How did you get involved with the SADS Foundation?

I was at the University of Colorado in late 1999, finishing my residency in internal medicine. In my third year, I was a genetics and cell biology major. I designed a rotation where I could go out to genetic clinics – including one that was studying what we called, at the time, ARVD (now known as ARVC). We were trying to refine the locus – it was locus number three of the ARVD locus on chromosome 14. I was trying to find the gene that the disease was linked to in families with this condition. During this time, I heard about the SADS Foundation – but I actually knew about Dr. Michael Vincent before that, when I was at the University of Minnesota in medical school.

I did an elective in medical genetics at Mayo Clinic during medical school, and saw a lot of patients with SADS conditions. At that time, I was planning to go into a pediatrics residency, but after that rotation in medical genetics at Mayo, I decided to focus on genetics in adults. I heard of Dr. Vincent, and read his articles, during that time. I also met him at the American College of Physicians, and he was so passionate about researching these diseases.

In my very last rotation of medical school, I worked with a cardiologist named Dr. Naip Tuna at Regions Hospital in St. Paul. He started me collecting electrocardiograms, including one of Brugada Syndrome. Dr. Tuna would say, “Carl, if you do not think of the condition, you will not diagnose the condition.” If you don’t know about conditions like SADS, and don’t have the curiosity to learn, you won’t be able to identify these rare conditions.

The first SADS conference I attended was the second national conference in Atlanta, and I went to the conferences in Salt Lake and Chicago too. I’ve always had an interest in these genetic heart conditions, despite being a general primary care internist, because of those research projects in ARVC and my time with Dr. Tuna.

How, and why, did you get involved in advocacy work?

Because of my genetics background, I’m interested in rare diseases in general. These past two years, I’ve been doing advocacy with SADS and the EveryLife Foundation for Rare Diseases. The two legislative “asks” I’ve focused on are the Access to Genetic Counselor Services Act, as well as telehealth expansion (which is important not only to rare disease patients, but also to patients who live in rural areas). I’ve also done advocacy day with the American College of Physicians.

We often think of rare diseases as very uncommon, but when you add all those rare conditions together, 1 out of 10 Americans have a rare condition. Collectively, they’re very common.

What advice would you give to someone who’s interested in doing advocacy volunteering?

Groups like the EveryLife Foundation help prepare you in the week leading up to the advocacy day. The preparation doesn’t take a lot of time or effort, especially now that everything is digital – they’re on Zoom, and you can do them very quickly. And if you can’t attend, you can always watch afterwards.

And all advocacy is not on a national level. I’m interested in community education and local advocacy, too. Even if you’re not interested in the political side of things, you can also be an advocate through approaching your local media and getting in the paper, or advocating on social media. If you want to do advocacy at a national level, I would recommend getting a little bit of training – it helps you refine your elevator pitch.

When you do Rare Disease Day, there will be lots of people with lots of different diseases asking for legislative support. It’s important to learn how to tell your story quickly, since you don’t have a lot of time.

Are you interested in becoming a SADS Advocate? You can sign up here.

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

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

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

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

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

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

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

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

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

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

How has the Mayo Clinic team helped your family?

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

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

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

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

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

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

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

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

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

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

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

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

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

In utero, our doctors thought that my daughter Madison had heart block, and I was sent to a specialist.

They confirmed that it was not a heart block – she just had a low heart rate. When Madison was delivered, we decided to go with a pediatrician cardiology specialist. He did an EKG and an echo. She had some periods of apnea. So he sent her home on a monitor, so if her heart stopped beating or she stopped breathing for any length of time, the alarm would go off. Before we could even leave the hospital, my husband and my parents had to be trained in CPR, just in case she stopped breathing.

At the age of six, Madison was playing soccer on a hot and humid day. It was always in the back of my mind that something might be wrong with her heart. And as a nurse, you just always think about this kind of thing. She came over to me and said, my chest hurts. So I held her and felt her heart, and I could feel a dysrhythmia. That was on a Wednesday. On Friday, we had a movie night, and Madison curled up in my lap. I had my hands over her chest, and her heart was fine. And then all of a sudden, I felt another dysrhythmia. So I called the pediatrician on Monday, and he said, get her to the office as soon as possible. He did an EKG, and then sent her over to the hospital for a chest X ray and an echocardiogram. And he said, Mandi, I think Madison has Long QT Syndrome. We need to get her to a electrophysiologist.

The EP said her numbers weren’t that high, and that she didn’t have LQTS, and didn’t need any sports restrictions. We followed up with her pediatrician every year for physicals. He did an EKG on her again, and he said, Mandi, I’m just going to tell you if this was my daughter, I would have her on medication. So we set up another appointment with her EP, and it was almost like a divine intervention, because the doctor that we were supposed to see had an emergency, so we went in and we saw his partner. And it was a whole different scenario. He did the EKG and a stress test, and decided she did have LQTS. He gave us a script for genetic testing, Propranolol, and an AED. He told us she couldn’t play sports. At that time – in 2008 – we reached out to the SADS Foundation about genetic testing, and they said insurance didn’t cover it.

What challenges did you face after diagnosis?

I’m a mom on a mission, and it was important for me, as a parent, that children be able to get tested under insurance. So I went in front of Florida legislation to ask why genetic testing wasn’t approved. Now, Blue Cross Blue Shield – who we had at the time – will pay for genetic testing. Then my mission became AEDs. I went in front of legislation and tried to get that approved as well. While that wasn’t as successful as the approval for genetic testing, I did get an AED in the schools Madison attended.

Madison had a cardiac arrest while playing in the front yard at the age of 10. That’s when she got an ICD. But for two years, everywhere Madison went, we carried an AED. It had to be within three minutes of her classroom. I would make sure that the teachers knew how to operate it, what it sounds like, where to put the pads. Every year, I would offer to train her teachers. We opted for Madison not to participate in PE. A few years later, we changed physicians to one recommended by the SADS Foundation. Since she hadn’t had an event, she could participate in non-contact sports. Madison ended up trying out for cheerleading, and she did volleyball at the church.

What advice would you give to other parents who are sending their children to school for the first time?

In the summer, I would write a letter to the principal letting them know that Madison would be coming to them. And I outlined what she would need. Be an advocate for your child – because out of every student population, there are several with medical conditions, and you want there to be a plan in place.

I’d offer to teach up to 10 people CPR for free. The more people that were trained in CPR, the more people that were able to save Madison’s life. I’d tell them about other considerations – that if she became lightheaded or experienced chest pain or shortness of breath with any kind of exercise, that she should be allowed to sit down and be observed by the school nurse. I mentioned that the school should have at least one AED that should be no more than three minutes away from any part of the school and grounds. And then I put that Madison had an ICD and was on beta blockers, and the medications are quite protective, but do not prevent 100% of episodes. I put her activity restrictions  – that contact sports are prohibited, but Madison was allowed to try out for sports such as cheerleading, tennis, volleyball, and golf. I put that she needed to avoid medications that overly stimulate the heart or prolong the QT interval.

How has the SADS Foundation helped you and your family throughout your journey?

They’ve been very supportive of us on our journey. They’ve been very informative, and they have educated us in ways that are paramount to taking care of a child with an arrhythmia condition. I think their new webinars are just phenomenal. I feel indebted to SADS, and I continue to support their mission.

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

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

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

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

Contact Info:

IG: @brookespange 

Email: bk.spangenberg@gmail.com

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.

My daughter has CPVT.

My daughter, Lily, suffered sudden cardiac arrest while swimming in our pool on July 8, 2012. She went without oxygen for an estimated 11 minutes. Lily continues her recovery from the resulting anoxic brain injury.  She is now 16 years old.

Here is her story.

On July 8, 2012, many lives were forever changed. It was a typical summer Sunday. My girls were recently out of school (Lily finished 3rd grade and little sister Charlotte finished 1st grade) and summer was just getting started. Golf camps, surf camps, Vacation Bible School and an annual camping trip to Big Sur were approaching. Not to mention relaxing days at the beach and in our backyard pool with family and friends. Life was good.

My sister and her family came over for a belated birthday celebration for my brother-in-law. It was to be a day of splashing in the pool and grilling pizzas on the barbecue. It started off like any typical pool gathering. Lily and her older cousin were perfecting their jack-knife technique while jumping off the top of the pool waterfall. (Something she has done a thousand times). All eight of us were in and around the pool at the time of Lily’s last jump.  Auntie had her underwater case on her iPhone and caught everything on video, including the event.

Lily was showing us her spectacular jack knife dives, she’s lands on her back with arms holding on to her right knee, feet above the water. Lily was especially wired that day, with tremendous enthusiasm, taking her dives very seriously.

The next jump she landed on her back again, you can here my sister (on the video) asking if she’s OK, it looked like it would have hurt. Her head popped up out of the water and she smiled and said she was OK as she swam towards the edge of the pool.  Just a few strokes short of the edge, she froze and as she fell backward sinking into the pool. Something was wrong. We asked her cousin standing above her at the edge was she OK? He shrugged. Within seconds Jim flew in and pulled her out of the pool. I ran to them and after what I saw and the sounds coming from Lil. My first thought was that she was having a seizure.  I remember my brother-in-law yelling “CALL 9-1-1!, CALL 9-1-1!”

Lily’s uncle performed CPR but intermittently had to stop at the 9-1-1 operators request because she appeared to be intermittently breathing but she was motionless as her face began to turn blue. She seemed to take some breaths but we could barely find a pulse. Time stood still. It just didn’t seem real, it was all happening so fast.

By the time the paramedics arrived, several minutes had passed.  We knew the paramedics; Lily would always get her gold fireman stickers from the same guys as they shopped the local grocery store. Here they were now saving her life. After what appeared to be violent CPR, and double defibrillation shocks, Lily had a weakened pulse of 32.

Lily was rushed to the local hospital. There doctors frantically worked to keep her stable and get a CT scan. While Lily went for her CT scan Jim and I poked our heads in the waiting room to acknowledge Jim’s parents—that’s when we heard those two words I’ll never forget, “Code Blue, CAT Scan.” Lily had gone into cardiac arrest for the second time.  A security guard found us and escorted us to be with her. I called out her name, asking her not to leave us.  Seconds later, her heart rhythm was restored.  Quick scan revealed she did not suffer any blunt force trauma that we may not have witnessed when she entered the water. She was immediately taken up the road to the local children’s hospital where she would be in the best hands for acute critical care. The plan, pray she makes it through the night and stable enough for one more transport further up the road to the major children’s hospital, at the crack of dawn to avoid commuter traffic. She made the trip and was admitted to PICU where she remained in that room for an entire month.

After several heart studies, ICD surgery, MRI’s, countless EKGs and X-rays Lily moved to less critical care. But she returned to PICU for another 2 weeks after she experienced another cardiac arrest. We also learned the cause of her injury, she was diagnosed with CPVT. But after myself, my husband and other daughter we learned it was not hereditary but most likely a genetic mutation.

Now we were on borrowed time to find Lily’s next home away from home (the hospital and insurance was pushing us out to take Lily home). She moved to another children’s hospital where she was accepted into the rehab program. We remained there for 11 weeks. Unfortunately, Lily spent several of those weeks in and out of the PICU for a variety of issues. This time we knew we were not going to win the fight so we decided to make arrangements to bring her home. Lily had lost all mobility, major and fine motor skills, swallowing, eating, vision tracking — the doctors had no hope of her recovering. But when we looked into her eyes we knew she was there and we weren’t ever going to give up on her.

Since Lily’s been home she has continued to improve and progress. Her vision returned with normal tracking, she regained head control and trunk control, swallowing allowing her to enjoy pureed foods, movement of her limbs and enough on her right side to give you a slow high-five. She continues to amaze us all with her spirit and her physical progress. I can only speak for myself but life has changed in so many ways.  I’ve lost and gained. I’ve learned so much. I learned about the human body from doctors, nurses, therapists and specialists yet I’ve learned so much about human nature from strangers, family and friends. I’ve learned that it’s hard for some to deal with life altering events and extreme sadness. I understand but sometimes I also wonder why when we are the ones in the trenches. But I’m learning and I’m trying to be more understanding. How I see life with a new perspective. Not just experiencing such heartbreak but seeing the world from her eyes. Many people (especially children) don’t know how to talk to her because she’s in a wheelchair or think that she’s not mentally there because she isn’t talking back. I’ve had to learn the “system” and fight for services and education. How isolating our world has become and every day I search for something to break the monotony. How I feel solely responsible for her happiness. How hard Lily works and how she desperately strives to get better by doing hours and hours of therapy. How I’ve had become two different mothers; one for Lily and one for Charlotte. How it has challenged my husband and I. How sometimes I feel I can’t relate to anyone and the outside world most of the time. How lucky and thankful I am to be Lily’s Mom but at the same time this means that I hurt deeper than anyone.

But like my aunt always told me the pendulum swings both ways. There are those who have brought so much love and support to our family that I cannot find the words to express my gratitude. The posts and notes and prayers from all over the globe mean everything. We are so blessed with unbelievable family, friends, classmates and fellow parishioners who have been there for us through the years.  Lily has shown and taught me so much. She is my inspiration. She has been knocked down time and time again but she keeps getting back up and fights on. She has endured countless complications from being immobile. She has had a full spinal fusion, hip dislocation and hip surgeries, relentless spasticity issues, etc. But she’s shown me the goodness in people. I’m learning to let go and stop trying to control outcomes.. The practice of patience, everything happens in time. To live in the present; not the past or future. All we have is today, here and now. And I’m forever grateful that at this moment Lily is sitting next to me, laughing, smiling, and breathing.

Lily’s CPVT is managed with an implanted defibrillator and is on a couple different heart medications and  I’m happy to say she hasn’t had a heart event in nearly 7 years. She now attends a special ed program in a local high school, she’s able to attend 4 hours a day, 4 days a week. Before starting this last year all her instruction was at home. She uses an eye-tracking computer for communication. Lily has a very full life. We take her to the mountains for adaptive skiing, lots of beach time and walks along the beach, movies, boating and fishing, and just being outdoors. Lily is our miracle.

Lily’s journey can be found here: https://www.lilyneedham.com/

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: Jaclyn Kernion
Age: 38
Which SADS condition do you have? LQTS1
How are you treated? Treated with beta blockers from age 14 and AICD implant at age 24 (on my 4th device currently) 

When were you diagnosed?

I was CORRECTLY diagnosed after 9 yrs of fainting and multiple misdiagnosis at age 14. I had been dehydrated, too thin, middle child trying to get attention, having seizures,  anxiety attacks, etc. Meeting Dr. James Perry was probably the best thing that ever happened to me! It took 19 fainting episodes, one which required full CPR, to finally get the right diagnosis. I shudder to think that I might not have woken up from any one of those. I am lucky indeed! 

What has been the biggest challenge you’ve faced in living with your diagnosis?

The biggest issue I have had is learning to not let my anxiety get the best of me. I try to keep it in the back of my mind as a precaution but not let it run my life. This is still a daily struggle for me.  I also swore that since my genes mutated and this was not inherited that I would have it END with me! I was fortunate enough to not pass it on to my daughter. However, it was a very difficult decision to make to not have additional children and risk passing it on. It’s something that I still struggle with but understand was the right decision for me personally.

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

Having this has made me stronger than I thought I could be. For years I lived in constant fear that I would faint again at any moment since so many different things triggered it. I felt like I was a ticking time bomb and hesitated to enjoy life, waiting for something to happen. Now that I am controlled well on medications I’ve become much more in tune with my body and recognizing things that bother me vs. what I can handle. I do tend to err on the side of caution and not do things that could provoke me. Fainting is not fun and getting shocked is definitely not fun. I feel like I’ve gotten to the point where I I’m living my life the way I want to with no regrets but also doing it safely.

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

Being diagnosed may be hard to hear but it’s actually the start of the next step. LIVING with it once you know what you’re dealing with is so much easier. When I was diagnosed there was no Facebook and I was introduced to a few penpals that had very different stories than mine. They had the same condition but most were asymptomatic with little to no restrictions. Utilize the resources on the SADS website and reach out to others on social media platforms and groups! Feeling like you are not alone in this is priceless. Being able to compare stories and talk to people with it has been immeasurable for me and my experience with living with this. 

Side note, I am on my 4th device in 15 years. My leads have cracked several times and the actual device has migrated downwards in my chest resulting in them needing to be adjusted or replaced. I’m really looking forward to this current device lasting much longer!  Knowing that these can mean lifetime ‘maintenance’ but also be a blessing as a backup is tough but I know is the right thing for me. Even on medication my QT interval is generally in the mid-to-high 500 range. I was told once that the condition is very strong in me but that my heart is also very strong and fights back. I feel like I’ve been given now 20 chances and have woken up with each…but do not want to ever risk not having a backup. The devices have been a very emotional thing for me but definitely something I will continue with.

I am 27 years old and currently living with a SADS condition (Long QT Syndrome). I am always happy to share my story as it sheds light to the importance and necessity of bystander CPR along with the use of an AED.  

In 2007 I was 16 years old, running the mile at school when I suddenly collapsed. I was found without a pulse and while the odds of me surviving then were minimal (survival rates for out of hospital SCA in 2013 were 3%), I was extremely lucky and had peers and teachers that took action.  My teacher performed CPR, another called 911, and a student ran to get the AED.  Before the paramedics arrived my teachers and peers had performed basic life support, including an AED to restore my heart beat.

I was fitted for a pacemaker/ICD shortly after and now live healthy with medication and regular cardiologist visits. I’m eternally grateful for the people who took action on December 7^th, 2007 and I live with the daily reminder of the importance of knowing how to save a life.

I currently work for the American Heart Association on the Community Impact team and I use any and every chance I get to have our volunteers learn basic life support. That’s my way of paying it forward, showing my gratitude for this life, and for the ones who saved me.

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Name: Richard Lamphier
Location: Atlanta, GA  
Occupation: Program Manager Project S.A.V.E of Children’s Healthcare of Atlanta, an affiliate of Project ADAM

Why were you drawn to nursing as a career? 
I had a good friend who passed away. While he was in the hospital, he had 2 male nurses who encouraged me to be a nurse in his honor.

How long have you’ve been in nursing?
35 years. I joined Project S.A.V.E 6 years ago. Before that I worked in hospital cardiac ICU and cath lab.

What first got you interested in cardiac issues and prevention of sudden cardiac death?   
I had a team mate in high school who had a SCA. My coach did CPR on him and I will never forget the desperate look in his face when he was doing CPR. I want to try to make sure no one else has to go through that feeling of helplessness.

What are some of your recent projects and accomplishments?   
We recently passed the Sudden Cardiac Arrest Prevention Act in Georgia – Jeremy Nelson and Nick Blakely Sudden Cardiac Arrest Prevention Act (SB 60).  I’m a member of the Georgia High School Association’s (GHSA) Sports Medicine Advisory Committee. GHSA mandated that all high school coaches in Georgia are required to have CPR/AED training at least every 2 years. We have between 15,000-18,000 coaches in Georgia. The law went into effect July 1, 2019. I’ve been busy training coaches.

Can you tell us about a time when you were personally involved in a life saved?
Outside a hospital- one time in 35 years. It occurred at a health & wellness expo where Project S.A.V.E. had a table. Someone came to table and said “We need your help!” There was a toddler with complex medical condition and had no pulse, and had stopped breathing. I started CPR, with another nurse for 1- 2 minutes (with what seemed like hours!) and then I felt the child’s heart beat return under my hands.

Is there anything you are looking forward to? 
I’m looking forward to helping host the 2019 International SADS Foundation Conference in Atlanta. I’m also looking forward to the impact mandating CPR/AED training for coaches will have.

Is there anything you would like to say to fellow nurses about attending the SADS Conference in Atlanta? 
Some of these conditions are so rare in our pediatric population that it’s a great opportunity to learn about them. It’s important to recognize a SADS condition. Also a great opportunity to interact with patients and families to better understand what can be done in your schools and community. In addition to the healthcare provider program, the Family Conference will have continuing education hours for nurses.

What activities do you enjoy in your free time? 
Atlanta has some great things to do. I’m kind of a foodie. Atlanta has some great restaurants. I enjoy going to local sporting events, Atlanta Botanical Garden , and exploring all of what Georgia has to offer. We have the North Georgia Mountains with over 1,000 mapped waterfalls and the beaches of Southeast Georgia.  

What advice would you give to someone who is interested in getting involved with cardiac advocacy efforts to make their community safer? 
I think the best way to start getting involved with cardiac advocacy is to demonstrate the behavior you want to see in others. My wife and I both have AEDs in our cars, we donate AEDs to the community we live in and teach a lot of CPR/AED. We have a son-Deacon, 6- who knows the basic CPR steps: to call 9-1-1 and get an AED.

From here, I would recommend connecting with likeminded people, who are interested in advancing the awareness of cardiac issues. You could join us at www.choa.org/projectsave  for more information.

I think another great place to connect with is your state nursing association. I am currently the President of the Georgia Nurses Association.  We are always looking for speakers and causes for our members to get behind. I have a goal that all 140,000 nurses in Georgia would teach 5-10 people CPR/AED every year. That would be another ½ to 1 million people ready to respond in a cardiac emergency.

Another suggestion is to get to know your local elected officials- Mayor, city council person, school board member, State Senator and State Representative. Meet with them; let them know you are the content expert when it comes to cardiac issues, including awareness and preparedness.