick up and was chatting to the ambulance paramedics. He said he was feeling much better, by this stage it was roughly 9 am. The ambulance man showed me the ECG printout he did, and said “See how the second squiggly line down doesn’t really look like the top one?” to which I replied “Doesn’t really look like the top one? I’d say that it looks nothing like the top one at all!” He said “Yeah, that’s what they are concerned about.”

    We arrived in Emergency, he had another ECG and saw the ED doctor who said he thought it was type 1 Brugada Syndrome. But said he wasn’t going to make that call, so sent his file on to the cardiologist. About an hour later the cardiologist came down to the emergency ward, he asked a lot of questions about family history of sudden death and syncope. I said I wasn’t aware of anyone dying suddenly, but my son’s father had a history of syncope dating back to when he was a child. He had a lot of testing done back then (in the 80’s) but no cause was ever found.

    The cardiologist ordered another ECG, this time with the leads concentrated in the centre of my son’s chest; the nurse was quite excited to do this as she’d never heard of doing it like this before. He said it would help confirm the diagnosis. He read the printout, and said “Yep that confirms it”. We hung around for a bit longer talking to him, then he said we would need a clinic appointment in the next few weeks, and just wait and a letter would be sent out with an appointment time. So off we went home.

    My son wasn’t well again that night. His fever came back and he was very lethargic. I gave him panadol and monitored him through the night, his temp came down and he just slept.

    The next day my husband’s Aunty called who works in a neonatal cardiac intensive ward as a highly trained nurse. She delivered the bad news that her cousin died in 1964, very suddenly at age 16, and no cause ever found. She simply had a fever and was brought by her parents to my husband’s Aunty’s house as her father was a doctor. He examined her and found nothing to be to be seriously wrong with her. She was taken to the infectious disease hospital as it was suspected she had an infection of some kind. She died within 24 hours of falling ill. It was later found that there was no infection. She just died.

    I called my GP first thing Monday morning to ask him to send a new referral to the hospital containing this vital new piece of information, he did right away and made it for urgent review! Within the hour the hospital called to say the cardiologist had seen the referral and requested Indy be seen as a catogory 1. He had an ECG on Thursday and is seeing the electrocardiologist on Tuesday.
    Needless to say, I as a mother have had next to no sleep for the past week, and I doubt I will until at least Tuesday.

    His father is away working on a remote island, where there is only a GP present one day a fortnight. I have urged him to go and have an ECG done asap!!

    Like

    • Carolyn Thomas November 11, 2016 at 2:51 pm #

      Hello Jodie – no wonder you are not getting any sleep! I’d be worried sick if this were happening to my child, too. There is often a genetic link to BrS, so getting your ex and all of his blood relatives tested is important. Tuesday can’t come soon enough – don’t hesitate to take him immediately back to Emergency if symptoms continue or worsen. Best of luck to you and Indy…

      Liked by 1 person

    • Diana November 11, 2016 at 4:51 pm #

      Hello Jodie. My two girls have Brugada syndrome. They are 16 and 13. My 16 year old had an ICD implanted 15 months ago after going into VTach from having a fever. Life sure has changed. She has been shocked from it and now has PTSD. If you would like to chat, please email me diana (dot) visser (at) @yahoo.com

      Liked by 1 person

    • Alicia November 13, 2016 at 4:37 am #

      Hi Jodie. I’m “Brugada Girl”! Carolyn wrote up such a wonderful article didn’t she? Please feel free to email if you would like to talk…brugadagirl (at) yahoo (dot) com or look over my blog at http://www.brugadagirl.com

      Liked by 1 person

  8. storiesofourboys May 23, 2016 at 10:46 pm #

    Excellent article. I don’t have Brugada, but I have idiopathic v-tach. Mine also always comes when I’m resting or sleeping, so I can totally relate. Thankfully, I haven’t needed an ICD, but I do have a monitor implanted that will let the docs know more about my v tach.

    Liked by 1 person

    • Carolyn Thomas May 24, 2016 at 6:59 am #

      Glad you found this article. Symptoms during rest/sleep are particularly distressing compared to cardiac symptoms that come on with exertion and go away with rest – because we can’t just *stop* doing something to see if symptoms go away. Best of luck to you…

      Like

  9. Colette April 27, 2016 at 2:20 pm #

    Hi, My name is Colette & I am 49. My world fell apart Wednesday last week when I got told I had Brugada type 2. As I had never heard of it before I thought it was just an infection…. I could not have been more wrong. After the poor man explained it to me the only thing I really absorbed was “no cure”.

    I have always loved life. Met with a good few challenges along my pathway & always stayed positive but “this” I am really struggling with. I am so scared but don’t want to let the people I love see it as I have ALWAYS been strong. I have 2 beautiful children & a very special hubby whose worlds I do not want to tear apart.

    I live in southern Ireland & don’t know anyone else who has even HEARD of Brugada Syndrome… I am still in the early days of finding out about it & still in shock so anything you can tell me would be really appreciated. My cardiologist is a fantastic man and more or less told me to stay away from the Internet as a lot of that content is too much too soon…

    Thank you for putting your own story up; I know it can’t have been easy for you. I guess I need to believe in light rather than darkness for now

    Thanks again & god bless,
    Colette

    Liked by 1 person

    • Carolyn Thomas April 27, 2016 at 4:48 pm #

      Hello Colette – what a week you have had! You are in very early days, so no wonder you are in shock. This is a truly overwhelming diagnosis, particularly when it’s out of the blue and a condition you’ve never even heard of. But you are NOT alone.

      I’m so glad you have a good cardiologist; his advice about staying away from the internet is partly true (after all, you found this article by Googling, no doubt, but every patient is indeed unique and some people are ready earlier than others to try to make sense of a scary diagnosis by trying to learn more).

      Always be careful to seek reputable online resources (Mayo Clinic is a good place to start). I definitely recommend that you check out Alicia Burns’ blog Brugada Girl for accurate information (and video about her personal experience).

      Best of luck to you…

      Like

    • Alicia Burns April 27, 2016 at 4:53 pm #

      Hi Colette! Feel free to email me to talk – BrugadaGirl (at) yahoo (dot) com

      I know all about the ups and downs of this. Take a deep breath!

      Liked by 1 person

  10. Lewis Blake March 28, 2016 at 11:42 pm #

    Hi, I’m 25 and recently diagnosed with Brugada Syndrome. It hasn’t really effected me in any way but I’m sure it just hasn’t hit me yet. I was told I’m low risk and have nothing to worry about, but how about I tell that to the consultant when he has been diagnosed with a possibly fatal heart disease! They didn’t give me much info ie how to stay low risk? What to stay away from? How much exercise can I do? Etc.

    I’ve been doing some research but to be honest it’s all in medical jargon so hard to make sense of it! I’ve recently had a beautiful baby girl, she is 8 months who has had a ECG in which the guy said he is pretty sure she hasn’t got it… But her heart is still developing, how can he say that?

    Any advice or help would be great.

    Liked by 1 person

    • Carolyn Thomas March 29, 2016 at 7:18 am #

      Hello Lewis and welcome to the very exclusive club that NOBODY ever wants to join, especially at your young age. This is a very shocking diagnosis and a lot to get your brain around, especially at the beginning. I’d recommend that you email Alicia with your specific questions at: BrugadaGirl (at) yahoo (dot) com She’s done lots of research on her diagnosis, and has learned that some of her children also have it. Best of luck to you…

      Like

  11. Ryan November 28, 2014 at 12:49 am #

    Hi Alicia, I am a 33 year old male who woke up this Thanksgiving morning with chest pains I had never felt before. After spending 4 hours in the hospital, I found out it was just a severe case of acid reflux; however, when the doctors did an EKG on me, they found irregularities with my heart.

    The doctor told me I have Brugada Syndrome, and reiterated essentially everything you previously stated. I have had fainting spells throughout my life, ever since grade school, and doctors were never able to make the connection…until now. The side effects Monica spoke of I can relate to and many of the fears and concerns you expressed have been racing through my head all day.

    Being a husband and a father is the most important thing to me and I want to be around for as long as I can. I will be setting up my surgery for ICD after this holiday weekend, but until then, am scared to do anything. Still, I find it comforting to be able to find your words here and I know this is Heart Sisters, but I appreciate both your words.

    Best of luck to both of you!!!

    Liked by 1 person

    • Carolyn Thomas November 28, 2014 at 5:07 am #

      What a way to celebrate Thanksgiving, Ryan! You’re on a new path now – on your way to becoming a ‘world expert’ in Brugada. Good luck to you with your upcoming surgery.

      Like

      • Alicia Burns December 17, 2014 at 8:21 am #

        Carolyn I got your email about becoming a grandma but I couldn’t find it to reply- lol! Congratulations. My oldest daughter who is 19 is having a baby as well 🙂 Merry Christmas!

        Liked by 1 person

        • Carolyn Thomas December 17, 2014 at 8:28 am #

          Thanks Alicia! Wow, two babies in your family almost the same age! Happy Christmas to you and your growing family, too.

          Like

          • Alicia Burns December 17, 2014 at 8:36 am #

            She’s 6 months already and she found out she’s having a boy. Her little brother and son will be best of friends. She actually got married to her high school sweetheart over the summer. He’s in the military and deploying next year! Always excitement around here 🙂

            Liked by 1 person

  12. Monica November 14, 2013 at 8:56 am #

    Hi, my name is monica, I too have brugada syndrome, they discovered it in 2005 when I had my first cardiac arrest. I had seizures when I was really young, and now we know why, because of brugada. I do know what you mean, I too have a really hard time with irregular Heart rhythms, it makes me really tired, hard to breathe, and nausea. Sometimes it takes me a couple of days to snap out of it. The faith in god and my family is what keeps me going.

    Like

    • Carolyn Thomas November 14, 2013 at 12:31 pm #

      Thanks for sharing your Brugada experience here, Monica. Good luck to you.

      Like

    • Lisa Simmons June 28, 2015 at 7:56 pm #

      Hi Monica, My son just died of Brugada, he was only 26 and also had a history of seizures. I will keep you in my prayers.

      Like

      • Carolyn Thomas June 29, 2015 at 7:41 am #

        Lisa, my condolences to you and your family on the tragic loss of your son at such a young age.

        Like

      • AliciaB June 29, 2015 at 7:58 am #

        Lisa, my heart breaks for you. I have Brugada Syndrome, 3 of my children have the gene and my father passed suddenly at 55. If you ever need to talk, please email me at brugadagirl (at) yahoo.com

        If you want to vent, talk, anything…let me know

        Liked by 1 person

      • Juli July 12, 2015 at 6:03 pm #

        So sorry to read about the loss of your son at such a young age. Myself and my 14 year old daughter are genetically positive but my 9 year old daughter is not, however she has a history of chest pain and seizures that they can’t figure out. They are wondering if she may also have Brugada and mentioned a possible link to seizures. I will keep your son and family in my thoughts!

        Like

        • Diana November 13, 2015 at 5:29 am #

          Please if anyone wants to talk I would love to make some new friends who know what I am going through. My daughters ages 15 and 12 have Brugada. My 15 year old went into VTach and had a ICD put in. It has gone off since and is causing a lot of anxiety. My email is Diana (dot) visser (at) yahoo.com
          Hope to hear from you!

          Like

          • Carolyn Thomas November 13, 2015 at 8:48 am #

            Diana, visit Alicia’s blog Brugada Girl for lots more on living with Brugada, or the WomenHeart online support community (about 20,000 patients with all types of heart disease including a separate section just for cardiac arrhythmias – it’s free to join and you can immediately ask any questions or just browse topics. Good luck to you and your daughters…

            Like

  13. Texas Heart August 18, 2013 at 7:24 pm #

    PVC are very common and usually benign and having a sensation of fluttering in the chest is often simple anxiety not a heart problem so she is just one of those rare people who had both a benign over reaction to normal sensations in her chest combined with a rare family history.

    It is great she finally got a correct diagnosis but this story doesn’t in any way support the notion that other women with fluttering sensations or palpitations or pvc’s have a rare heart disease (9,995 out of 10,000 don’t). Heart Disease is called the silent killer for a reason and very very rarely diagnosed by feeling anything fluttering in your chest. Get your BP checked first and stop drinking coffee before you think you have a rare disease

    Like

    • Carolyn Thomas August 18, 2013 at 7:55 pm #

      Hello Texas Heart – You’re right of course that simple palpitations or flutter shouldn’t be interpreted to mean a rare heart disease like Brugada (as I made clear in this post). But I’d hardly describe what Alicia experienced as “a benign over-reaction to normal sensations” given that she had repeatedly consulted cardiologists over a 14 year period who had essentially misread Brugada sign in her EKGs.

      Like

    • Alicia Burns August 19, 2013 at 4:38 am #

      Texas Heart, I wasn’t aware the article was called “PVCs and Brugada”

      How do you come to the conclusion that Carolyn was writing about PVCs and heart defects or even heart disease for that matter? She said I was symptomless most of my life except PVCs here and there. Apparently you didn’t read the whole thing.

      There is nothing benign, or over reacting or anxiety like about Brugada. I was taken by ambulance with chest pain at 23 and told I had a heart attack! I stood at the coffin of a dead father who died suddenly at 55.

      So please, don’t you dare come on here, and run away with yourself over this article claiming I over react! This article has nothing to do with PVC.

      Like

  14. Rachel Goodwin Juby August 11, 2013 at 5:25 am #

    Amazing life story, thank you for sharing.

    You brought up an interesting point, genetics. I am a Baby Boomer and my Mom was adopted at 6 weeks old, records sealed. A war baby, I assume. My Father was a Texan and back then they did not go to the Doctor for anything, not even birth or death. So, with the exception of what has surfaced in their life time (which was a lot), I don’t have a lot to go on. I only have two living relatives left (except for my two children of course).

    So, I guess my question is, How do we get Doctors to dig deeper, do genetic testing and find out why these things are happening to us? In some cases the “heads up” would give us years to prepare for something that comes in fast and furious later in life.

    Unless you are very rich or a celebrity, I have never heard of anyone being offered genetic testing, and I have excellent insurance. They will gladly use my excellent insurance to order a mountain of standard test and a zillion dollars later tell me exactly what was said above. Does not look good at all. Eat dark leafy greens. Sleep More. Exercise. Take a vitamin D and while you are doing all that, might not be a bad idea to get your things in order 😦

    I do not think this will help me, as I am past that point. BUT, if testing could make a difference in my children’s life, then that would be a major accomplishment.

    Like

    • Carolyn Thomas August 11, 2013 at 6:32 am #

      Good point, Rachel. Often it’s only after a serious diagnosis when, like in Alicia’s family, we can look back and say: ‘Oh, this must have been what Dad and Grandma had, too!’ – but that’s only if you know who Grandma was.

      Like

    • Alicia Burns August 11, 2013 at 6:43 am #

      Most of the time with Brugada, genetic testing is offered and covered by insurance when they clearly see you have an abnormal EKG and at that point they run a whole panel for several different cardiac arrhythmias. Even if you don’t know who your family is, your EKG says a thousand words and warrants testing that is generally covered.

      Like

      • Carolyn Thomas August 11, 2013 at 6:47 am #

        That’s assuming that an “abnormal EKG” is accurately recognized – you yourself spent years having your own abnormal EKGs dismissed by doctors before that EP finally ordered genetic testing last year!

        Like

        • Alicia Burns August 11, 2013 at 6:52 am #

          True! true! The only way around that is keep seeing new doctors. It’s a pain and took me years, but it saved my life and my children’s.

          Like

  15. Brugada Girl August 11, 2013 at 4:59 am #

    Reblogged this on Brugada Girl and commented:

    Carolyn Thomas, the founder and creator of Heart Sisters a website/blog that’s reached almost a million views about heart issues in women, has collaborated with me to bring awareness to Brugada. She has done her own research, talked with me via email and taken parts of my blog to give a thorough explanation of the severity of the diagnosis as well as the emotional toll it takes. It’s a clear cut explanation and my “real life” story. Please share with friends and family members who don’t quite understand what Brugada is. It may save a life or provide better understanding. I’m honored she reached out to me wanting to help spread awareness, and wrote such a wonderful piece about Brugada Syndrome. What a wonderful woman!

    Like

  16. Alicia Burns August 11, 2013 at 4:52 am #

    I’m speechless Carolyn! This is an amazing article you’ve written.

    You’ve talked with me via email, used parts of my blog and did your own research to come up with a thorough explanation of Brugada and show the severity of it.

    You managed to teach everyone something, bring awareness, yet keep it raw and emotional and personal and show the world this is a real thing that ruins lives.

    I’m forever grateful. I’m so touched, I can’t even say. God bless! I will share this every way I can. Just amazing…

    Liked by 1 person

    • Carolyn Thomas August 11, 2013 at 6:21 am #

      Thank YOU Alicia for what you’ve done in such a short time to inform us about a condition that affects so many young families. What I was most struck by about the way you tell your own story is that “raw and emotional” reality behind the diagnosis that so many doctors just don’t get. Maybe it’s your wonderful Italian/New Jersey influence? 😉 Wish there were more heart patients as motivated and self-educated as you clearly are. Best of luck to you and your family.

      Like

      • Alicia Burns August 11, 2013 at 6:49 am #

        This is exactly what people tell me they love most about my blog. I don’t beat around the bush, I’m not afraid to let anyone into my head and let them know I get a little psycho, or sad, or angry. If I tell others I’ve endured it, then they won’t be afraid to let it out. I can’t tell you how many people said that it was like I was in their head and they never let it out. They felt my writing was like writing for them, and some even broke down and cried.

        Jersey folk tell it like it is. We are brutally honest.

        Liked by 1 person

      • Mirjami August 11, 2013 at 8:30 am #

        You should read this story: do Google A Zest for Life and Gritt Liebing. There is an unbelievable story of a woman with Brugada syndrome. 2010 was published a book called: Ich übe das Sterben— I exercise dying from her. By chance, I noticed this book in a bookshop. Having read it, I was wordless. Her last marathon was 2012.

        Like

    • Jeremy Clark August 20, 2013 at 4:36 pm #

      That was an excellent article. As a new paramedic, it would be easy to diagnose the EKG as an acute MI. As a 32 year old father of 4, I can definitely relate. I myself began having some palpitations a month ago and went to my FD and had a fellow Medic run an EKG and 12-lead. Turned out to be a sinus arrhythmia, no PVC’s though, which is good (hopefully no ventricular involvement).

      My partner, who’s been a medic/FF for 20+ years was also unaware of this ‘disease’. Holter monitor came back normal. Just holding off on the energy stuff, which can be tough working overnights 48+ hours per week plus classes towards nursing.

      Hopefully everything goes well for you and your children and they are fortunate enough to not require an ICD in their lives :).

      Like

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  1. Your Online Bridge - February 4, 2016

    […] My Heart Sisters, a blog on Brugada – Great blog going through all the technical aspects of Brugada syndrome. Heart Sisters would be a great place to connect to others suffering from heart disease. […]

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