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

This all started in 1980, on the night of Easter Sunday. My family spent a full day with my oldest brother, and then he went to bed, and died suddenly in his sleep. The autopsy didn’t determine the cause. He was 33 years old, so it left us in shock – how could he have died in his sleep? My parents struggled with how this could have happened, but over the years, we didn’t find an answer.

25 years went by, and we still didn’t have any answers. I went annually to get a cardiac evaluation, even in my twenties, because Charles died at 33. They would check and say that everything looked good. I was frustrated with my doctor’s office because of a billing issue, so I changed practices and went to see Michael Masciello of St. Francis Hospital South Bay Cardiology. He took my family history and asked if anyone else had died suddenly in their sleep – and both my grandfather and first cousin had. Dr. Masciello said that something was going on, so he was sending us to the guru. We went to NYU and saw Dr. Silvia Priori. They asked us to bring in as many family members as we could, or at least their EKGs. I never forgot the feeling of hearing her say, we know the cause of the problem – I could have cried. We went all those years not knowing what was going on.

She said that me and my three siblings all had Short QT Syndrome, and that’s probably what caused my older brother to pass. Many members of my family have SQTS, including my older brother’s children, my sister’s children, and 4 of my nieces and nephews and 2 of their children have been diagnosed as having SQT also. At the time, there were only about 125 people who had it in the world. Because sudden death is usually the first sign, not all people who have SQTS get registered as a patient. I feel fortunate that it was identified in my family. I’ve talked to one other person that has it, who is in Tennessee. It’s bonded my family together – we were overjoyed to have an answer, and overwhelmed that we were facing this, but we’re doing this for the next generation – we don’t want others to experience this same loss.

They told us we needed to get ICDs because there was no other way to prevent episodes. They worked with us diligently, and everyone got ICDs in August 2012. Since the implant, my nephew had a near miss in 2016, and an episode in the gym in 2019 where his ICD saved his life.

It was a shock when my brother passed away, and now having a cause is remarkable. When I tell people in the medical field, I get corrected. I say, “I have Short QT Syndrome,” and they say, “Don’t you mean Long QT Syndrome?” It’s hard to get across. Doctors tend to look at the high side, but not the low side.

What has been the most frustrating part of the process so far?

There’s just not much known about this condition. NYU has tried two different genetic testing companies. We need an expert set of eyes. There needs to be more research done to identify it. The fact that we now have a chance to get answers is very hopeful. I am realistic – they might not be able to find our gene. Testing could be way down the road to identify what’s going on.

What are you looking forward to learning from the researchers?

For our family, if the researchers could identify what’s causing our SQTS, then maybe there wouldn’t be a recurrence in the next generation of our family. It’s affected every generation so far, and I don’t want every generation to experience sudden death. That would be a miracle.

And I don’t want to stop there. What about others that could be experiencing it, but don’t know it? It’s so important to spread awareness.

How did you find the SADS Foundation, and how has it helped your family?

I did a lot of research early on, and wanted to talk to someone who had SQTS. SADS listed it as one of their conditions, but there was nobody in their database who had it. Even NYU could only have me speak to those who had different kinds of arrhythmias. SADS is working for the cause. It represents hope to us, and other families with arrhythmias.

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.

Name: Kellie Moore

SADS Condition: LQTS Type 2

Tell me a little bit about your journey with pregnancy and SADS.

My daughter, Sophia, will be four in April. She was born in 2017. I really didn’t have any huge concerns going in. It was just very exciting. But of course, I wanted to be very careful and make sure that we were taking proper precautions as needed. And my OB-GYN was wonderful; he wanted to do extra ultrasounds. My cardiologist in Missouri actually wasn’t as involved in that pregnancy. But I was very confident with my OB-GYN. He said, continue taking your beta blocker all the way through.

Sophia was always on the smaller side growth-wise. Then I went in for my appointment at 37 weeks, and I had an ultrasound that day. And she hadn’t grown since the last, and the amniotic fluid was really low. And her heart rate was pretty low. And the blood flow in the umbilical cord was low.

My OB-GYN said, it’s just time for her to be born. He recommended an emergency C-section. It’s kind of funny, I went in for a routine appointment at nine that morning and then had a baby at 1:17 that afternoon.

Sofia’s blood sugar was on the low side. So she went to the NICU for that. A few days after she was born, they wanted to transfer her to St. Louis Children’s Hospital so that she could be seen by a pediatric electrophysiologist. She saw Dr. Aarti Dalal (I loved her).

We got to St. Louis Children’s Hospital on a Friday. They ordered her genetic testing, but then we didn’t get the results back until a couple of days later. They recommended we go ahead and get her started on beta blockers. And so when she was six days old, she started on propranolol. I’m actually really thankful that she started early because she just has always been used to taking it. She’s just always been used to taking a little bit of medicine every day.

She’s been a very healthy, very active girl. And we’ve never had any big concerns with her. I’m really thankful for my OB-GYN and the fact that he just wanted to be very watchful. Because I think if he hadn’t been ordering all those extra ultrasounds, we wouldn’t have been tracking everything so closely.

When I had my son, I was seeing a different OB-GYN, and she still wanted to do the extra ultrasounds. I also had a new cardiologist. And when I told him I was pregnant, he told me I should stop taking my beta blockers during pregnancy. And that just didn’t sit right with me. So I went and got a second opinion from another doctor and he was like, you should absolutely keep taking your beta blockers. It’s especially important in that postpartum time. So I was really glad that I had gotten that second opinion.

Besides that, my pregnancy with my son was pretty easy. I didn’t have bad morning sickness. He was a scheduled C-section. He doesn’t have Long QT syndrome. But he was born with an extra finger and toe on each end and each foot, so he had six fingers on each hand and six toes on each foot. Everybody has something that they’re dealing with. Sophia has Long QT syndrome. Henry has these little extra digits.

Everybody has imperfections, but it’s those things that make us unique, and help us have such powerful stories.

What was the most challenging aspect of being pregnant with a SADS condition?

I had morning sickness all the way through. The first trimester, I made it through without nausea medication. And then the second trimester rolled around, and I was like, I can’t do this anymore. The nurse called and she said, Okay, there are three options for anti-nausea medication. So I pulled up my Credible Meds app. And I looked and it was one of them was Zofran. And I was like, well, that’s no, and then I forget what the other one was, but it was also a no, and then finally, the third one worked.

What advice would you give to someone who’s pregnant and has a SADS condition?

I think one of my big pieces of advice is if you feel like you need a second opinion, absolutely get one, because you are your best advocate. And if anything just sounds off to you, be sure to go get a second opinion. The other piece of advice would be to, especially postpartum, practice self-care. I think it’s very easy to kind of get lost in taking care of the baby, but we also need to take care of ourselves, as every mom does, but I think especially when you’re at high risk postpartum, it’s especially important. For me, that meant slowing down from a lot of things and stepping back from a few things that I was doing during that time until I felt like I was ready to pick things back up again.

How has the SADS Foundation been helpful to you?

My mom connected with the SADS Foundation when I was a kid. For a few years, Dr. Vincent was our doctor. We’re just really grateful for the SADS Foundation for being a resource for support for us, and for knowledge. We’ve also been to a couple of the conferences, we went to the one in Chicago, and that was really neat. We helped with the youth and teen events. It was amazing just to meet other kids, other teenagers who had this condition. Because I think it can be very isolating, because a lot of people haven’t heard of it.

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.

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.

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: Tisha M.

Age: 36 y/o

Which SADS condition do you have? Brugada Syndrome

When were you diagnosed? 12/27/19

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

How/when were you diagnosed?

I went to Urgent Care on 12/27/19 with complaints of flu symptoms. When the nurses checked my heart rate it was in the 220s. They did an EKG and I was in ventricular tachycardia. They immediately called 911 and sent me to the ER. My diagnosis was Brugada syndrome. I was in the CCU from 12/27-12/31. I had an ICD put in on 12/31 and was discharged the same day. I am recovering and getting back to the groove of things.

What has been the biggest challenge you’ve faced in living with your diagnosis? I have 2 young kids (1 and 3 y/o) and if it weren’t for the flu and urgent care visit that sent me to the ER I probably would’ve been dead or paralyzed. 

What is one positive thing that has come out of your diagnosis?

Getting the ICD which will save my life if ever I go in that rhythm again. To be able to get genetically tested and get my kids tested if I carry the gene potentially saving their lives. Raise awareness to encourage friends and family members to get tested if there’s any history of sudden death in the family – potentially be able to save their lives as well. I am Filipino and my risk for the Brugada syndrome is higher as it is common in Southeast Asian population.

What encouragement or advice would you give someone who has just been diagnosed with your condition?

To be able to find out sooner and get the proper preventative measures (ICD) is a blessing that will allow us to live a normal life.

What does your day-to-day life look like?

I was just diagnosed and just had an ICD placed a week ago. I am blessed to be alive, to be able to spend more time with my husband and kids, blessed to be able to bring awareness to this syndrome.

What are your favorite hobbies and activities?

Traveling, working out (I ran half marathons and did crossfit prior to having kids and up until I had my 2nd child. No symptoms of Brugada Syndrome back then), watching movies/TV series.

Name:  Olivia Kenworthy
Age:  12
Which SADS condition do you have? Long QT Syndrome
When were you diagnosed?  2 yrs old
How are you treated? Beta Blocker

How/when were you diagnosed?
An aunt “passed out” at work doing jumping jacks.  She was diagnosed with LQTS.  Genetic testing done.  Dad was diagnosed and then Olivia through genetic testing.

What has been the biggest challenge you’ve faced in living with your diagnosis?
Sports.  Olivia is a natural athlete and loves all sports.   I (her mom) always fear the worst and always wonder if sports is the right option.  I could make her unhappy by not letting her enjoy what she loves or I can make the biggest mistake by letting her play.

What is one positive thing that has come out of your diagnosis?
Awareness; when she has kids she will be more informed.

What encouragement or advice would you give someone who has just been diagnosed with your condition?
Get with other people who have a heart condition like this.  It is ok to get second opinions with treatments and doctors.  This is a rare condition so get the best medical care; don’t settle.

What does your day-to-day life look like?
She goes to school, plays volleyball….just your typical 12 yr old.  Behind the scenes, there is an AED nearby and an adult who is aware.

What are your favorite hobbies and activities?
Olivia enjoys volleyball and outdoor adventures/travel with her family and friends.

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Since receiving my diagnosis of LQTS Type 5 at the age of 12, I had always wanted to go to a heart camp. The children’s hospital where I received care in Alberta, Canada had posters for a heart camp in California on the wall but when I asked my doctor about anything closer, she told me there was nothing. I had essentially given up hope that I would ever have the chance to attend heart camp when I turned 18, shortly after having LCSD and my ICD implanted at the Mayo Clinic in Minnesota. 

However, I knew from following Facebook posts that one of our close heart friends (my heart sister, Michele) had sent her daughter to Camp Heartbeat in Virginia, close to where they live and she had a blast. When I researched the camp, I found out they accepted campers up to age 19. My mom and I then asked Michele if I could stay with her until she dropped both myself and her daughter off at camp since her daughter would also be attending. She told us absolutely, yes and thus the planning began. 

On June 16, I flew out to IAD (Washington-Dulles). Though the journey was far from simple or direct. A missed connection and being stranded in Atlanta, Georgia for hours on my first international flight on my own did not stop me. I stayed with Michele and her family for a week before heart camp. The entire time was filled with priceless adventures and memories I will treasure forever. It was an incredible feeling connecting with a family whose relationship and experiences with LQTS are so similar to my own. They live life and are not bound by fear or apprehension. In fact, they live more because of LQTS just like I do. During the trip, we visited caverns together, toured Washington DC, visited the Smithsonian Museum of Natural History, met their horses and chickens, toured a winery, and caught fireflies (for the very first time for me since we do not have fireflies where I live).

I will remember the way we hysterically laughed as Michele’s husband drove the golf cart down the golf course in the darkness of nightfall in their gated community after we caught the fireflies down by the river forever. The sketchy engine was incredibly noisy and leaked gasoline, so even our hair and skin smelt of gasoline afterward, yet we could not stop smiling and laughing. During our time together, we laughed, cried, and bonded. We immediately felt an incredible sense of connection that only intensified as the week progressed.

From June 22-27, I had my dream of attending heart camp come true at Camp Heartbeat in Virginia. The entire experience could only be summed up as incredible. The unspoken sense of community and connection felt by everyone was incredibly moving, knowing that we all understood more than most others could about the challenges and triumphs of living life with varying heart conditions. Although our heart conditions were different, we face many of the same obstacles. It was priceless to be with others who shared that sense of understanding. Everything was taken care of. I did not have to worry about anything. I got to be a kid for a week and my only major responsibility was getting to my next activity. Seeing the scars and hearing the stories from other kids made me feel so much less alone. I finally wasn’t weird or strange. I was no longer “the girl with the heart condition.” I was just Alexis. I was me. 

Throughout the week, I stepped out of my comfort zone and participated in a variety of fun activities. I ribbon danced. I did yoga. I painted, made bracelets, and made a clay strand of DNA. 

I laughed as we played Apples to Apples and UNO in the game room. We even had a spa night where I got to have my nails done. We sang along to campfire songs well into the dark of night by the lakeside and made s’mores. I also had the opportunity to meet the very first girl my age in person living with LQTS. She also has a pacemaker, while I have a dual chamber ICD/pacemaker which just added to the sense of commonality.

Even when a severe thunderstorm approached with gusts of 60 mph wind and we couldn’t leave our dorms, we didn’t let that stop our fun. As the rain poured outside and the wind howled taking the power out for hours we played UNO in the pitch black, chatted, and watched the storm. Once the storm calmed but the power was still out, we had the opportunity to participate in a doctor talk where we could ask the cardiologists any questions on our mind relating to our heart conditions or health care. The cardiologist emphasized an important point that I passionately believe in, simply put, “Live your life.” In addition, the doctor encouraged us all to take control of our own healthcare and ask any questions we have for our doctors ourselves so that we form a solid understanding of our own conditions.

A standout moment of the week for me was when we had breakout sessions split up according to age where we got to share both the challenges and the positives of living with heart conditions. Despite our heart conditions varying widely and some having electrical conditions and others having structural heart conditions, we shared many of the same difficulties and positive parts that come from our experiences with our conditions in high school. Many of us struggle with missing out on things and always having to catch up in school and life because of our health. However, on the other hand, having heart conditions has helped us to appreciate the little things. It made me less fearful. I live my life now instead of just being alive. I even traveled over 4,000 km from home to be at camp in a different country away from my family. It helps us to focus on what we can do rather than what we cannot. It helps us to realize our own inner strength and to be ourselves. It was also emphasized that we should remember that our goals are our own. They are not anyone else’s. Every day we wake up we are getting closer to our goals, not further away even though it may be slower than we would like. That was a powerful takeaway for me.

Throughout the week, we competed in events earning points for our randomly assigned teams for the Camp Heartbeat Olympics of Team Killer Whales and Team Great White Sharks. I competed in trivial pursuit and helped to make our team flag that was used in the Olympics. There was also a camp talent show that I watched with delight and I enjoyed cheering on the other campers.

I was reminded what a small world we all live in near the end of camp when the electrophysiologists switched off and Michele’s daughter’s pediatric EP came to camp to supervise. When we met, she asked me who my EP was. I told her, and she actually knew my EP well. She used to work in Canada, in the province to the west of me and met my EP at several conferences. She had even stayed in her house. She told me I had to say hi to her, so we took a photo together and sent it to my pediatric EP who promptly emailed me back filled with excitement. It was really neat that the EP looking after my little heart sister in another country thousands of kilometers away knows my own pediatric EP well.

At the end of camp, when all of the parents came each camper was presented with their own custom award. I was presented with the “Oh Canada… Award” for never complaining even when things were tough, being flexible, and being just as nice as you’d expect a Canadian to be. All week I answered random questions about Canada from stereotypes to the capital city, to what stores and fast food restaurants we have. The award fit me perfectly. I am incredibly glad I was able to have this experience. I truly felt as though I belonged and I will carry the memories I gained from this trip with me forever. Heart camp was an experience I did not realize I needed until I was already there. As an advocate in patient communities, I did not realize how truly alone I felt until I was surrounded by people who completely understood what I had been through and am going through. I also gained a second mom and a second family through Michele, which I am also eternally grateful for. The bond we share because of our similar experiences living with LQTS is something that surpasses all words and emotions. Both places felt like a home away from home even though I was so far away. 

If you are a kid or a teen with a SADS condition reading this, consider going to heart camp especially if you are struggling with your condition or feel alone. If you are the parent of a child with a SADS condition, consider sending your child to heart camp. I was safe the entire time. Medications were supervised. There were AEDs on site. There was a medical magnet that could have been used to disable ICDs. There were even device programmers on site that could have read pacemakers, ICDs, and loop recorders. Multiple doctors were at camp around the clock fully equipped to deal with any cardiac emergency. I never felt scared. The experiences I had will help me going forward in dealing with my condition. I am so glad I went when I had the chance.

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