Can you tell me a little bit about your SADS journey?

I was diagnosed with Long QT when I was eight years old, and was able to get genetic testing as an adult to identify that I have multiple LQTS Type 2 mutations. As a child in the ‘90s, the doctors knew very little about the different types so I was told that if I got scared, ran, played contact sports, or went on a roller coaster, I might die. While it was pretty scary, I didn’t have to run the mile in school and always got to be the one who did the scaring on Halloween, so child me counted that as a serious win.

In my thirties, I had a breakthrough cardiac event after I was startled awake and jumped out of bed. I woke up on the floor, having fallen flat on my face. After talking with my cardiologist, we decided to have a defibrillator placed. It was a blessing because I ended up having five events in thirteen months; three of those times I went straight into ventricular fibrillation and my device saved my life. My triggers have been loud noises, fever, sleeping, and stress (very easy things to avoid, to be sure). After my last event, I became unable to work and now I’m on disability (or as I like to say, I’ve retired in my thirties). Since starting Mexiletine my events have been controlled and this winter solstice marks the three year anniversary since my last event.

What have been some of the biggest challenges you’ve faced with your diagnosis?

One of the hardest things for me about my SADS condition is that it’s an invisible disability. I had a major surgery not too long ago and the doctor said that I’d recover fine because I was “young and healthy.” Internally I cringed because I might be young, but I am not healthy. People, even doctors, don’t always know how to deal with a young person whose heart could capriciously stop; sometimes they’re uncomfortable or afraid to treat me because they aren’t familiar with LQTS. I’ve learned to be my own advocate because I have had more than one provider try to prescribe drugs that could have interactions—on one notable occasion, a PA prescribed two… in the same visit (shocking, yes, but thankfully not literally shocking).

Navigating personal interactions can also be hard. When my events started in earnest, I lost some friends who couldn’t live with someone who was constantly on the verge of death in their life.

What advice would you give to others with a similar diagnosis?

My meditation group gave me great advice when I was struggling with anxiety; if you are breathing and your heart is beating, it’s a good moment—so enjoy it because you don’t know how many more you’re going to have. On a practical level I’d say if your doctor has recommended getting an ICD, get the ICD. It does in fact hurt like getting kicked in the chest by a horse, but the alternative is not being here to someday get kicked in the chest by a horse and be able to compare (also have an electrifying sense of humor).

If you’re a parent and your child has been diagnosed with a SADS condition, I am sure you’re distraught. But as a person who has spent my whole life with this disorder, I’ve never felt that my life has been diminished. I learned to make lifestyle choices and I didn’t wait to do things I wanted to do—not because I was scared, but because I understood that life is precious and I’m lucky to be here.

And most importantly always remember that there are others, like me, out there who know exactly what you are going through. You are not alone. You are a warrior. And you will survive.

Can you tell me a little bit about the SCA?

John:

Felicia was asleep on the third floor. Miraculously, she was able to wake up and call out to our daughter that she didn’t feel good, and our daughter saw Felicia slump over.  I was on the second floor, and our daughter, Coco, screamed down to tell me that Felicia was on the floor, unconscious. She had an incident two weeks before the SCA, and Coco said it was happening again. I ran upstairs and she was on the floor, unconscious and gurgling, and I started CPR, chest compressions, and mouth-to-mouth. She wasn’t coming to, so I screamed for her dad to come up, and we were both doing CPR while Coco called 911 and talked to the paramedics. They came and took her in an ambulance. She came to at the hospital.

How has the SCA affected your life?

Felicia:

It’s definitely made me so grateful for every second of life, and I started to look at life differently afterwards. It was scary, but I had to overcome that and keep going. I’m so grateful to God, Coco, John, my parents, the EMS workers, and the doctors who put in my ICD. My ICD saved me again two times a few summers ago, and I feel like I’m in really good hands. ICDs and medicine can do so much for people living with heart conditions. You can live a full, happy life after a cardiac event.

I think it’s so important for schools and businesses to learn CPR and have AEDs and trainings. John learned CPR at work, and had just had a refresher a month before my SCA. The EMS workers said he did a great job. Doing something – compressions, early defibrillation, and calling 911 – can really help your chances of survival. Even though it seems scary, it’s worth it to take CPR classes and get an AED.

John:

Immediately after the event, Felicia was in the hospital. For the first 24 hours I was there with her, her memory was not good – she’d ask questions and I’d answer, and then she’d ask again right away. I thought I had performed CPR wrong and was really upset – I thought she might have brain damage. Thank God her memory came back – it was a miracle.

You could save a life by learning CPR –  an SCA could happen at any time.

Can you tell me a little bit about your SCA?

It was Sunday morning when it happened, and I was in church. Prior to that, we had no awareness that there was something wrong with my heart. I had quit basketball a few months before, because I kept almost passing out during sprints – I’d be running the last piece and everything would go black and I’d have to catch my breath. I thought I was just out of shape.

This was three months later, and at the time, as a teenager, I wasn’t really into church. I was messing around, nudging my mom with my elbow, so when I slumped into her and had an SCA, she thought I was still just messing around. One moment I was there – the next I wasn’t. She saw I had gone grey and wasn’t “there” anymore. She screamed for help and they laid me out on a pew. The pastor did a blessing, and right before they performed CPR, they found a pulse. That’s the first recollection I have – I was off, kind of in space somewhere, and I heard the most faint voice, like if it was two football fields away or something … yelling “I have a pulse! I have a pulse!”

After that, I went to the hospital and spent two weeks going through different tests while they figured out what had happened.

How has your SCA affected your life?

After they diagnosed it, the doctor prescribed beta blockers – and no more sports and working out. Beta blockers didn’t work well for me – I was a young, high-energy athlete and they made me feel sluggish. A few months later, one of three specialists in the country at the time moved to where I lived, and I went to see him. He said I needed an ICD right away.

They were very conservative with my treatment at the time. The device helped a lot, because I didn’t have to worry about episodes so much.

What do you want others to know about SCA?

Because it’s so sudden and random, my one takeaway after getting the device is – better safe than sorry. The ICD gives you peace of mind. If you’re faced with a choice, do what you can to prevent yourself from experiencing SCA. It’s also great to see how many more places have AEDs now – back in the day we really had to advocate to get them in schools. It’s great to know that they’re more accessible to help save a life.

Jill Collinson

Can you tell me a little bit about your family’s SADS journey?

We had no family history – this came out of the blue. Jake started having events at 7. The first one he had was when he was dropped off at a skating rink for a birthday party, and we got a phone call that he’d had a head injury. They did scans and cleared him at the hospital. He then had two events shortly after – one riding his bike, and one running up the stairs after recess during Bible School. That’s when they did more extensive medical testing, and gave him a diagnosis of seizure disorder.

He had several events over the years – in the swimming pool, on the soccer field, while running laps in PE, while playing games at a church event – and I spent all those years studying seizures, going to symposiums, and educating myself. It bothered me that there were aspects that didn’t quite fit the definition of seizure disorder, like how long the episodes were, or that they always happened after physical activity. We talked with his neurologist, who said it was a coincidence – but I thought it was a pattern.

Our breakthrough happened when Jake was 20 years old, working at a theater, and had a “seizure” in the lobby. An off-duty police officer – Richard Salgado from the Hillsborough County Sheriff’s Office in Tampa – found him lying face down and began CPR. The fact that a stranger found him made all the difference – we would have thought it was a seizure, but the officer through it was his heart. He was taken to St. Joseph’s Hospital in Tampa and intubated, and we were told he’d been found in Sudden Cardiac Arrest.

They asked if we could implant an ICD in him, and as we read through the paperwork we saw he wouldn’t be able to have MRIs, and because we thought he had seizure disorder, we didn’t want that. The doctor on call said that if it happened again, and he didn’t have a device, he wouldn’t have a brain to worry about. We consented and the ICD was implanted.

He had an event soon after, and came to right away because the ICD fired. They did a download of the data and told us they suspected it was either LQTS or CPVT. Genetic testing eventually confirmed that it was CPVT. They put him on medications and checked the rest of the family. My husband and I don’t have it – he’s de novo.

His cardiologist, Dr. James Irwin of BayCare Medical Group, said it was his opinion that Jake never had a seizure – and we were shocked. We’d been in treatment for 14 years. I was upset – I asked how that could have happened. The cardiologist said he just wasn’t examined at the right moment. Now he leads a normal life and has learned to live with CPVT.

Jacob Collinson

Can you tell me a little bit about your family’s SADS journey?

I was diagnosed with epilepsy for a long time, which is clearly not what I had. Strobe lights didn’t affect me, and tests never really showed anything. It was a bit of a journey to diagnosis, and it took a while to find the right medications and everything. We originally thought it was LQTS and I was on different meds while we were waiting for our DNA results – it was rough. I would irritate paramedics when I was having events, because I wouldn’t want to go to the hospital – because my heartbeat would be stable and my arrhythmias would disappear.

Now I work in IT – general support, and I’m about to move into security. I don’t play sports like I’m used to. Some days aren’t as good as others, but overall, I’m doing fine.

Can you tell me a little bit about your SADS journey?

In the spring of 2000, I went into sudden cardiac arrest. After about four weeks of testing, they finally realized I had Long QT Syndrome. I went for six months without a device. My mom really advocated for me, and she thought that I should get an ICD. We talked to a specialist who had just started in town. I got my first implant right at the beginning of 2001. It was a pacemaker and defibrillator.

Before I knew about this heart condition, I was an athlete, and I loved to play sports, and I loved to work out. It was my space where I found my mental clarity. So when this happened, and I suddenly had to stop playing sports, and was advised by my doctor not to work out like I used to, it was really tough for me. I gave up sports, but working out wasn’t something I could see myself giving up.

I’ve had to learn to trust my device and that it works. And trust knowing myself, and where my boundaries are. For me, it’s been a practice in self-care – doing what I know what’s mentally right for me, which is moving my body, but also respecting my limits and my device. If that’s what makes you happy in life, you can find a way to keep it.

How have the recoveries been from your ICD surgeries?

My first surgery – because it’s a bigger surgery, since they put in the leads – was a bit more intense in terms of recovery. I remember I couldn’t move my arm for a while after. Once I got mobility back, I felt like it was just getting used to having that bump. Now I’m used to how it feels when I work out. Now, the recovery after each surgery has been pretty minimal because the pocket is already there. I feel like I get my mobility back within a week.

It is more difficult for me to build strength in my chest muscles, so I have to be careful about what kinds of exercises I do, especially a few months after a surgery, but other than that I forget that it’s there sometimes.  

How has your ICD impacted your life?

I would It’s impacted it in a positive way. I’m someone who loves to work out – that’s part of my lifestyle and career. The ICD has given me peace of mind. If I didn’t have it, I would be afraid to get my heart rate up and work out. That, for me, outweighs any sort of inconvenience – for me, those are nothing in comparison to being able to actually live my life.

And I was skeptical at first. I was going into college when I first got it. And I was supposed to be an athlete and had to stop playing, because we were so unsure about everything. I had a negative feeling about it at first, but had to learn to accept it. Now I’m thankful that it’s there.

What encouragement or advice would you give someone who’s receiving their first ICD?

See it as a positive – as a safety net or a new lease on life. Don’t worry about the things that could hold you back. In my experience, it’s never gotten in the way, never been something that I was afraid of. Having a good mental space around it, being positive, and seeing it as something that’s helping you rather than a foreign object is a better perspective. It’s your crazy little friend.

How has the SADS Foundation been helpful to you?

When I was 18 and was suddenly this distraught college student with a pacemaker, my mom was trying to find resources for us. Even though I didn’t know at the time, she knew that I would need a community – that it would be helpful. It’s been a good outlet to see other families advocate for themselves – she really had to advocate for me. And SADS was a huge encouragement to do that. It’s been a great community for my family in general.

Could you talk a little bit about your family’s SADS journey?

My story begins on June 11, 2001, when my mom had a Sudden Cardiac Arrest. And unfortunately, she passed away. When you’re six years old, and you lose a parent unexpectedly, there are so many unanswered questions– like, Why did she die? How did she die? It was scary to go to doctor’s appointments, and run on treadmills, and be hooked up to heart monitors. It’s very confusing when you’re that age, and all those tests just keep giving you no answers.

My sister and I were put on beta blockers, just as a precaution, and our doctors made sure that we weren’t doing anything that could put us in a jeopardizing position – which was tough, because we still didn’t know why we needed these medications when we had no answers and experienced no symptoms. I got a little older, and as a teenager, it’s hard to want to take medication for reasons you still don’t understand.

Fast forward to 2013 – I was 17 at the time. And from 2001 to 2013, we still had no clue what caused my mom’s death. My grandmother discovered the SADS Foundation and became connected in the community. Through SADS, she got in contact with Dr. Michael Ackerman from the Mayo Clinic, who took on my family’s genetic case and kept a very watchful eye. He became our protector, someone we could go to and ask questions. We felt safe knowing that we had someone we could reach out to.

In 2013, we had a reason to go visit him in person – because that’s when I had my cardiac arrest.

I was a senior in high school, and physically active. I was working out at the gym. On this particular Wednesday morning, I felt lethargic going into my weightlifting class, which was very unusual for me. I got to about my fourth or fifth repetition, and it was almost like someone had a little carafe with nine ounces of static that was shot into the vessels of my heart.

I collapsed and immediately went into cardiac arrest. I feel very grateful that the two instructors in that class reacted right away. They performed chest compressions for about 15 minutes until the paramedics arrived. After the paramedics got there, they rushed me to the hospital to intensive care. I was put on a ventilator, and it was not looking optimistic at all. This was the first time since 2001 that my family had a reason to panic again. They wanted to transfer me to a different hospital to start CT scans and see what sort of brain damage I had. When you experience out-of-hospital cardiac arrest, about 90% of people have some sort of serious brain damage. It was a miracle that the results we got back showed absolutely no signs of brain damage.

I remember waking up in the hospital, very unaware of where I was and why I was there. And I remember my dad sitting at the foot of the bed. He quietly told me what had happened, and the first thing I thought of was my mom and her younger brother (who had also passed away of cardiac arrest). This experience was a strange connection I had with them.

We were able to gather my mom’s DNA information from the coroner’s office. They tested my DNA, my sister’s DNA, and my grandmother’s DNA. We’d been through so many years of being told “no” for genetic heart conditions. It felt like we were at a dead end. Then, Dr. Ackerman tested for CPVT – and that was our smoking gun. My cardiac arrest ultimately became the answer for my family’s genetic journey.

Since then, I’ve had an ICD. It feels like my own little best friend – a security blanket watching over me.

What was the biggest obstacle to receiving proper treatment?

It can be really tough to feel like you’re at a significant roadblock. And to feel like you’re going to have to live with a question mark for the rest of your life. But it’s so important to channel your remaining hope, and use that hope to keep asking questions. Even when you feel like you’ve exhausted all the questions in your book, never stop asking questions.

What advice would you give to other families in a similar situation?

Don’t feel like you’re at the end of your story – you’re just at a certain chapter. There’s so much life left to live. Ask questions, use resources, go to SADS conferences and watch their videos, and stay connected with others who are in similar waters. Learn to lean on each other. Nobody is alone in this, even when you feel like you are. And don’t feel ashamed for asking questions – that’s been the biggest game-changer for my family.

How has the SADS Foundation helped your family on their journey?

It’s because of SADS and Dr. Ackerman that my family got answers. The cherry on top was being at a SADS conference in Ohio, where Dr. Ackerman was speaking, and he actually told my grandmother and I our genetic results, and it just felt surreal. I feel so grateful for everything that the SADS Foundation has done to get our questions answered. And to help my family be set up for success.

At the age of 15 years old, I was a three season athlete in high school: soccer, basketball, and track and field. They were a huge part of how I defined myself – I loved sports. I was in a track and field hurdle event, got dizzy at the finish line, and almost passed out. That was unusual for me – I’d never felt anything like that. I wasn’t a kid who was being reckless – using substances, anything like that – which, of course, are the first questions you get asked. After a few tests at my doctor’s office, they determined that I was hypoglycemic. They thought that was probably the reason for my dizziness. In the meantime, coincidentally, they heard a heart murmur they had never heard before – mitral valve prolapse, pretty common. So they decided to put me in for some follow up testing, just in case. I went to some local cardiologists, did my stress test, broke some records – because they were used to doing a lot of 70+ year olds, as opposed to a teenager. They felt like everything looked pretty good. But they felt more comfortable sending me to an electrophysiologist, just in case, and I ended up over at Beth Israel Deaconess, where my cardiologist I’ve now had for my whole life took one look at my tests and said, you know, you’re borderline for something called Long QT syndrome, and you’re sidelined until we know otherwise.

At the time, genetic testing was this two year wait, it was an expensive process. He was able to get me into a study which still took six months. When I got sidelined, I was in my starting my senior year, and my hope and goal was playing division one soccer. I had been in active talks with the college I wanted to attend. So that was devastating. I was the captain of all three sports had keep it on the hush for a while. Because we didn’t know what it was going to lead to – if it led to nothing, we didn’t want that information out there, ruining my chances of playing collegiate sports. About six months later, was actually on Good Friday, I’ll never forget, I got the call saying the genetic results came back. And I had Long QT syndrome, which was definitely really hard to hear at that time. Sports was a big part of how I defined myself – but with awesome family and friend support, I was able to finally start learning about Long QT syndrome.

My mom really wanted to educate herself. She found the SADS Foundation, which was really the only resource she could find at the time with regards to education about what Long QT was. This was back in the year 2000, and things have certainly come a long way since then. At the time, I was only able to connect with a woman who was about 10 years older than me, who lived in California, and had an ICD, and that was the best they could do – where now it’s incredible. You can talk to so many people.

I approached my electrophysiologist to see if having an ICD implanted would remove my restrictions from competitive play. He reviewed my history and saw I didn’t have any classic symptoms besides the dizzy spell; otherwise I was looking very healthy. So he was comfortable with implanting the ICD and removing restrictions with the understanding that if any other symptoms presented, then then I would be done. In the meantime, I’ve thrown myself into a lot of other things. I’m also an artist – I got very involved in art when I went off to college, I really threw myself into my grades and other activities, defining myself in different ways. Right before college, I had my first ICD implanted, which was an interesting experience. I was always the young one in the waiting room. It gave me the freedom I needed at the time.

While I was sidelined, I also decided that I would take on the pageant world, which is super funny to anyone who knew me at the time – I barely brushed my hair, I’d wear my sneakers and jeans over anything else. My guidance counselor suggested it to me. It was this healthy new form of competition. And walking in to that interview was incredible, because I got to tell the judges all about this condition I had, and how ultimately, I wanted to educate people more about it and about sudden cardiac arrest – that it happens in young people. And I remember walking out and saying, Wow, that felt really, really good.

I didn’t win my first pageant – I walked like a football player in my heels. It was a little bit of a disaster, but it was an awesome experience. And I ended up sticking to it. While I was able to return to sports, I opted not to play at the competitive level for D1, but I got pageant in my blood and started working towards that. It led to a lot more advocacy work, and connecting with SADS and other organizations. In 2006, I won the Miss Massachusetts pageant, and travelled all over the country and even internationally, speaking about heart disease in children, how real it is, and how much it affects us. I was able to do a lot of work both in Massachusetts and in Washington, DC to lobby for different bills. Probably the most amazing part of that experience was really connecting with young people who had heart conditions, and talking to kids. I went to camps. I did all kinds of fun events. I was 17 when I was diagnosed – but I couldn’t imagine being so much younger than that, and not having support systems in place. I’d show them my scar, and we’d compare our scars. The message was, Hey, heart condition or not, you can do whatever you want. I didn’t think I’d have a crown on my head one day, but here I am. Heart disease does not have to define you.

I competed at the Miss America Pageant. I did a lot of interviews at the time with Fox News and CNN, Inside Edition and USA Today. That Miss Massachusetts crown gave me the megaphone for heart disease awareness. After those adventures, I continued with the public speaking for a while, and ended up starting a family of my own. I have four kids. My two youngest are mine biologically. So I’ve been on top of genetic testing for them.

The interesting part about my story is that a few years ago, I actually had my defibrillator removed permanently, because I was told that my particular mutation – I have Long QT type two, the hERG mutation – is no longer deemed as life threatening. It was the most wild experience to hear that. He essentially told me that when my battery was up in the ICD, I’d have the option to keep it or have it removed. I didn’t want to have a foreign object in me. But it was a very strange experience to have my defibrillator taken out. At that point, I was on my third one, and when it was out, I literally felt a hole in my chest where it used to be. It was sort of losing a limb in a sense, it was a huge part of my identity.

Through the years, it’s been quite the journey. I certainly wouldn’t change any of any of my history, I think it made me into the person I was meant to be. And, again, the best part in all this has been able to hopefully inspire others and try to save lives.

What was the biggest way that your diagnosis changed your life?

Initially, being told I couldn’t be an athlete anymore was a huge blow. Because that was one of the most important ways I defined myself. I’m a mental health counselor, I work with teenagers – so I understand now even more why it was taking part of my identity away – it was traumatic.

But it also led to incredible stuff, it really did. I never would have walked on that stage, or spoken to those audiences, or been connected with so many people if it weren’t for my diagnosis. I defined myself in new ways, and I matured in ways a 17 year old shouldn’t probably have to. But I was able to really recognize what was important in life, reflect on that, and make it my mission.

How did you get started doing advocacy work, and what kind of work do you do?

When I first started, the American Heart Association actually found me because I was doing the pageants. I didn’t know what the next steps were – I knew it was important to talk about the condition I had, I knew that probably a lot of other young people had it based on the research I was doing. The American Heart Association really set me on that path to advocacy work. I was able to get out there and speak and tell my story, and I saw how powerful that could be. SADS was incredible, because I could connect with other young people and it was much more specific to my condition. Speaking at events for SADS and getting involved in different ways – it was huge.

Parent Heart Watch is an incredible group. It’s founded by parents who lost children to various conditions like Long QT syndrome, HCM, and other congenital heart defects. The work they do in the memory of their kids is second to none. I was invited to the first conference and I was so nervous to walk in because here I was, the surviving child, but I have never been so embraced in my life. They said, we do this work for more stories like yours, and they do great work with heart screenings across the country in memory of their kids. I can’t imagine going through what they’ve gone through, but it’s powerful, the stuff they’re doing.

As a result of that, most of them have nonprofits across the country. And I’ve visited a lot of their nonprofits and spoken at their events. And for a while, I was also involved in Heartbeat International. Here in the United States, there’s a shelf life for defibrillators and pacemakers, where after a certain amount of time, we can’t use the devices. It’s similar in other developed countries. This organization created the means to donate them to third world countries and find volunteer physicians so the people who need them, that normally would never get them, were able to have the surgery, were able to have the device, were able to have their lives saved.

Sometimes you say, it’s just my story, it’s just my life, but the power in others being able to hear your story and relate and connect to it is an unbelievable journey.

What encouragement or advice would you give to someone who’s just been diagnosed with a SADS condition?

Connect right away. Being diagnosed is a very lonely, difficult place to be. And again, my family was amazing with support, but nobody truly understood. When I discovered and met other survivors, that’s when I felt a real sense of connection, a better sense of healing. There’s some dark places that your mind can go sometimes and it’s important not to feel so alone with that, or guilty about it, or that you’re weird.

Educate yourself. The internet is a scary place now for faulty information. So go to reliable sources, talk to your doctors. It can be very scary initially. But ultimately, that’s what’s going to help you move your life forward.

At the end of the day, there’s so much you will always offer this world, no matter your diagnosis, no matter what. And if you have that comfort level, share your story, because it can change somebody else’s life.

How has the SADS Foundation been helpful to you?

I am forever grateful to this organization, because they really were a pioneer in making sure that information was out there about Long QT Syndrome. My mom is an educator, she searched far and wide, and SADS is where she found her most reliable information. And it helped us connect to other people. They were on the ball with offering everything that someone with Long QT needed. It’s only evolved from there, with the national conference. It’s absolutely incredible the work you guys are doing.

Growing up I suffered from frequent fainting spells and would talk about my heart “feeling funny” while playing competitive sports. I was a happy and healthy kid who didn’t complain much, so my mom immediately took me to a cardiologist when I first mentioned this. A few appointments and EKGs later, I was told I was just a “stressed out teenager and my heart was fine”. Naturally, I started thinking that it was all in my head. I believed the doctor and lived for years assuming they were correct.

Fast forward to December 2012 – a day still vivid in my memory. I was 17 years old and this was the last appointment before my implantable cardioverter-defibrillator (ICD) surgery. It was the day that I held a pacemaker in my hand and came to terms with the reality that had quickly unfolded with my new diagnosis of Long QT Type 2, a form of Sudden Arrhythmia Death Syndrome (SADS). If left untreated, this disease can be life threatening and lead to a sudden cardiac death. It turns out I wasn’t a stressed out teenager and the actual issue was this rare heart disease commonly triggered by exercise.

I owe my cousin Marisa Peterson a lifetime of thanks. Without her dramatic and sudden discovery of her own Long QT Type 2, I may have never been tested and would have most likely found out too late. Thanks to Marisa, my entire family was screened for this rare disease and eight of us were officially diagnosed and treated. Seven of us now have ICDs that can defibrillate or pace our hearts to prevent death. I encourage those who can spread awareness for SADS to do so and if you discover that you have an inherited disorder, please communicate this to all of your family members. You could end up saving their lives the same way my cousin Marisa saved our family.

Living with a rare and chronic disease comes with its own set of special challenges, but with the correct diagnosis, great doctors, a strong support system, education on my disease, a healthy mental outlook, and a strong body/mind connection, I have been able to dramatically increase the quality of my life. I am joining the SADS community to advocate for and help others to reach the same point that I have reached. My relationship with this chronic illness has been anything but linear, yet I still wouldn’t change it for the world. A Long QT diagnosis certainly does not have to be a death sentence. I have grown more from my experience with this heart disease than I could have ever imagined. Shockingly, this is my first time publicly sharing my story. I truly hope this makes someone who is living with a scary diagnosis to feel less alone. It took me years to get to the point I am at in my health journey and I would love to help anyone out there going through something similar. It always feels great  to have someone who understands what you are going through and we are lucky to have an established community like the SADS Foundation. Feel free to reach out to me at any time! 

Contact Info:

IG: @brookespange 

Email: bk.spangenberg@gmail.com

What SADS condition do you have, and when were you diagnosed?

I was diagnosed when I was 15 years old with LQTS Type 1.

When did you get your ICD?

In 2011 – so I was 30 years old when I got my ICD.

What factors went into the decision to get an ICD?

I had been having some fainting episodes, even while I was on high dose beta blockers, and we put in a loop recorder, and that loop recorder caught some Torsades. I got an ICD right after that, because I was maxed out on the amount of beta blockers that I could take.

How many ICDs have you had?

This is my fourth ICD, because I’ve had a lot of complications from it.

I had my first ICD for about four years, and then I bent over and I picked up a heavy bucket of rocks. And when I did that I pulled my leads out, so they were not positioned in the correct spot anymore. And that caused some pacemaker syndrome. So every time I would bend over again, those wires would get close to touching, and it would pace my heart inappropriately. It took a while to figure out what was going on, but then I had to have a lead extraction, and I had to have a new ICD put in. I then needed a pocket revision after that for some problems with positioning and then a couple years later, I had what’s called SVC Syndrome (Superior Vena Cava Syndrome). From where the leads were, it caused a lot of narrowing from scar tissue. And I ended up getting blood clots in my SVC, and I had to be in the ICU for a couple of days. After they got rid of the blood clots, I had to go in for another lead extraction so that they could put a stent in.

A couple years after that, I ended up having return of symptoms from the SVC syndrome. And they took a look and I had another narrowing up above the stent. So they were trying to decide what to do, because every time I would have the leads in my SVC, it would cause more of a narrowing. They decided that they would take everything out, take my ICD out, do another lead extraction. And then I ended up getting another stent and a pacemaker. And an S-ICD this time instead.

What’s your experience with an S-ICD?

I actually hate it, because it’s so big, and it caused a lot of pain on my side, and I couldn’t move my left arm for very well for almost a year. He actually had to go in and reposition that S-ICD.

Have you ever been shocked by your ICD?

Yes – inappropriately. It was from something that is very, very uncommon. My ECG just all of a sudden looked different. I had a change in the waveforms. I have a separate pacemaker, and they don’t talk to each other. So when I had that rhythm change, it fooled my ICD. I was walking on the treadmill, and I got shocked while I was awake.

It was very painful and knocked me down from the treadmill. I saw a flash of bright white light. It took me a few minutes to be able to get up.

What was your experience recovering from your ICD surgeries?

The first one I had was just placed under the skin and was not very painful to recover from. The second one, I had a subpectoral placement and that was harder. It was painful for a few weeks.

Very few people have the same system that I have – I’ve only found three people. So my recovery from my S-ICD surgery was probably a lot different than most people’s recovery would be.

What is your overall view of your ICD?

I know that I need my ICD because I’ve had documented Torsades, even being on beta blockers. So even though I don’t like some aspects of the ICD, like the pain that it’s caused, or the inappropriate shock, I’m still glad that I have it. It allows me to be with my family. And for us not to worry. It also allows me to take the medications I need to treat my Lupus and be safe.

How did you get involved with the SADS Foundation, and how has it been helpful?

Right after I got diagnosed, I was a teenager, and I had to quit everything, all my sports, because not as much was known about LQTS then. And that was such a hard time, I was so upset about it. I was kind of mad at the whole world for a little bit. But then I decided – I can either let this negatively influence my life and I can be mad, or I can teach other people about it so that they could not be so afraid. And so I did. I had one of the paramedics that actually took me to the hospital one of the times from passing out help me. And we put on a big informational session. After that I felt so much better, and the people I was around – my family, my friends – felt a lot better because they knew what they should do if something happened.

Right after that, I found SADS through Dr. Etheridge, because she was my doctor at that time. And I’ve been volunteering ever since then. I volunteered with my family, and now with my kids. SADS makes a huge difference in people’s lives.

I was diagnosed with Long QT syndrome in July 2001, I was 23 years old.  I decided to share my story in hopes that it may help someone in the future diagnosed with this same condition.  When I was first diagnosed there was a girl my age that was also a patient at the same clinic, so they set up a phone call for us.  This was a huge help for me, not knowing how to deal with what I was going through.  I also have offered this same help to another in a similar situation. 

I gave birth to my son June 30^th 2001.  I was 10 days overdue and needed to be induced. I was sent to the hospital for the induction June 29^th very early in the morning.  I was first induced with Dinoprostone in the morning and then the next day they broke my water around noon and then also gave me Pitocin.  I delivered at 3:09pm.  We were not released from the hospital until Monday July 2^nd because my son Braden was not eating.  I was not producing any milk and he would not take a bottle.  Finally, he took a bottle and took some formula so they could release us.

The night of July 3^rd I woke up in the middle of the night to feed Braden.  I moved from the bed to the recliner and my boyfriend James was going to pass Braden to me, I said wait I don’t feel good.  I then went into what looked like a seizure.  James called 911 and I woke up to the paramedics being there asking him a lot of questions.  I was taken to the hospital and went through a few tests and then released.  I was to come back the next day to see a neurologist.  We went back the next day and went through a few tests and was diagnosed with Epilepsy and was prescribed Dilantin.  The neurologist told James I was going to have seizures and not to call an ambulance.  I filled the prescription and went home and took the first dose.  That night, July 4^th I woke up in the middle of the night to use the washroom, I went into a seizure while in the washroom.  James must have heard me fall but I don’t quite remember because I was then in the hallway and he was there asking if he should call an ambulance.  I said yes.  I was again taken to the hospital and they decided since I had only taken one dose of medication that I need the full dosage in my system to help with the seizures.  The nurse asked me several questions that I could not answer, and it seemed she was a bit irritated with me.  I apologized that I did not know how much I weighed because I just delivered a baby a few days prior.  She asked me to jump on the scale and believe me I wasn’t doing any jumping I was still in a lot of pain from delivery.  They hooked up an IV and proceed to give the medication.  Once it started going into my veins it was burning and hurt a lot.  I notified the nurse that something didn’t feel right, her response was “It is just a small bag can’t you take it for another 15mins”.  Immediately after that I was told my heart stopped and I need to be resuscitated. The emergency doctor shocked me I think two different times and he said I also had a cheeky answer to his questions when I was again conscious.  He told me that he asked if I knew what day it was, my response was “well, ya. It’s Wednesday but actually it’s Thursday morning because I am supposed to be going to the stampede parade today!”  He was pretty sure I was ok. Ha!

I was admitted to the ICU after that, but I don’t remember much about that stay just what people told me.  When I woke up, I was crying and was obviously very scared and didn’t know what was going on.  I had a couple of visitors and I kept asking the same questions “did you say my parents were coming” and “did I tell you I had a baby”.   I went through a whole bunch of tests and once I was stable was transferred to the CCU.  Both my arms (mainly my biceps) hurt so bad where they had put IVs and medications in, I could barely move them they were rock hard.  They told me why that had happened, but I don’t remember.  I have moved again to another room which I believe was still the CCU and stayed there for several weeks.  I had several visitors there, friends, family, doctors, and they even let Braden stay with me.  They gave me a bassinette from the labor and delivery unit and let me store his bottles in the nurse’s fridge.  I went for a bunch more tests.  It was here the Dr. Wyes came in and talked to me.  He told me that they thought that I could possibly have Long QT syndrome. They gave me an article to read about pregnancy-induced Long QT and a bunch of other information.  I was going to be getting an implanted cardio defibrillator, ICD. 

I was transferred from the Peter Lougheed to the Foothills hospital for my surgery to implant the ICD. There was no one around that was my age that was going through the same thing all older people, mostly men.  I waited for surgery for a few days there, while starving each day waiting to see if they were getting me in.  I was very scared I had never had surgery before and now it was implanting this device inside my chest with leads going into my heart, what was this going to feel like.  I had a lot of instructions on what to do and what not to do. I thought, why is this information all is geared toward the elderly nothing about my situation but followed everything to the tee.  I woke up from the anesthesia and I was crying, I guess this is normal for me as I found out in numerous surgeries over the years.  I was very sick and in a lot of pain.  They discharged me the next day, gave me a prescription for multiple drugs and took my driver’s licence for a year.  So, I have a new baby that I’m afraid to hold for fear of having another seizure and dropping him, an ICD implanted in my chest, a bunch of drugs and no drivers license.  The new normal started, doctors’ visits for myself and for Braden.  Before long I settled into my new life and got used to everything, but I don’t think I processed everything emotionally that had just happened to me James and I just started raising our son. 

I realized after all this had happened that there were several incidents that happened in the past that could have been warning signs to a medical condition.  July 2^nd the evening I was released I remember waking up in the night because Braden was fussing a bit.  I brought him into bed with us and I was sitting up holding him, the next minute I was laying down and he was laying beside me.  I felt weird but I just thought I was tired, I realized later I must have had a seizure.  I remembered later having that same feeling when I was younger where I was sitting up in bed and the next thing I knew I was laying down again.  I was at a party and there was a paddling pool in the front yard, I remember stepping into it and the next thing I knew I was laying on the couch in the house.  I was at a bar and I was dancing on the dance floor and the next thing I knew I was laying on the floor and the paramedics were there to take me to the hospital.  I was released with no explanation.  I was at my boyfriend’s house and we had decided to smoke a joint, the next thing I knew I was on the floor and the paramedics were there to take me to the hospital.  I was released with no explanation.  I had seen my family doctor and was told not to smoke pot.  I am very lucky to be alive.

During the next two years I was humming along working and living life.  I got engaged moved houses started planning a wedding and then moved again and broke off my engagement.  Purchased my first home and moved in.  After life settled down a bit all that I had been through it just hit me and everything came crashing down.

The first treatment I received from my device was in 2003.  I was mowing my lawn and the device started shocking me.  It shocked me numerous times in a matter of minutes, I was conscious the entire time and it was incredibly painful.  My neighbors were outside, and they called 911.  Once I was at the hospital my device was interrogated and they found out that some settings were not quite right.  All the settings were updated appropriately, and I was sent on my way.

The second treatment I received from my device was in the same year but this time I was at work.  It was 5pm and I ran up the stairs to complete one more task before I went home for the day.  As I was walking to the department, I knew something wasn’t right, I feel like I could hear it charging and Bam I was shocked.  I tried to make it to my co-worker Chad’s desk (his father has an implanted device so he kind of knew what I was going through).  He wasn’t there but my other co-worker Graeme was I asked him to call 911 and I was shocked again and down I went.  While he was on the phone with 911, I was shocked several more times, I was conscious the entire time. Extremely painful and very embarrassing. Graeme was holding my hand and he felt one of the shocks go through me into him.  I was taken to the hospital again; my device was interrogated, and I was sent home.

After these incidents I developed some mental illness.  I started suffering from PTSD, agoraphobia, anxiety and severe panic attacks.  I wouldn’t eat sleep or leave the house and had continuous panic.  I took a few months off work to deal with these issues.  I still suffer today but not even close to the extent at that time.

I started gaining weight and drinking alcohol.  The food made me feel better and the alcohol made me forget about the anxiety.  I continued this for several years before I had the courage to get healthy again.  I had gained so much weight that I got to the point where I needed to do something about it but was afraid.  I started working out, but the anxiety got worse.  I decided to get myself a heart monitor so I could see what my heart rate was on a continuous basis to ease the anxiety. The monitor helped and I was finally back in shape again, but I was still eating junk and drinking. 

I got into a new long-term relationship in 2009.  In the beginning I was very happy, I thought I was going to marry him but, in the end, it was not the right relationship for me.  It was a very unhealthy relationship.  He was an alcoholic which did not help my alcoholism at all, it was just an excuse for me to drink more.  I had several heart episodes during the time I spent in the relationship which lasted 8 years.  I had gained all my weight back again and continued to drink more. The heart episodes happened mostly when I was drinking, and we were fighting. 

In 2013 Braden turned 12 and it was time to start testing him to see if he had Long QT syndrome as well.  He was referred to a cardiologist as well as a geneticist.  He was diagnosed with possible Long QT and was put on atenolol.  He refuses to take them because they make him tired and he feels that he shouldn’t have to take something for a condition he may or may not have.  I was sent for genetic testing to confirm that I have Long QT syndrome.  It takes a long time because we had to apply to the government to pay for the testing.  Finally, we got approval and my sample was sent in, the results were nothing.  I was not a match for any of the known mutated genes for Long QT, so do I have Long QT? We still don’t know.

In 2018 I was referred to another cardiologist that works with a genetic group.  I reviewed my whole story with him again and he said they would be in touch.  In 2019 I was contacted by a group called Care for Rare and I had been selected for a genetic research project.  My cousin had an eerily similar story when she had her son but was diagnosed with epilepsy.  I gathered all the information they had requested from me and my family as well as blood samples.  I haven’t heard anything since but maybe one day I will have an answer, I am very grateful to be a part of this project. I would like to have some answers for my son who is now 19 years old.  He’s been dealing with depression, anxiety and panic attacks this year and not knowing if he has Long QT or not is a struggle and very scary.  He does not take a beta blocker, but he is now taking an anti depressant.  He eats healthy and workouts out 4-5 days. He wears a fit bit to monitor his heart rate.  His family doctor has referred him back to a cardiologist, so I guess we will see what happens again. 

In 2022 I will be scheduled for my third replacement device.  I had my first replacement in 2007 and the second replacement in 2014.  I was not prepared at all for the first surgery but by the second I was a pro. The last surgery the nurse said they would see if the doctor could clean up my scar a bit, nope, when I removed my bandages, I had two scars now! What!! I was so upset.  My only concern this time is when will I be able to work out again.  I am quite fit now; I work out 6 days a week and eat a healthy diet.  Of course, I also eat the burgers, fries and pizza occasionally because I love food.  I still struggle with alcohol and I think I always will.  I try and have a maximum of 4 glasses a week and save it for the weekend. Holidays and vacations, I may indulge more then I should. 

I have learned a lot over the last 20 years, and I hope my story will help someone who is just starting this journey or needs some support.  My answers will come I will need to be patient.