Back in 1992, I was diagnosed with a condition called Long QT Heart Syndrome. Doctors discovered it through medication interactions, which caused a cardiac arrest. Doctors didn’t know as much about the condition back then, and I was actually in a coma for a couple of days before they thought to look for LQTS. At that time, I was told that I had tons of restrictions – which came from a lack of knowledge on the doctor’s part.

Unfortunately for my family, we didn’t know enough about LQTS to know it was genetic. At that point, we just thought it was medication-induced. And in September of 1994, my grandmother passed away from LQTS after being given a QT-prolonging medication. We didn’t know she had a SADS condition. After that, we had family genetic testing done. After I had my three daughters, we had their cord blood tested, and one of my three daughters also has LQTS.

One of the biggest challenges I faced after diagnosis was the lack of knowledge. To be 18 years old – a senior in high school – and to have this scary heart condition, and then to be told you can’t do sports, and have to be careful with every single little thing you do – that’s really hard. The following August, I went to college three hours away, with doctors that weren’t my diagnosing doctors, and that was hard too.

If you’ve just been diagnosed, I’d encourage you to read about the condition, but also take anything you read with a grain of salt, because 90% of online stuff is going to represent the worst-case scenario. It’s scary enough to get this diagnosis without reading worst-case scenarios! You’ve got to find people and places that have good information, and find facts more than emotion, which is really hard – because when you’re first diagnosed, it’s all emotion. Get involved with your heart community, because that’s where you’re going to find the people that will help you find good information.

The SADS Foundation gave my family the knowledge that my LQTS might be genetic and not just induced by medications. And then it helped us after my grandmother passed away to start asking questions. Without SADS, I also would never have known about CredibleMeds. When my daughter (who’s now 14 years old) got her first phone, the very first thing I downloaded for her was the CredibleMeds app.

And when we went to the SADS International Family Conference in Ann Arbor, by talking with other parents, doctors, and SADS staff, I discovered that I really should have a 504 plan in place for my daughter – a medical action plan. Talking with other parents helped me learn that it was good to advocate and be assertive, and I pushed her school to get a 504 plan in place. For any parent, that helps so much with peace of mind.

Over the last two years, the SADS Foundation’s SADS Live program with Dr. Michael Ackerman have been phenomenal. I’ve said to many people, with what other condition can you get access to one of the world’s preeminent experts, hear what they’re saying, and ask them your questions as they come up? That’s huge.

In 1997, my wife and I had three kids. Our son Michael, who was eleven, had fainted twice. The first time, it was explained away by the E.R. and his pediatrician as a vasovagal episode from unusual activities. The second time, he got an EKG and was examined by a neurologist and cardiologist. Nobody ever mentioned Long QT, and he was given a clean bill of health.

In June of 1997, we went on a family vacation to Israel. My oldest son was turning 13, and it was his Bar Mitzvah. With a group from our synagogue, we toured the country. On the day of his Bar Mitzvah, we went into the desert. It had been a very long and hot day, and we had a swimming pool party that night. Michael and his sister were swimming – they were holding their breath and doing laps underwater – when Michael became unresponsive. My wife jumped in the pool, and we did CPR by the side of the pool for 40 minutes or so. There was no 911 available – we were in the middle of the desert – and there was no defibrillator, which we found out later was what we needed. 45 minutes later, an Israeli helicopter with a medical unit arrived. They tried to revive him but couldn’t. He passed away in our arms, with his brother and sister watching. It was very traumatic.

It never sat right with me that the cause of death listed on the death certificate was drowning. Michael was a healthy eleven-year-old – he was very athletic; he could run and play for hours. The only concern we had was that he’d fainted twice. About six months after he’d passed away, I was going through some paperwork and came across medical files from several years before when he’d had his EKG. I took it to the Cleveland Clinic, where they had a renowned EP department, and showed it to the head of the department – who’d known Michael, even coached him in soccer. He had tears in his eyes, and said that it was abnormal – it showed a very long QT interval. Michael had been misdiagnosed.

This was 1997, so there was no easy access to genetic testing. There was a well-known cardiologist in Rochester who went over our records and said that he, too, thought Michael had LQTS, and that it would be great to prove it. He recommended that we call Dr. Michael Vincent, who was wonderful – that’s how I found out about the SADS Foundation. It took almost a year to get our genetic results, but we did finally get a call confirming that Michael had LQTS, which was the likely cause of death, and that the rest of our family needed to be tested. Michael’s mother and my daughter both also have LQTS Type 1.

The two things that really helped me personally were Compassionate Friends – an organization that helps bereaved parents; I went to their meetings once a month – and the SADS Foundation. They helped put me in touch with a community, and gave me a way to help others through volunteering and donating. I love their annual meetings, their medical and research programs, and everybody there.

These conditions can be particularly hard because the first time a family finds out about them, is often because of an event – like a sudden death, in our case. These conditions are also hard for other members of the family. My daughter was only eight when her brother passed away. When we were told what she had – many years ago – we were told to stop any physical activity she was engaged in (she was a member of the soccer and volleyball teams at the time). We were petrified as parents, because they told us that a sudden startle could trigger an event. We had friends who wouldn’t let her sleep over any more – because what if something happened during the night? It changed her life forever.

I’ve talked to lots of families about grief – about embracing the grief and not running from it. The great physicians, like Dr. Ackerman, come as close to understanding it as anyone outside the experience can, but there’s nothing like talking to others who have gone through this experience themselves.

Grieving is a long process. Over time it gets better – it never goes away, it’s always there, but it eases over time. You can go on with life and find joy and happiness again.

In 1999, we got a phone call on a Friday from our son who lived on a college campus where his sister also went to school. We were on vacation. He said that his sister had passed away – he wanted to tell us before the police called us.

Nobody knew why she had passed away. She was working at the public safety dispatch the previous night (which was her job at school). In the morning the fire chief didn’t hear from her, and after they called her a few times and didn’t hear from her for over 30 minutes, they decided to check and see what was going on. They found her down, called 911, and started CPR. She was taken to the ER, where attempts to resuscitate her failed.  She was then transported to the coroner’s. Because she was in a college community, the police roped off the area – they didn’t know yet if her death involved drugs or foul play.

When my husband and I arrived at the coroner’s, we were not allowed to see her, and were told they would be doing an autopsy. They warned us that it could take two weeks to a few months to get the results. I remember the coroner saying that even though it was a coroner’s case, they sometimes didn’t find the cause of death. They said that sometimes they ended up writing down “cause unknown.”

A nurse from the ER who was not on duty when my daughter came in called us and said that she was so sorry for what happened. She didn’t think my daughter was mixed up in drugs or a bad situation – and she was healthy, a volunteer firefighter. The ER nurse said that in case the coroner didn’t find anything, she had some information she’d be happy to drop off for us. Her daughter had a condition called LQTS.

My sister was very close to my daughter. She introduced her to lots of girlie stuff, and they went on a lot of adventures together. She wanted to fly out to the service but couldn’t because she had young children. She was talking to my mom about the service, telling her which flowers to get, when suddenly she went quiet on the other end of the phone. She was calling from the bathroom because she didn’t want to wake her children, and her husband was in bed. He heard the phone drop on the floor in the bathroom, and went to see what was going on. He told my mom that my sister had collapsed, and he performed CPR and called 911. She was admitted to neurocritical care; they thought she’d had a seizure. After doing a cardiac workup, they discovered that she had LQTS, and she was given an ICD. She’d never had an episode in her life before that day.

We called the coroner and told him about the new diagnosis in our family. He’d never heard of LQTS, but said it could make sense for other young people he’d seen as well. Because my daughter was a volunteer firefighter, she’d had a physical less than a year prior to her death – and it included an EKG. After fighting HIPAA, we finally got that EKG sent to my sister’s EP in Michigan, who said my daughter had LQTS too.

The nurse who had offered to give us information about LQTS told us about a foundation in Utah called the SADS Foundation that specialized in supporting families. We contacted them and they were very helpful, and gave me the names of about a dozen families who had also lost young daughters to LQTS, and we connected and shared our experiences. It was amazing how similar our stories were.

Two or three years later, my son sent me an email about a research project from Mayo Clinic on LQTS, where they could do bloodwork and genetic testing. I participated in the study. When I got an EKG shortly after my daughter’s death, I was diagnosed with LQTS and placed on beta blockers, which were hard for me to tolerate. I got a cardiac consult with someone on my health insurance plan, who did a ton of tests and said that because I was in my 40s, I would be fine, and that this condition was new and therefore over-diagnosed. He took me off the medication and told me not to worry.

During the course of my testing for the study, I did a treadmill test, where I was again diagnosed with LQTS. They drew my blood and sent it to Mayo, and said it was possible that other family members were affected, and that sudden cardiac arrest does happen to older women. I got another consult, and this doctor said that with my family history, if I couldn’t tolerate beta blockers, I should at least get an ICD. He compared it to a seatbelt in a car – most of the time you don’t need it, but when you do, it saves your life.

A few years later we got a call from Mayo Clinic, saying that they had the result of the research, and that my blood showed my family did have LQTS Type 2. My sister, son, and grandson also ended up having it. My son had already been diagnosed shortly after his sister’s death and had an ICD.  He was told his son, however, did not have it after he had contradictory EKGs.  After the genetic testing revealed he did, he was seen by a pediatric electrophysiologist and placed on medication. He eventually, at age 9, had an ICD placed. My granddaughter, who had been on beta blockers since birth because she was diagnosed with LQTS by EKG when she was born, actually ended up not having it. That’s why genetic testing is so important – because the EKG is tricky to read.

Through the years I’ve kept in contact with the SADS Foundation. I’ve participated in research and been a part of SADS Safe Schools, especially in Modesto, and made sure that all our school districts and school nurses knew about it. They have been a great source of information over the years, which is why we are supporters of the SADS Foundation.

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.

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.

Name: Cynthia

Age: 58 years old

Which SADS condition do you have? Type 1 LQT

When were you diagnosed? Since 2008, over 10 years

How are you treated? Toprol

How/ when were you diagnosed? My diagnosis began through a routine primary care visit that discovered it through EKG abnormalities several times in office visit.  Doctor referral was sent to cardiologist for further tests and exams and then genetic testing confirmed.

What has been the biggest challenge you’ve faced living with your diagnosis? The challenges I’ve faced with this diagnosis is not being able to do the things I used to do in my life prior to my diagnosis. Also, my strong faith in Jesus Christ helps me live with hope not despair.  

What is one positive thing that has come out of your diagnosis? The one thing that I can say positive about being diagnosed early in my life.

What encouragement or advice would you give someone who has just been diagnosed with your condition? I try each day to live my life on purpose and I believe we’re here for a purpose. I believe in showing kindness and compassion toward people who cross my path.  I love people and believe there are good people in all walks of life. My advice to a newly diagnosed person: remember that I would say to take it one day at a time.  Live life with joy and peace in your heart and know you’re not alone.

What does your day-to-day life look like? My life is fulfilling and I enjoy each day that God has allowed me to live. My peace is my joy, not allowing the cares of the world weigh me down, instead I pray for peace on earth. 

What are your favorite hobbies and activities? I like reading a good book of Christian Fiction and eating good foods, traveling to new places and seeing interesting things. 

Name: Amy

Age: 29

Which SADS condition do you have? Long QT Syndrome Type 1

When were you diagnosed? 2020

How were you diagnosed?

Back in 2019 my doctor at the time wanted to do an ecg as I never had one before in my life and just wanted to check on things. He found that my QT was very long and didn’t like it so took me off of medication I was on at the time to see if that would help and unfortunately it didn’t. Then things kind of went downhill for me. I started having fainting spells and didn’t know why they were happening and I constantly had palpitations that would keep me awake at night. So then after a couple of E.R/hospital visits they wanted to investigate further as they weren’t happy with the ecg results I was getting. Then the anxiety of not knowing what was wrong started and it was the absolute worst time of my life. I was afraid I was going to die. I wouldn’t leave my bedroom and I had between 10-15 panic attacks a day. I was so low that I didn’t even have any concept of my own hygiene and I didn’t care about anything. I was then diagnosed with Generalised Anxiety Disorder, Manic Depression and Agoraphobia. So things we very bad for me for months and the not knowing what was wrong with me made me worse. I was constantly sick (vomiting and just generally felt unwell) and then after a fainting episode I ended up in hospital and had to stay for 11 days as I was very unwell. That’s when the ball got rolling in diagnosing my Long QT Syndrome (Type 1). Being in hospital was the loneliest I’ve ever felt. I wasn’t on any anxiety medication as my ecgs were abnormal so the cardiologist in my hospital finally started me on anxiety medication and a beta blocker while they were figuring what was wrong with me. I had all the tests, a stress test, an echo of my heart, holter monitors and many of them. Then I finally had genetic testing done and had to wait 11 months for my results. I got my results in November of 2020 and it came back as positive for Long QT Syndrome Type 1 with the KCNQ1 gene and they think I may be the only one in my family to have it. So basically it just started with me. Ever since then I’ve accepted my diagnosis and I’ve been a lot better with my anxiety and depression.

What have you learned from your diagnosis?

I’ve just learned that life is short and I’m so lucky to have found out the way I did rather than having a Cardiac Arrest as my first symptom.

How has the SADS Foundation been helpful to you?

I really enjoy the lives that SADS does every week on Facebook and YouTube as you can ask Dr. Ackerman or other doctors questions which I have found to be very helpful.

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.