This Heart Month, volunteer Sandy Cowin made a huge impact through sharing her story with her local news station, Spectrum News 1, which broadcast her story and the SADS warning signs across the state of New York, and writing an article for her Employee Assistance Program newsletter, which was distributed across the State University of New York System Offices.

“I’m starting to get comfortable with sharing my story,” she says. “I’m happy to finally start contributing to awareness in my community and now I don’t want to stop!”

Her father passed away suddenly from cardiac arrest in 2009 as a result of Brugada Syndrome at the age of 65. “As anyone who loses someone suddenly knows, it’s really shocking,” she says. “He led a very healthy and active life until he died suddenly and unexpectedly, although there were warning signs for many years, including fainting during a fever.”

Sandy and her siblings were then tested for Brugada Syndrome, but their initial test came back inconclusive. Seven years later, Sandy retested as part of a clinical trial at NYU Langone Health and tested positive through a flecainide infusion.  

Her son, Jackson, a high school senior, is closely monitored as well. He’s an active runner who participates in both cross-country and track. “We are under the care of great doctors and have no restrictions on physical activity,” she says. “There are many preventative measures we can take to limit the chance of a cardiac event.”

Sandy wants to spread awareness of the warning signs – to make sure that people get proper treatment and get diagnosed early. “Don’t put symptoms aside,” she says, “because sometimes the first sign could be a cardiac arrest. I am very thankful for my diagnosis so that we get the treatment to ensure a long and healthy life.”

If you’re interested in becoming a media volunteer like Sandy, click here to get started.

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.

Hello.  My name is Mason Inman. I am 12.  On March 18^th, 2019 while attending school, I collapsed walking the track.  I came through they tell me after about 3 minutes.  I was taken to hospital by ambulance with my father.  I was then sent to Randalls Children hospital in Portland Oregon.  Upon further testing I was diagnosed with a heart condition called LQTS.  Long QT Syndrome.  My doctor  Marc D Le Gras at Pediatric Cardiology has helped me understand my condition. He has me on Beta Blockers called Nadolol.  I was a very active kid.  I love sports, especially basketball.  It has been almost a year and I am finally hoping this next checkup and can get back on the court with my teammates.  I was not able to try out for my middle school this year and that was very hard for me.  My fingers are crossed that I will not have any more attacks and have been lucky that was the only one for me. 

Hello. I am Masons father Steve.  Mason has not really talked much about his condition and feels embarrassed about it when I mention it or bring it up.  It is getting a little better over time. I feel this has been harder on me than him.  I feel awful about his sports.  I have been his coach on the team for last 7 years.  Some of his friends on the team have even quit since mason is not participating.  One good thing about this is that I have talked with his team, the gym, and even his school to bring awareness about LQTS.  A local foundation called Quinn Driscoll Foundation puts on or supports a free screening for heart conditions here in Vancouver Washington at the local hospital.  When this happened the first night in hospital I researched everything that I could and I found SADS.  When I went to see his cardiologist he suggested you guys to me and he was very impressed that I already knew who you were.  I have enjoyed following some of your articles and seeing that life does go on and reading stories of others.  I want to express how lucky I am that my son survived and I feel for the families who aren’t so fortunate.  All I ask is to keep spreading the word to get screened and hopefully it will save someone else life. 

Name: Heather Darling

Age: 33

Which SADS condition do you have? Long QT Syndrome Type 2

When were you diagnosed? A little over 20 years ago

How are you treated? Beta blockers and ICD

How/when were you diagnosed?

One morning in fifth grade my mom was cutting my bangs before school (we’ve all been there, right?) and I kept pulling my head away from her. She thought I was just being a sassy preteen, so she carried on until, ultimately, I collapsed. This was the first time this had happened, so we basically chalked it up as a mere dizzy spell. My mother is an RN and was working in the Cardiology department at the time. She was working at an outreach clinic one day and it was one of those “take your kid to work” days so I had tagged along. Sine we are in a rural area it wasn’t too busy of a day so they decided they would show me how an EKG worked and hooked me up to the machine. After looking at the reading, the Cardiologist shrugged a little and mentioned that the QT Interval was a bit long and would possibly be something to keep an eye on.

Later that year my mom was attending a conference and syncopal episodes and sudden death occurrences was a main topic of discussion. This piqued my mother’s curiosity, so she decided to raise her hand and share my story with the speaker. It was at that time that she was told it was probably be best that I see a Pediatric Cardiologist as soon as possible. Appointments were scheduled and there I was meeting Dr. Mike Ackerman at Mayo Clinic for the first time. I was diagnosed with Prolonged QT Syndrome which was later further identified as Type 2 with genetic testing.

On Friday, February 14^th, I underwent placement of a Subcutaneous Implantable Cardioverter Defibrillator. Unlike a traditional defibrillator, this is placed under the skin under the left armpit and a lead is tunneled into the breastbone and up to the center of the chest. No leads or wires are ever placed into the heart itself. Surgery went according to plan and I feel fantastic! Sure, I have some minimal adjustments to make to my daily life, but it was the right call to make and I am glad I did it.

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

The biggest challenge I have faced in all of this was accepting the fact that I had something going on that could potentially kill me. As an 11/12-year-old kid, that is a large pill to swallow. I went through periods where I was terrified that I really was just going to lose consciousness and never regain it. I also went through times that I thought I could make any choices I wanted without issue because I had my medication.

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

There is also a positive to having the LQTS diagnosis and being one of the early patients. I see the speeches given and articles written by Dr. Ackerman and I know that I really did play a part, albeit small, in all the research and advancement in the study of LQTS and other SADS conditions. The Cardiologist I see now and the Cardiologist that my son sees both recognized his name immediately because he has done so much for the SADS community and the providers that care for us.

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

If you are diagnosed with LQTS I would highly recommend that you stay positive. While it is something that does require some alterations and careful monitoring, it is not and end-all to leading a very full life. Listen to your body and listen to your provider. Therapies have come so far since I was diagnosed, and I think I probably could have had a better course of action in my own treatment had I continued regularly seeing a Cardiologist throughout my twenties.

How has the SADS Foundation been helpful to you?

I am thankful to have found the SADS Foundation because it has given me the tools to be sure I am making heart-conscious choices and even to make sure my son’s school is prepared to handle his condition. I am looking forward to attending my first conference in Houston in November with my mother and my son! The SADS foundation is a fantastic resource for research, advocacy and for connecting with others living with SADS conditions.

Age: 53

Which SADS condition do you have? Long QT Syndrome

How are you treated? Beta Blockers & ICD

How/when were you diagnosed?

It all started when my husband woke during the night & found me not breathing. He resuscitated me, called an ambulance & I was transferred to Casino Hospital, then onto Lismore Base Hospital. After being resuscitated about 13 times & stabilized, I was flown by the Westpac Rescue Helicopter to Brisbane.

I originally had a pacing wire inserted after I arrested at Prince Charles Hospital (the doctors were talking about heart transplant as they were unsure of why this was happening), but this helped regulate my heartbeat, I then had a pacemaker implanted soon after. It took nearly a month to diagnose at the time & apparently I was one of only about 5 known cases. Since then I have had a second pacemaker & am now on my second defibrillator. 

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

After finding an article in a Sunday paper years ago that mentioned my condition & mentioned Professor Chris Semsarian at RPA who specializes in this disease, I met with him and he has been a godsend to me answering any questions I may have about Long QT Syndrome. he also organized genetic testing for me. The results of which confirmed a faulty gene, which my eldest daughter has also inherited. I have since found out also that my Dad’s brother has also been diagnosed. It took me a long while but with support of family & counseling I was able to sleep again, it was hard to fall asleep as I was scared it would happen again.

What are your favorite hobbies and activities?

I play lawn bowls, do crafts & spend time with family & babysit our 3 granddaughters. We spend a lot of time traveling & enjoying life.

I am so very grateful to everyone who has helped me to survive & live with Long QT Syndrome.

Name: Kristin Ristine

 Age: 34 

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

How are you treated? On beta blockers 

How/when were you diagnosed?

My mom was diagnosed while at the hospital for unrelated issues. They found she had a gene mutation, so I was tested. We are thankful it was caught when it was, so we could have family tested and treated. 

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

Though we are on beta blockers, having a child with LQTS still concerns me. I have found it hard to walk a line between being too careful and letting her live a normal childhood.

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

The original diagnosis has allowed my family to be tested and protect ourselves.

Will was 6 years old when he first experienced a fainting episode. He was walking up the hill with his dad & sister one day from school when he fainted. We couldn’t tell if the kids were making it up & playing a joke on dad while I was at work. The next morning he fainted again. I work for a private practice as a Nurse. Will’s general practitioner (GP) wasn’t taking chances, so I collected him for a cardiograph. She sent it away for formal interpretation.

Monday morning I walked in to work my shift and the doctor called me in to tell me this was serious. The results came back as Brugada Syndrome and the doctor explained how dangerous this could be for Will. The drive back to tell my family and pick up Will to take him to emergency was spent fighting back tears. We waited all day for the cardiograph to be reported on by a specialist at another hospital. Nope. The doctor told us it was alright to go home since the specialist said it was okay. My gut feeling wasn’t good. At work I told Will’s GP I wasn’t feeling confident and she agreed. She referred us to a specialist at Westmead Children’s Hospital. We were all sent for cardiographs.

I had been a Cardiac Nurse for many years; unfortunately I knew what I was looking for on the cardiographs that were handed to me to walk back to the specialist. I felt sick. He promptly informed us William had Brugada Syndrome and so did I! He then referred us to the appropriate specialist to deal with this. Whilst waiting Will developed a fever. We had been told this could cause a fatal heart rhythm in Brugada patients.We were transferred to Westmead hospital via ambulance. During a 2-3 week stay, Will had a myriad of tests & consults. We both have loop recorders now monitoring us remotely. I began informing family about the rate of passing it on, which was 50%. My nephew, now diagnosed, is 14. We don’t know if our other 2 children have this.

Our biggest struggle was educating others, as nobody knew what this was! Not even the doctors and nurses we came across. We had to convince Will’s school to fundraise for a defibrillator because there was no other assistance. We had to approach the education department because the school struggled to understand just how important a defibrillator was in saving our son’s life. Not friends nor family. We then raised $2,500 to buy our own defibrillator so we could at least feel safe.

Each year we have a new teacher to explain what Brugada Syndrome is, and they typically look at me horrified. The play dates & sleepovers he misses because the parents are reluctant. We are understanding and every day is a challenge, but we try to stay positive never knowing what our future holds. We stand on the sidelines hoping all will be ok so he can play soccer in the plight to help him feel normal. The loop recorder makes him feel “different;” he struggles & will see a psychologist next week. We know we are luckier than many with this condition.

Please share in the hope for a cure! We love our Will & we hope for a future with all our wonderful children.

Name: Bella Alvarez
Age: 11
Which SADS condition do you have? CPVT
When were you diagnosed? December 2018
How are you treated? Beta Blocker (Metoprolol)

How/when were you diagnosed?

I was diagnosed through genetic testing after my Father was diagnosed with CPVT and I lost my Aunt and Uncle at 15 and 16 years of age due to the undiagnosed CPVT.

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

The biggest challenge was taking medication and getting used to my Mom never leaving a cheer practice.

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

I am able to share my experience with others and teach others about the benefits of learning CPR/AED

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

Don’t be scared, at first you will feel bad but then you will learn to be ok.

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

I started middle school this year and go to cheer practice three times a week for three hours each day, take my heart medicine every night at 9

What are your favorite hobbies and activities?

I love to dance with my friends and I love to fly in cheer

How has the SADS Foundation been helpful to you?

SADS foundation made me feel better about being different and reminds me I am not alone there are others just like me!