When Joelle was 12, she passed out in church – and testing revealed that the culprit was ARVC. And it progressed quickly – a year after diagnosis, at 13, Joelle got an ICD to help regulate the “electrical chaos” in her heart.

Joelle had been a competitive figure skater before her diagnosis, and returned to the rink after her ICD implantation while being carefully monitored by her doctors. But it was hard for her to compete, and just a few months later, Joelle went into heart failure – and required a transplant.

She spent 48 days in the hospital before receiving a donor heart, and the transplant at Mayo Clinic was successful. Six weeks later, she was able to get back to the rink – and now competes as a figure skater again. Joelle now wants to go to med school and become a surgeon when she’s older, specifically pediatric cardiology.

“If it wasn’t for my donor and their family, I wouldn’t have received this heart, and might not be here today,” says Joelle. “it completely changes your life – it’s amazing.”

We spoke with Holly, Joelle’s mom, about the heart transplant process, and her advice for other families.

What challenges did Joelle face after diagnosis?

From my perspective, some of the biggest challenges were mental challenges, including being told that Joelle’s activity would need to be limited. She was a junior high athlete at the time, and very competitive. Her sports were her drive, and to be told that she had to stop playing volleyball and basketball, and stop figure skating, was difficult for her to hear. Dr. Michael Ackerman, her doctor, was very sensitive to her mental health, and allowed her to continue to skate while being supervised and educated about her limits so she could enjoy life safely.

What would you want other ARVC families to know about the process of heart transplant, especially for a young person?

Make sure to educate yourself! Everybody’s journey is different, and patience is very important, even though it’s frustrating to be patient. It pays off in the waiting process – while you’re waiting for a heart – and during the healing process. You have to be willing to deal with the deck you’ve been dealt, and just go with it.

Not only is the transplant process challenging for the patient, but it is also challenging for the caregiver. It’s important for the caregiver to take care of themselves. And make sure to take advantage of the time you’re in the hospital with your child. Although you’ll be well-prepared for discharge, you won’t truly know the challenges you will face until the time comes.

This process can be long and exhausting, and allowing your child to be both educated, and be a part of the decision-making process, is instrumental to success. 

What advice would you give to other parents who have recently received an ARVC diagnosis?

Make connections with other people. Dr. Ackerman connected us with another patient going through something similar, and that was our success. They helped educate us, and helped us learn more about the process. They were able to give us advice, be someone we could bounce things off of, and were there when we needed to vent. That’s what you need the most – a support system.

Can you tell me a little bit about your SADS journey – from diagnosis, to your dance competition this past Friday?

Alexis: I was shadowing a high school I was thinking about attending when I was in 7th grade, and I had a syncopal event. Afterwards, I had chest pain, so I went to the ER and they cleared me. I even went to a cardiologist, who said that everything was fine. They told me to come back in a year for a checkup, and at that checkup they saw a prolonged QT interval. Many doctors had missed it, and it was long enough that it shouldn’t have been missed.

We started going to different doctors to figure it out, and my mom’s research helped us get to the Mayo Clinic, where we could get Dr. Michael Ackerman’s opinion on whether I could continue to do athletics, and find a safe treatment option for me.

Meredith: She had a pre-screening cardiologist visit when she was ten. At the time, they said everything was fine, despite her having a pretty markedly prolonged QT interval. Over the course of her journey, she was missed by two cardiologists and two providers before we got a correct diagnosis.

Her syncopal event happened during a pep rally, which was very noisy, and in retrospect, it’s very suspicious of a cardiac event. And part of the reason that we’ve jumped into advocacy is that she was in a gym with an AED, and nobody used it or called 911. We’re hoping to better educate schools on what to do in case of an emergency. In the school where her event happened, they’ve since expanded their CPR-trained faculty, and are much more aware of what to do if someone has a cardiac event.

Can you delve a little more into specifically dance – how it felt to get your diagnosis as a dancer, and how you went from getting a diagnosis to dancing this weekend?

Alexis: At my initial appointment, the doctors said I wouldn’t be able to continue athletics or dance competitively. And that was really hard. But I didn’t feel like I could accept “no” as an answer, so my mom and I started to do some research. And we read stories about people who saw Dr. Ackerman, and his more modern take on LQTS – how it doesn’t always prevent you from being an athlete.

Meredith: It took a full year for her to get from diagnosis to feeling like she can do what she wants to do. She’s determined, and didn’t give up. And she’s blessed by having an amazing dance coach, who’s been willing to work with her no matter what. After Alexis initially got benched, she helped coach a youth team that was going to junior worlds, and helped them learn their dances. She went to the studio every night, even though she wasn’t dancing, just to stay involved.

We had a lot of setbacks – including a few medications that didn’t work – and she ended up with an epicardial ICD and a pacemaker. When she started dancing again, she hadn’t really danced in six months. And there were a lot of challenges – at first, on the beta blockers, she couldn’t get her heart rate up, and couldn’t dance at a competitive level. And Dr. Ackerman and our local cardiologist worked together to help make a new treatment plan that would work for her. It was amazing to have a team that was willing to individualize a plan so she could keep going.

When she finally could dance, her body was deconditioned from so much time off, so she got a bunch of injuries, including a stress fracture, which is not uncommon when someone goes from zero to 100 in a short period of time. She started cross training during the stress fracture to get stronger. She was really determined not to miss another season.

How has the Mayo Clinic team helped your family?

Meredith: They gave us our hope back. After being told she couldn’t dance, and that she had no freedom at age 14, we were living in a lot of fear. At Mayo Clinic, they did a thorough evaluation, and Dr. Ackerman spent a lot of time talking to us about her personal risk, and I felt comfortable knowing they had so much knowledge. When you’re missed by so many doctors, it’s easy to feel skeptical of everything. To live and thrive with a SADS condition, I think it’s really critical to know you have a good treatment plan that’s working so you can feel safe.

Now, she doesn’t think about LQTS all the time. She lives her life like a normal 14-year-old – except that she uses her experiences to help spread awareness. With the Kentucky Youth Assembly, she took a bill forward required AEDs in Kentucky high schools, and it passed, so now it’s in the capitol this February being considered for legislation. Someone who stood up as a “yes” for the bill in the audience had a best friend who had a cardiac arrest in the middle of lunch – just on a normal day in a Kentucky high school. It’s just so important to spread awareness.

How has the SADS Foundation been helpful for you and your family?

Alexis: It gives us a way to connect and do volunteer work, to reach out and help make a change and spread awareness.

Meredith: We started reaching out to our local media with our story because of a post on the SADS Foundation Facebook page. And SADS has been really helpful for good information. I listen to the webinars and join Friday’s SADS Live programs. I think anyone with a SADS condition can benefit tremendously from gaining education, because there’s such a gap in knowledge in the medical community, and families with SADS conditions need to advocate for themselves. SADS plays an important role in helping equip people with the education they need to advocate for their families, and help optimize their care.

Is there anything you would want to say to other teenagers who have recently received a SADS diagnosis?

Alexis: When you get your diagnosis, it might feel like the end of the world, but it’s really not. It could be worse – the scary part is not knowing. Because with a diagnosis, you can take steps to get treatment and stay safe. And I’m glad I advocated for myself to keep dancing, because it was hard, but it was worth it.

When I went to my original appointment with Dr. Ackerman, I had these socks that had flying pigs on them. Dr. Ackerman asked how important dance was to me, and I said, I’ll stop dancing when – and then I pointed to my socks.

Is there anything you would want to say to other parents who have recently had a child diagnosed with a SADS condition?

Meredith: Take a deep breath. It’s going to be scary, and it’s a long process. But getting diagnosed, and getting treatment, is a blessing. My heart goes out to the families who didn’t have the opportunity to have their child diagnosed, especially for such a treatable condition – it’s a medical tragedy. So it’s important to know that a diagnosis is a blessing in a way – it’s the beginning of getting safe.

Get reliable information – avoid random Google searching. Make sure you’re advocating for your child and get a timely visit with a provider with expertise. Don’t be afraid to ask questions. We kept asking why she couldn’t dance. If dancing had been too risky, we wouldn’t have continued to pursue it – but that wasn’t true in her case.

There’s a light at the end of the tunnel. With proper treatment, it gets less scary. It’s okay to have hope for your child, and to hope that they’ll be able to have a normal life. Make sure to follow the doctor’s instructions, no matter what – and you can live and thrive.

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.

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

The first time I had my cardiac arrest was February 13^th, 2016.   My cardiac arrest occurred when I was at baseball practice and I told my coach I did not feel right and was having a lot of pain.  I thought it was just muscle pain, but I ignored it and a few minutes later it came back.  My coach told me to sit down for a few minutes.  Then it was my turn to play baseball.   Then, all of a sudden, I collapsed on the baseball field and suffered a cardiac arrest. 

Because of the life-saving measures of my coach who did CPR on me and 911 emergency services, I survived!   My heart had stopped beating and I had no pulse.  They performed CPR on me until the ambulance came.  I was air lifted to the Children’s Hospital, Lucile Packard at Palo Alto Stanford.  I was in the intensive care unit for two months straight fighting for my life!  

Thanks to my coaches, I am alive today.   I had symptoms on the same day of the game and my cardiac arrest, but no symptoms the day before.   When I woke up, I was in the hospital.  Now, I see my cardiologist every two months for follow-up. 

Do you have an SCA survivor story? We’d love for you to share it with us! Just send a short video (1-3 minutes long) or a written story to SADSblog@SADS.org. 

Name: Karly Gonthier 

Age: 13

Which SADS condition do you have? CPVT

When were you diagnosed? June, 2019

How are you treated? (Beta blocker, ICD, etc.) Beta Blocker, calcium channel blocker

Personal Questions

How/when were you diagnosed? The day after my 13th birthday, I collapsed during a dance dress rehearsal.  This was the 3rd time I had “passed out” like this.

What has been the biggest challenge you’ve faced in living with your diagnosis? Not being able to participate in summer activities and my favorite sports

What is one positive thing that has come out of your diagnosis? I got to travel to Minnesota to see Dr. Ackerman at the Mayo Clinic

What does your day-to-day life look like? In cardio activities always checking my heartrate, and always taking medicine day and night

What are your favorite hobbies and activities? Baking, and cooking, taking walks, spending time with friends

How has the SADS Foundation been helpful to you? I have been able to see others with my condition, older and younger.

Name:  Cian Bennett

Age:  13

Diagnosis:  Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT)

Age of Diagnosis: 13

What led to your diagnosis? 

I had a fainting episode at home and my pediatrician sent me to a cardiologist.  My first visit was okay and they thought it was just vasovagal syncope.  My cardiologist wanted me to follow-up the next year and at the follow-up he decided he wanted to send me home with a holter monitor because he saw a slight change on my EKG that was still considered normal but was different than the prior year.  My holter monitor results showed PVC’s and arrhythmias so he scheduled me for a stress test.  The stress test was very abnormal and showed polymorphic ventricular tachycardia during exercise.  I was then sent to a cardiac electrophysiologist.

Where you involved in any sports or activities that had to be modified or stopped completely when you were diagnosed?

Prior to my diagnosis I was very active.  I love sports. I attended basketball camps, played little league baseball, and played basketball with Upward Sports for many years. When I was diagnosed, I was in 7^th grade athletics at my middle school and was one of the managers for our basketball team.  

After my diagnosis my doctor restricted my physical activity and I am no longer allowed to participate in competitive sports.  I can only do light physical activity with supervision.   I would love to still be able to participate fully in my athletic class at school and try out for sports at school such as basketball.  My doctor says I can still manage sports at school but not play or compete.

What are some of the things that helped you adjust?  What did you do that helped?  Did you develop new interests, if so what were they?

I always loved to play on the X-box and PS4 before my diagnosis but now that I cannot be very physically active, I play on these so much more.  I love Fortnite, Road to the Show 20 and NBA2K.

What were some of the hardest things about being diagnosed?

The hardest thing about my diagnosis is not being able workout and play sports.

What are some of the good things that have happened to you because of your diagnosis and what are some of the things you have learned?

Because of my diagnosis, I met a new friend through the SADS Teen Chat Zoom that I now play Fortnite with on my PS4.  It is nice to be able to talk to someone who has a similar diagnosis as me. 

What was the best thing your friends did to support you?

My friends understand that there are some things I just can’t do anymore but there are other ways I can still be involved in athletics and sports. My coaches at school allowed me to stay in athletics class even though I was very restricted. It made me happy that I could still participate and stay in athletics with my friends.

Medication:

I don’t mind taking my medication because I know it is helping me.  I haven’t really had any issues taking it.  I take Nadolol and Flecainide.

If you could give encouragement to newly diagnosed children or teens what would you tell them?

I would tell anyone diagnosed with my condition that even though I am limited with physical activity and sports, there are other things I can still do.  I am also glad there is medication that can help.  My mom tells me that I just have to think a little differently about things now. I may not be able to do all I could before but I can still do other things I enjoy and I try to focus on that.

Quality of Life:

Physical:  7

Mental:  10

Overall:  10

My name is Jessica, I am 22 years old and I have LQTS.

Throughout my childhood and adolescence, I was involved in many activities, including cheerleading, softball, and my high school’s marching band. While these activities were fun, they caused me to suffer from headaches, nausea, and sometimes temporary confusion and dizziness. Since I have no family history of SADS conditions or symptoms, physicians would consistently tell me that I was suffering from heat exhaustion and dehydration. I was told to drink water before physical activity and I was sent on my way. I never realized that these symptoms could be indicative of something more serious.

During my junior year of high school, I had a really bad cold and decided to take cold medicine (which I now know is something I should avoid). Since I was so sick, I was not paying attention to how much I was taking, and ended up taking the maximum dose one can take within a twelve-hour period. During chemistry class the next morning, I stood up to go to my lab bench, and once I got there, I fainted for the first time in my life. I was sent home and immediately was taken to my primary care provider. I was told that it was probably just a one-time thing since this was my first episode; however, we were not satisfied with this answer. We decided to go to the ER and it was a good thing we did! I was given an EKG among other tests and was sent home. At a follow up appointment, the physician said “Long QT” was noted on my EKG and we were told to see a cardiologist.  The cardiologist confirmed that I had Long QT Syndrome through EKGs, Holter monitors, and a tilt table test. Since being diagnosed, I was put on beta-blockers and have never had a second fainting episode.

The biggest challenge that comes with this diagnosis is the long list of medicines that should be avoided, including common things like Benadryl and Sudafed. As I mentioned before, every year I get really bad colds and I was told to avoid typical cold medicines, like DayQuil, by every pharmacist I talked to. Through a lot of trial and error, I learned that Mucinex (not Mucinex DM!) and cough drops work the best for my cold relief. I am so happy I found this combination because I no longer have to suffer through long colds. 

While this diagnosis came with many challenges and over the past 5 years I have learned to advocate for myself in healthcare settings. I am typically a quiet person, but I have learned to speak up when discussing treatment options with physicians. Long QT is rare and is probably not the first thing a physician thinks about when prescribing a medication. I definitely became the most annoying patient ever by asking a million questions and checking CredibleMeds every time my physician mentions a drug, but I have learned that if I don’t ask questions or check drugs, I am prescribed something that I cannot take and the pharmacist refuses to give it to me. As a future physician assistant myself, I understand that rare conditions can be forgotten about, and therefore, I have learned that if I am not annoying about my condition it will probably be overlooked. Even though I feel bad questioning their every move, all of my physicians have been extremely understanding and accommodating to make me feel safe. I definitely appreciate everything my physicians, PAs, and nurses do to ensure I am taken care of properly.

Name: Ayden

Age: 13

Diagnosis: Long QT type 1; diagnosed at age 12

I was really sick and dehydrated my mom took me to the doctor and they sent me to the ER to get IV fluids. The doctor did an ECG to see if she could give me some medicine to stop puking and noticed an abnormal ECG. Then she referred us to a cardiologist.

I played a lot of sports – I wrestled on a traveling team since I was 5, played baseball, and football. When I saw the cardiologist he did another ECG and it had a prolonged QT interval also and he took me out of sports until we had some more answers. I have an EP now who is awesome! He started me and my sisters (we found out they have LQTS also after genetic tests) on beta blockers. We live in the middle of nowhere so after he was able to help get us AED’s he approved us to do sports while we take betas.

The only thing I really can’t do anymore is swim alone.

The hardest thing about being diagnosed, is that I have always wanted to follow in my dad’s footsteps and join the Army. I want to go to WestPoint and serve in the Army as an officer in the medical field, I still have to talk to a recruiter, but it will be really hard if not impossible to join with LQTS. My dad thinks I can go to school as a civilian and still help. It’s also hard when kids don’t understand my condition, I even had a coach who wouldn’t let me participate in certain things when I had an activity monitor even though the doctor said it was ok.

It helped that my mom and sisters have it too, we can talk about it and the SADS chat group was really cool to get to talk to kids that have the same condition.

I have learned that it’s not something to joke about, I need to take it seriously. Some good things are:   now I am prepared! I take my beta blocker every day and my doctor says that lowers my risk of an episode a lot!

I haven’t been diagnosed for very long, less than a year but I used to take being active and in sports for granted it didn’t seem like a big deal to be involved. After I lost sports for 6 months while we did tests, I missed them a lot. Now I give 100% every practice and event because I am so happy to be able to do them again.

One of my closest friends wanted me to stay for a sleep over and my mom was a little worried, my friend’s mom got CPR certified and showed me her certification and told me that she was trained if anything happened so I didn’t worry.

Sometimes I forget to take my beta blockers, it makes me really nervous!  Now I remind myself every night before bed to remember and take them.

My advice to a newly diagnosed child or teen is to not listen to negative people. Thank your friends and family for supporting you.

(MOM) The encouragement I would give to other parents who have children recently diagnosed would be to join a group, there is so much support and understanding. The people in the groups can be so supportive, even if it’s just to listen to you vent. One piece of advice would be to write your questions down to ask your doctors and to not be afraid to ask them. We are really fortunate to have an amazing EP who takes as much time as it takes at our appointments for me to feel comfortable that my questions have been answered and I understand what our health plans for the kids are.

Quality of life

Physical quality of life:  8

Emotional quality of life:  10

Overall quality of life:  9