In November 2022, we asked people to share their stories as they took our genetic testing survey – and we are so grateful for everyone who talked with us, wrote down their story, or left us a voicemail! Here are some of the stories shared by the SADS community.

If you want to share your genetic testing story, you can do so here.

Clare

SADS Condition: LQTS Type 2

Diagnosed
: I was diagnosed in 2017, eighteen months after Kayleigh, my 19 year old daughter, died in her sleep.

I had a seizure in my sleep when I was 18 years old, and was subsequently given multiple EEGs to test for epilepsy. Despite no evidence of epilepsy, I was placed on Dilantin for a year. In checkups over the years, I mentioned this seizure to multiple doctors, but it was never further investigated.

Kayleigh had some symptoms of her condition. She would get a bit light headed, and had a couple of fainting episodes. We put it down to her height, or the heat, or low blood sugar. Six weeks before she died, she took a nap, and had a seizure, but woke up. The doctor scheduled her for an EEG and we were told it was likely the stress of exams, that “everyone gets one free seizure”, and that we shouldn’t worry. She never made that appointment. No one told us that a seizure while sleeping meant her heart needed to be checked.

Kayleigh was studying biomedical engineering at the University of Guelph in Ontario. She was smart, athletic, and kind. My family is lost without her. Thanks for the work you do.

What has been the biggest challenge you’ve faced living with a SADS condition?
My biggest challenge is knowing that if I’d had more knowledge about SADS symptoms, I would have been able to save my daughter.

What encouragement or advice would you give someone who has just been diagnosed with a SADS condition?
Spread the word. Tell everyone you know, and ask them to tell everyone they know, about your condition and about the symptoms.

Debbie

SADS Condition: LQTS Type 1

Diagnosed
: SCD at age 30 when I was post-partum with 6 month old twin girls. Had an episode in the ICU and was diagnosed with Long QT. Worked as a nurse to do a research study on SCD and made sure all family members were tested.

What has been the biggest challenge you’ve faced living with a SADS condition?
Feeling guilty that I passed on the gene to my twin girls who are now 30 and my 1st born grandson.

What encouragement or advice would you give someone who has just been diagnosed with a SADS condition?
Be proactive in your medical care. Be a teacher to those that don’t know about various cardiac conditions. Be an advocate to get AED’s in all schools, gyms, businesses. You can help make a difference.

What would you like other people to know about your condition?
It can be treated if detected early with oral medications and knowing about what you’re dealing with will help with choices of what you can and cannot do.

“My advice is to learn as much as you can. Join several online support groups and yet, always, always check with your personal cardiologist if you have any questions as all about a treatment. Tell all family members about Long QT and encourage them to get tested by an electrophysiologist!”

 

Marsha

SADS Condition: LQTS Type 2

How and when were you diagnosed?
My daughter was diagnosed in 1993. I was then correctly diagnosed with LQT and no longer treated for epilepsy. I was misdiagnosed with epilepsy for 23 years prior to this. Old medical records were retrieved from KUMed for my mom (she died suddenly in 1977), my brother (he died suddenly at age 18, in 1966) and for myself. Fortunately, we all had old EKGs that showed Long QT on them. In 1994, there was a big push to discover new genes and I had 2 different researchers contact me since we were a large family. My grandmother had 9 children so this was a perfect fit for their research. I didn’t know what to do. Dr. Arthur Moss called me on a Saturday morning. He told me that he would bring a team from Rochester, NY to test all of the relatives that I could gather. It would be at no cost to us. I got to work and notified as many as I could. On the day of the testing, there were over 100 people having EKGs and giving blood samples. Both researchers would receive the information. It was surreal! We eventually learned that our gene was LQTT2 and we had inherited it from my 102 year old grandmother. She was never treated for it and thankfully, she wasn’t aware of this. She had lost 3 sons, a daughter and several grandchildren to sudden death, due to undiagnosed Long QT. Multiple family members were surprised to learn that they had the gene. We were also able to have answers as to why some members had died suddenly as their children had the gene. Answers are wonderful in hindsight and closure was good. Those that were diagnosed were then treated and since then, we have had no more sudden deaths in our family. I am forever grateful to Dr. Moss and our own cardiologist, who connected us with him.

What has been the biggest challenge you’ve faced living with a SADS condition?
The biggest challenge we faced at the time was getting medical professionals to listen to us. Long QT was not well known at the time. There are so many meds that we can not have. It was hard on my daughter, and later her son, to have restrictions on their physical activities. In the beginning, I was so scared for my daughter, who was 16 at the time and had been very involved in sports. It was difficult to see her have to give that up. It was a bit easier for my grandson as we know he had the gene from the time he was born. I am still facing medical people that do not like it when I question them about a new medicine they want me to take. I believe they find it insulting that a patient knows more than they do. I am always grateful when doctors and nurses know about Long QT and respect my knowledge. One has to be their own advocate.

What encouragement or advice would you give someone who has just been diagnosed with a SADS condition?
My advice is to learn as much as you can. Join several online support groups and yet, always, always check with your personal cardiologist if you have any questions as all about a treatment. Retrieving old medical records can be so helpful as well. Tell all family members about Long QT and encourage them to get tested by an electrophysiologist!

What would you like other people to know about your condition?
I would like people to know that with the right treatment, life goes on and can be fairly normal. It is always important for others to know about Long QT and what to do in an emergency. I do take beta blockers and have an implanted pacemaker/defibrillator. I also know how it feels to pass out due to Long QT as that happened to me many times prior to being treated for epilepsy. The medicines I was on then were “fair treatment” for Long QT so I was blessed in that manner. I want people to know that it’s genetic and can only be passed down if a person has the gene. Also, not everyone inherits the gene. If it’s not inherited, it can not be passed down.

Not everyone experiences Long QT in the same way. Some only have to be checked periodically, others have to take medication and still others need an implanted device. Listen to your doctor first. Never hesitate to contact them with questions about your treatment, symptoms you may have or questions about other doctors’ treatment. Be your own advocate!

Scott

SADS Condition: LQTS Type 2

Diagnosed: My son had an EKG prior to going on ADHD medicine known to prolong the Qt interval and they noticed his was already elongated. The Dr had him tested and he tested positive for the genetic form of LQTS Type 2. The Dr recommended that my wife and I get tested and I tested positive for LQTS Type 2 as well and my wife was negative. My parents both got tested and mom tested positive. This was in 2013.

What has been the biggest challenge you’ve faced living with a SADS condition?
Having to be on Nadolol.

What encouragement or advice would you give someone who has just been diagnosed with a SADS condition?
Get yourself a good cardiologist that is familiar with, and keeps up to date with, LQTS.

Tahli

SADS Condition: LQTS

How and when were you diagnosed?
Diagnosed due to having a baby with heart problems, led to him being genetically tested. He was found to have trisomy 16 microduplication, which is genetic and causes aneurysm. So I was then tested for T16 aneurysm, they found no aneurysm but T16 and Longqtc was present.

What has been the biggest challenge you’ve faced living with a SADS condition?
I think being told at what I feel is a young age of 30 was a shock, but also a relief it had been found and explained why all my life I had feelings of a racing heart, but thought it was normal, as everyone mentions palpitations at some point in their life. But by 32 I was put onto beta blockers and currently under investigation still. This is when I knew it wasn’t just palpitations, I could be sitting at home doing nothing and my heart would race to 182 bpm from a healthy 64 bpm, and my fit bit would naturally start logging me as doing a cardio workout and put me into the fat burning zone.

Living with this underlying condition makes me feel trapped and limited in what I can do, and it’s something that everyone should be told and trained in from a young age! Know the signs!

What encouragement or advice would you give someone who has just been diagnosed with a SADS condition?
Research, join forums on social platforms, talk to people. And find yourself a good cardiologist that specializes in it, not just a general consultant. Try not to become limited by yourself! Still live your life. It’s not “just palpitations” it’s something much bigger and should be taken seriously.

Kori

SADS Condition: LQTS Type 2

How and when were you diagnosed?
On April 1, 1993, at the age of 14, I passed out at school, hitting my head on the concrete floor resulting in a seizure. I was initially diagnosed with epilepsy and started on Dilantin. After multiple tests, including cardiac and neurological, doctors concluded that I did not have epilepsy or an underlying heart condition, but that it was not unusual for young girls to suddenly experience syncope episodes. I found that to be interesting since none of my friends had passed out in the school hallway and seized before.

Because I didn’t have epilepsy, I was weaned off of Dilantin and on June 25, 1993, I had a Cardiac Arrest at Illinois Wesleyan band camp. I recall having two syncope episodes during the week and by Friday of camp week I felt sick enough to ask to see a nurse. Finding nothing to be concerned about, the nurse sent me back to sessions. I called my mom during my lunch break and she told me to skip lunch and take a nap in my room instead. As per usual, I ignored her suggestion and went to the cafeteria instead. This decision may have been one of many decisions that led to my survival. I recall holding my tray, leaning against the wall, and passing out in the cafeteria in front of all of my friends and counselors. Thankfully my sister, who was also at camp with me, had just left the cafeteria. I recall my most favorite counselor was slapping my face and yelling at me to wake up. Being mad at her for hitting me, I wanted to wake up and tell her to stop. But I couldn’t.

I remember not being able to breathe. I slipped into a dream state where I was under water, looking up at the top of the water line in the 5 foot section of the public pool in my hometown. I saw the sun shining down on me and the lifeguard stand slightly to my left. Then I heard a voice tell me to take his hand because it was not my time yet. That is the last thing I remember until waking up one week later in the ICU at Cardinal Glennon Children’s Hospital in St. Louis, Missouri.

While I was dreaming, and essentially dying, CPR was started and 911 was called. I learned later that the paramedics who arrived originally thought a camper had passed out due to heat. They started running up the stairs of the building when one of the paramedics decided to turn around and grab the AED, which they had been trained to use only nine days before my cardiac arrest. I was their first patient since AEDs started to become common on ambulances. Another split decision that played a key role in my survival story.

I was transported by ambulance to the area hospital and immediately diagnosed with Long QT Syndrome. From what I have learned, my EKG showed evidence of a prolonged QT interval a novice medical professional should have seen. Being too unstable for the hospital I had been transferred to, I was flown to St. Louis with specialists and where Dilantin was found to stabilize my heart.

When I woke up from my induced coma, a week had passed. After processing the time lapse, I realized that I had missed my band camp concert and a whole new camp had come and nearly finished. This self proclaimed band nerd cried knowing that I would never get to perform that concert. Maybe it was just easier to cry over that than to accept the knowledge that my life had changed. Or maybe I didn’t really understand the severity of the situation. For my young brain, there was just too much to process and crying over a missed band concert was what made sense to me in the moment.

In a matter of three weeks, I had earned the principal flute position at band camp, had a cardiac arrest, slept for a week straight, woke up kicking a pregnant nurse (induced coma drug reaction), underwent my very first surgery, and my door prize was a brand new ICD implanted in my abdomen. Those Walkman sized ICDs are no joke! That was the worst summer break ever!

This June will mark 30 years since my cardiac arrest and I am still in disbelief that this is part of my story to tell. But I am thankful that I am here to tell this story.

“SADS conditions do not define who you are, nor should they define who you should or should not be. It may redirect your plan a little, but I’d like to think that this redirection of the plan is what’s meant to be.”

What has been the biggest challenge you’ve faced living with a SADS condition?
I have experienced anxiety and depression all based on the reality of having to live with Long QT and the impacted defibrillator. I hate the word defibrillator! My mind knows it will save my life, but I hate it so much. I touch the bulge in my chest where it is now implanted and still can’t believe I can’t live without it.

Because of my anxiety, which has gotten incredibly better over the years, I have missed out on experiences and trips. I wanted to travel with my college band, but anxiety kept me back. I have wanted to join community bands, but anxiety had other ideas. I have felt guilty about my anxiety and how it may have held my husband back.

My life suddenly stops when I need surgery to replace the ICD. And I’ve had more device replacements than the typical patient. From broken wires to a recalled device after only 14 months to fluid leaking into the device. My life literally has to stop because of my heart.

What encouragement or advice would you give someone who has just been diagnosed with a SADS condition?
I like this question because as depressing as my answer to the previous question may be, these feelings no longer rule my life. I would encourage those who have recently been diagnosed with a SADS condition to find support from others with similar experiences and ask all of their questions. I wish I had received support from others with SADS conditions when I was diagnosed, but it wasn’t until about five years after my diagnosis that I learned there were actually other people ‘out there’ who knew exactly what I was feeling. Another life saver for me!

SADS conditions do not define who you are, nor should they define who you should or should not be. It may redirect your plan a little, but I’d like to think that this redirection of the plan is what’s meant to be. And it’s OK to be angry about the condition, to hate it, and to despise it. But since there isn’t anything we can do to take it away, work to find a way to make the best of the situation.

When I was teaching, I had to have surgery during the middle of the school year. Trying not to overshare with my students why I would be out for a couple days, one class pestered me enough to get an answer. Telling them in 3rd grade language what I was going to be doing, I had a little boy who came back to my room after he left and seriously asked if I was a cyborg. You can’t get a response better than that! You just gotta have a little fun.

What would you like other people to know about your condition?
I lost friends in high school because they were afraid to be around me. Like I would die at any moment and they didn’t want to be around to witness it. I have met people since then who have chosen not to be around me because of it. I want people to know that Long QT Syndrome, when treated correctly, is not a ticking time bomb. I am just like anyone else who, on occasion, may not feel well. My specific condition also means that I should not be startled. My neighbors know to text me when they are coming over because my doorbell is turned off. They know why and don’t question it. If I am not playing a contact sport, it’s not that I don’t want to play but it’s because I shouldn’t. So if someone isn’t playing a sport, don’t press for details. I do get sad when I have to watch and not participate.

Overall, Long QT is a serious condition and should be treated with respect.

“There is hope. Trust your doctors, but trust your gut as well. If something seems off, speak up.”

Melissa

SADS Condition: Wolff- Parkinson White Syndrome

I was not diagnosed until 2016 at the age of 25. And it’s it’s a little bit strange on how I was diagnosed because my symptoms didn’t start then my symptoms started at a very young age. I would have SVT runs pretty much daily. But at the young kid, I actually learned that if I would hold my breath and bear down that my heart wouldn’t beat that way anymore. It would go back to normal. And so I just casually did that everyday as a kid managed it myself, but I also never brought it up to my parents. And so they didn’t know. I did grow up playing sports. So I was very active in a lot of different sports and I did have SVT runs as I was playing. So again, I just learned that I could bear down a certain way and get my heart to go back into sinus rhythm.

Well in 2016 when I did get my diagnosis it was because I woke up from sleeping and my heart was going so, so fast. I couldn’t couldn’t breathe very well and felt like I was going to pass out. Holding my breath and bearing down just didn’t work anymore. So I figured I definitely needed to take a trip to the ER.

I was driven to the ER as soon as possible. It was just a little, tiny ER like 24-hour emergency room down the street. They were able to get my SVT – thankfully on an EKG. My heart rate was going over 200 beats per minute. It it did resolve on its own in the hospital. However, it started right back up and required me to have a cardioversion via adenosine.

Adenosine is an important life saving medication, but it is a horrible medication to have to take. The cardioversion in my case did not work. I was transported to a larger Hospital but didn’t have any runs of SVT. I was of course sent to do follow-ups and had referrals for cardiologists and EPS. So I went through all of that and got an echocardiogram on my heart. Structurally, everything was normal other than the extra pathway that I have which was found during an EP study. So the extra electrical pathway on my heart is on the left side.

So I was given a diagnosis through an EP study of Wolff Parkinson White syndrome. Of course, it can be pretty scary to have this diagnosis. Although I’ve had the SVT fixed through cardiac ablation, I’ve luckily been symptom free since then. I actually ran a half marathon last year in January with my cardiologist’s approval.

I’m wanting to spread awareness especially after the NFL’s event that recently played out on everyone’s TV. I feel it’s so important to let everyone know that this is exactly how you handle a cardiac arrest in my case to be very honest. I’m very fearful sometimes that if I am out and about in public and something like that happens to me, I’m afraid that nobody would help me. So I think it’s very important to spread awareness.

I’m now 31 now and I’m doing great. Even though WPW can be fixed through an ablation, there’s always a chance that it could come back and it does get worse with age. I’m just doing my best to stay in care.

Fiauna

SADS Condition: ARVC

How and when were you diagnosed?
In October of 2021 I went into V-tach during a regular workout. After 2 hours I was taken to the ER where I was cardioverted. My heart rate was 230-240 and climbing. A few weeks later I had an endocardia’s ablation where irregularities in my right ventricle were found. An MRI just days later confirmed the ARVC diagnosis. One month later I had an ICD implanted. Six months later I was listed for a heart transplant. I have now been waiting for transplant as a status 6 for 6 months.

What has been the biggest challenge you’ve faced living with a SADS condition?
I was a fitness instructor for the better part of a decade before my diagnosis. Exercise was my job, my social life, and my best way to let off steam. It’s been so difficult giving all of that up. I was proud of being fit and healthy, and now I need a heart transplant.

What encouragement or advice would you give someone who has just been diagnosed with a SADS condition?
There is hope. Trust your doctors, but trust your gut as well. If something seems off, speak up.

What would you like other people to know about your condition?
Just because someone looks fit and healthy doesn’t mean they are. Be patient; you never know what battle someone is fighting.

Felicia

SADS Condition: Long QT Syndrome

At the age of 62, I was healthy. No hypertension, no abnormal lab results, no major illnesses. Only a possible slight mitral valve prolapse, and allergies to cats and dogs so I had been receiving allergy desensitization shots for about 25 years. No incidents of dizziness or passing out. I had annual wellness appointments with my physicians and had annual lab work including CBCs, Comprehensive Metabolic Panels, and Lipid Panels; they were all normal. I work in the medical field, first as an RN at the bedside, then in hospital finance, and now as a Medical Auditor at the local hospital.

One day, after lunch, as I was walking from my car into the office building, I passed a physical therapy patient leaving the office building, and we smiled at each other. Immediately after that, with no warning, I collapsed. He heard me collapse and ran inside to get the physical therapy staff to help me. My heart had stopped, and they started CPR. Fortunately there was an AED (automated external defibrillator) in the building, and someone knew how to use it. Paramedics were called, they continued CPR and transported me to the local hospital Emergency Department about one mile away. They also had to defibrillate me there as well when my heart stopped. I was placed on sedation, intubated and placed on a ventilator. Due to the possibility of low oxygen levels after I had the cardiac arrest, which may have caused anoxic brain damage, the physicians lowered my temperature and kept me sedated while they assessed my condition.

Four days later, after a CT scan showed there wasn’t any acute intracranial hemorrhage or mass effect, they started to wean me off sedation and remote the endotracheal tube. However, due to presence of lung opacities in the Chest X-ray, they intubated me again, kept me on a ventilator, and administered antibiotics to treat the pneumonia.
Finally, 12 days after my cardiac arrest, the endotracheal tube was removed, I was taken off the ventilator and the sedation was discontinued. The first note I wrote was, “What happened?” I had no memory of passing out or anything after that. Then, 3 days after the endotracheal tube was removed, I had an AICD implanted (automated implanted cardioverter defibrillator). The next day I was discharged from the acute care hospital and transferred to another hospital that had intense physical rehab. I stayed there 9 days before being discharged home, where I continued outpatient physical therapy, speech therapy, and occupational therapy.

During my occupational therapy assessment, they performed a typing test. When I typed 40 words per minute with 95% accuracy, the therapist said, “I type only 30 words per minute with 80% accuracy; we don’t need to see you for any other therapy!”

“Make sure you let everyone in your family know about your SADS condition, even half-sibling relatives, so they can research if they’ve inherited this condition.”

The speech therapist (who also tested my memory), asked that I memorize the names of the first 7 presidents of the U.S. Now whenever I see her, I start trying to recall the presidents’ names…

During my first follow-up appointment with the Cardiologist who implanted my AICD, my first question was, “Can I still ride roller coasters?” My husband said, “You just had a cardiac arrest 2 months ago that almost killed you, had the AICD implanted a month ago, and that’s the most urgent question you have??”

In my next Christmas letter to my family, I explained that with no cardiac history, no high blood pressure, no high lipid levels, no pre-existing conditions, I had a cardiac arrest for no apparent reason. After receiving my Christmas letter, I heard from a family member who said they also had a cardiac arrest, in their early 20’s! Their Cardiologist thought it might have been caused by “Long QT Syndrome”, but they weren’t able to get a DNA test performed to verify it. Congenital “Long QT Syndrome” is a somewhat rare genetic condition that affects one in about every 2,500 people.

After learning this, I had my DNA tested, and the result came back positive for Long QT Syndrome. It appears to be present on my paternal grandfather’s branch of the family tree (heart conditions are present on their death certificates). After receiving my positive DNA result, I spent the subsequent weekend on the Ancestry website, sending messages to everyone on that branch of the tree, alerting them about this rare genetic condition which may be present in their family. It’s comforting to know the true reason for my Cardiac Arrest…

Genealogy has been my main hobby for the last 35 years. Due to this rare Long QT Syndrome genetic condition, when I retire in a couple years, I want to learn how best to post medical conditions on your public family tree on Ancestry and other family tree websites, so that others in your family can learn about medical conditions that can possibly affect their health.

Encouragement or advice would I give someone who has just been diagnosed with a SADS condition:

(1) make sure you let everyone in your family know about your SADS condition, even half-sibling relatives, so they can research if they’ve inherited this condition,
(2) ensure you have a living trust established, a medical power of attorney signed, and if you’re the person responsible for paying bills in the household, that someone else knows how to pay household bills if you’re debilitated,
(3) don’t let the diagnosis rule your life – there’s no reason you still can’t achieve the goals and objectives you have on your life list.

Julianna

SADS Condition: Long QT Syndrome

How and when were you diagnosed? 

I was diagnosed in April 2019 after collapsing at work in front of eight toddlers due to working in a daycare. I was working there since October of 2015 and only noticed that I would get really tired and out of breath beginning the summer after I started working there. I woke up April 10th, 2019, like any other day where I got a coffee, had breakfast, and went into work at 7:45am. Around 10:30am I fell to the floor and went into Ventricular Fibrillation. People heard me fall and ran into the room to begin CPR and called 911 where the ambulance brought an AED to shock me, until I would hopefully be stable enough to get to the hospital. I made it to the hospital where I went into V-Fib again and was sent directly to the Cardiac ICU. They cooled me for a day or two and one of the nurses tried to get some saliva from my mouth when I was still mostly under and it sent me right into V-fib. The doctors had to bring me back multiple times until they put me fully under and got me on meds. I woke up a couple days later already medicated and was moving around fine like nothing had happened. I was in the Cardiac ICU for six days total and a regular room for one day. My mom was my biggest support making sure I was being treated because when they had to bring me back multiple times she watched it 2-3 times in a row. I now take meds three times daily and have an S-ICD in my side.

What has been the biggest challenge you’ve faced living with a SADS condition?

I have found that figuring out what doctors are knowledgeable about what I can or should not have has been rough because you initially feel like there is no one to talk to after being diagnosed and leaving the hospital even if you have so many people there to support you. I felt so confused after my diagnosis for probably the first year but then it did get better.

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

There are so many of us out there you are not alone. A lot of doctors are only starting to hear about and learn about SADS and the conditions that we have so you need to be your own advocate.

What would you like other people to know about your condition?

I live a healthy and happy life even though I was diagnosed at 21 and can still enjoy everything as long as I am properly medicated. IT IS NOT A DEATH SENTENCE!

I received my S-ICD because of how young I was. The doctors felt like it would be better for me than having something being put into my heart due to not needing to be paced. Always listen to what your doctor has to say and give them time to get to know you and your situation because they understand what you are going through. I had my Cardiac arrest six months and nine days before I was supposed to get married and we were able to get married on time and have not had any issues since I was in the hospital. This picture is from April 2022 a little more than 3 years after my diagnosis.