Can you tell me a little bit about your family’s SADS journey – from diagnosis to where you are today?

Our journey starts with my husband’s daughter, who was having cardiac symptoms. The doctors didn’t know what was going on, so they did genetic testing, and found out she carried one of the mutations of Brugada Syndrome.

At that time, my husband and I had one son – Daniel – who was tiny, probably only four or five months old at the time. And we live in a really rural area – in Humboldt County, about two hours away from Oregon. We’re very isolated out here.

I got the phone call from my husband, and he said, Hey, we need to get Daniel checked out. He said his daughter was very sick, in the hospital, with a genetic condition. So we took Daniel to our local cardiologist, who looked at the EKG and echocardiogram and said everything looked fine. He said he’d send the EKG out to his colleague at UCSF – and after that, we got a phone call saying that we needed to bring Daniel to UCSF for further testing since his EKG did show up abnormal. They did more tests as well as genetic testing and sure enough, they said he did have the SCN5A Brugada Syndrome gene like his father.

At UCSF they did a family history and discovered there were people in my husband’s family who died very young and suddenly as well as others with heart issues. We’d never thought the deaths could be linked. They did genetic testing on Daniel, and he has the same Brugada mutation as his dad. They told my husband that it was very important for him to keep up with doctor’s appointments, but my husband was in denial at the time, felt healthy, and had no symptoms – he didn’t see the need, and was more focused on his daughter getting better like any parent’s focus would be.

About two years later, my husband’s daughter – Daniel’s half-sibling – passed away suddenly. That was a hard hit, and my husband lost trust in medical care, and got skeptical. But I really pushed to keep having Daniel seen. Every six months, I’d take Daniel to the same amazing doctor at UCSF. Daniel’s now 12 years old, going on 13. He sees the same doctor, is healthy, and has few restrictions.

A few years later, I was pregnant with Ruby. I knew we needed to think about whether she’d have Brugada Syndrome, so we started monitoring her while I was pregnant, and she started going to UCSF at the age of two months old; they did genetic testing, EKGs, and echocardiograms. Just like her brother, she also inherited the same gene mutation as her father.

Ruby is a happy and healthy girl, very lively, and loves to be in all sorts of activities and sports – she’s very social! We just have to be on top of it if she gets sick – like any other child with Brugada Syndrome, we really control her fevers. She gets febrile seizures if they’re too high.

I continue to monitor my kids, and check in with their doctor, and educate their school system. Education is so important, especially in our rural area – every time we see a doctor, or go to the ER, they think of Brugada Syndrome as something that only affects older people. My kids also each have their own AED, and their teachers know how to use it just in case.

My husband passed away at the end of December in 2018 of a Sudden Cardiac Arrest at 34 years old due to Brugada Syndrome. His death was a real eye-opener; he didn’t think anything would happen to him since he didn’t have symptoms, so he didn’t go to the doctor. So even if you feel okay with one of these conditions, it’s super important to do follow-ups with your doctor and follow the directions of the specialists.

How did you and Ruby get involved with the SADS Foundation?

I started searching for community platforms online where I could find others that have similar diagnosis like my children. I wanted to find others that understood what it’s like to have children living with Brugada Syndrome, as well as a place I can get the most up to date information. That’s how I came across the SADS Foundation.

I’m so glad that we found the Project Sunshine Rare Disease TelePlay program through the SADS Foundation. We don’t know anyone else in our rural area who has Brugada Syndrome, and it’s awesome for Ruby be able to connect with other kids who have rare conditions. Ruby really enjoys it. And she really looks forward to the different topics they have – like trivia – every month.

Ruby was selected to be featured at Project Sunshine’s annual gala video, and will join them in NYC this May to speak at their event.

What advice would you give to other parents who have recently had a child diagnosed with a SADS condition?

It’s important to remember that each child is different. Tune into what your child’s need are, ask as many questions as possible to your providers, and make sure you’re on top of making appointments. And I feel like knowing your family history is huge. Sometimes it’s a warning sign. You don’t always connect these things – like, oh, my auntie passed away at a young age, or someone else in the family suddenly passed away young too. We don’t question those things, we just think it’s part of life and these things happen, but sometimes you need to dig a little deeper. So getting to know your family health history is very important.

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.

Name: Justin Price

Age: 4 years old

Which SADS condition do you have?  Brugada Syndrome

When were you diagnosed? He was diagnosed one week after his first birthday (April 2016) after going into cardiac arrest at home.

How are you treated? He was treated with an ICD, propanol and cilostazol. He had an ablation August 2018.

How were you diagnosed?

Justin was diagnosed a week after turning 1. On his first birthday at his one year check up, the doctor heard a murmur and said it could be nothing. A week later I put him to bed and a few hours later he woke up screaming. His nose started to bleed for no reason, so we rushed him to our local ER with a heart rate of 303. They immediately transferred us to children’s hospital of Philadelphia, and based on his EKG, he showed full blown Brugada. It wasn’t until his genetic testing came back, did we find out he has four different mutations of Brugada Syndrome. With further genetic testing it also came back the whole family has Brugada. Yes that’s right, both mom and dad and his older sister.

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

His diagnosed ended up saving his family. Neither of us knew we carried this gene.

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

Our day to day life as first was crazy. We bounced back and forth from home to Children’s Hospital of Philadelphia (CHOP), living in slight fear from several cardiac arrest. Justin had an ablation in August 2018 which gave him the ability to be able to live the amazing life he has now. We are truly thankful for his team of doctors at CHOP.

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: Tenier Sims

Age: 43​

Which SADS condition do you have? Brugada Syndrome

When were you diagnosed? October 2018

How are you treated? Currently being monitored

How/when were you diagnosed?

I was diagnosed when I became so fatigued that I couldn’t walk, so I went to urgent care and from there I was told that I needed to go straight to the ER when they saw something on my EKG. From there I went to the ER and multiple test were ran and as I waited in the waiting area, an ER doctor came and said, “I believe you may have Brugada Syndrome.” I was later discharged and referred back to my Cardiologist and from looking at my EKG, it was clear and I was officially diagnosed by my Cardiologists on October 5, 2018.

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

The biggest challenge I face is becoming very fatigued at any given time. One minute I can be full of energy and the next second I’m so exhausted to the point I have to sit down for a while. I find my anxiety being high because in the beginning I was afraid to sleep because I didn’t think I was going to wake up.

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

One positive thing that came from this is that even with my diagnosis, I can live a long, healthy and prosperous life. Its not a death sentence because I choose to either beat the disease or let it beat me. I was born a fighter and I will never give up. My motto: I have Brugada but Brugada doesn’t and will never have me.

What are your favorite hobbies and activities?

Some of my favorite hobbies are spending time with my family, crafting, traveling and most importantly shopping.

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.

My name is Sissy. I was diagnosed with Brugada Syndrome at age 39. I am now 60 years old.
I will begin my story with my daddy.  My daddy was very healthy all through his youth. All that anyone could ever remember happening to him was that he had passed out during a parade he was in while he was a teenager.  They assumed he had just gotten too hot.

When he was 17, he joined the US AIR FORCE.  He married my mother at age 22 and my brother was born when he was 24. Then 2 years later I was born. At this time , Daddy was in his 9th year in the military and had become a Sergeant.

When I was 3 weeks old, my daddy—at age 26–died suddenly. No symptoms, no pain—he just sat down in his chair one afternoon and died. The military had 2 autopsies performed on him and both could only conclude he died from a sudden cardiac arrest. Please note that this was in 1959–long before anything was known about this sudden death disease—Brugada Syndrome.

And so now begins my story.

Growing up my family always talked to me about my daddy. It was very important to my Mother and grandparents that I knew all about Daddy—so I knew his life story by heart-never realizing at the time how vital this information would really be for my own health’s sake. As a young person I was very active and healthy.  But I remember at age 15 passing out and waking up in the ER. But after several tests I was told that I was just probably dehydrated—And also when I came to I felt okay.

As I look back there were about 3 other times as a teenager that I would have “spells” as I called them, where all of a sudden I would feel like I was going to black out—and then it seemed to just pass. I had no other symptoms to indicate anything was wrong.

I married at age 19 and then went on to have 2 children and lived a healthy life, hardly ever being sick.

Then at age 37, I begin to have episodes that I would almost black out —and always with the feeling that someone had pulled a plug and it felt as if the life was being drained out of me.  It was really scary. These episodes began happening frequently and for the next 2 years I went to doctor after doctor, with each one I was told that since I was so healthy it was probably not physical but probably just nerves. Note that I had never had any nerve problems.

But I knew something was wrong
However, after no real diagnosis after so long a time, and being treated like I was making it up, I just quit going to the doctor—even though I was scared I might die and no one would know why.

Then one night—when I was 39 I had another “spell” and as I felt like my  life was draining out of me—I really thought I wasn’t going to survive. My husband insisted that I go to the ER and told the Dr there something had to be done. This time, this doctor really listened and when he did an EKG —he said he didn’t know what it was but something didn’t look right to him and he admitted me to the hospital.

He contacted a cardiologist, that, by the grace of God, saw that something was very wrong. He even closed his office the next day so that he could do some extensive research when he looked at my medical records. This was in 1999–and Brugada Syndrome —had now been discovered. However, at this time very few knew about the disease. But this Doctor had read about Brugada Syndrome and he contacted another cardiologist that knew about this disease and knew exactly what to look for. (This became my doctor and he still is to this day)

Also, he was able to consult with Dr. Brugada, and after close review of my medical history and even obtaining and reviewing my daddy’s autopsy records, I was diagnosed with Brugada Syndrome and also told that since this disease is genetic—with the information they had, they were 99% Daddy had died from the same disease.

I received an ICD that day —at age 39–and I am still alive today.

Also, my 2 children and now 4 grandchildren are tested regularly.
So much more is now known about Brugada Syndrome—however so many are still not aware of it and of all the other sudden death diseases. We must all learn to be proactive with our health and the health of our children!!

I urge all that I can to pay attention to your body. You know when something’s isn’t right- so don’t let anyone make you feel like you are imagining what is going on. Don’t be afraid to speak up and insist that your doctor really listens to you—and if they don’t—then find another doctor that will ! Don’t be afraid to be tested. Help make others aware of these SUDDEN DEATH DISEASES! It is truly a matter of life and death!

Name: Dave Whelan
Age: 57
When was your SCA? Feb 10, 2012
Which SADS condition do you have? Brugada Syndrome
How are you treated?  ICD and regular cardiology follow up

Can you tell us about your SCA?     
My SCA occurred while working on a remote mine site in the Pilbara area of outback Western Australia. I was resuscitated and revived, after 23 minutes, by the dedicated work of the onsite Mine Emergency response crew. I was then transported 100km by road to the nearest medical facility where I regained consciousness about 5hrs later. Over the next hour I was further stabilized before being transported another 100km to an airport and flown 600km to the nearest major hospital. Upon arrival I was fully conscious, and apart from a few broken ribs, feeling remarkably well.

Did you have any warning signs of having a SADS condition before your SCA? 
Yes. I have suffered with unexplained syncope and seizure type events suspected to be vasovagal origin all my life. Medical investigation in the 60’s and 70’s provided no answers so I just lived with it. Collapsing on the floor was not an uncommon occurrence for me.

What has been the biggest challenge you’ve faced as a SCA survivor and/or living with your diagnosis?   
It’s not easy when you open your eyes to be told you died. Psychologically survivors deal with a raft of issues that only other survivors can understand. Only through internet support groups have I found the solace and understanding of other survivors.      

What is one positive thing that has come out of your SCA/diagnosis? 
Living the life I never would have had including a first class, all expenses paid trip to the London Olympic Games.

What encouragement or advice would you give someone who has just survived a SCA or been diagnosed with your condition?  
To reach out to the support community for both SADS conditions and Brugada Syndrome as soon as possible, you are not alone. Study up on your condition and become your own advocate.

What does your day-to-day life look like?
I am happy to say pretty much normal. I have a few risk factors I have to stay aware of and I have an ICD and regular monitoring, but, I feel physically the same as I have been all my life.

What are your favorite hobbies and activities?    
Cruising in our Z28 Camaro with the top down and spending a few days away, boating and fishing, in our cabin cruiser, both with company of my lovely wife Sharon.

Want to be featured in the SADS Spotlight? Share your story by answering a few short questions. If you have a longer story to tell, or if you’d like to write about a specific topic, check out our guidelines for writers

Name: Kaitlyn Miller
Age: 29
Which SADS condition do you have? Brugada Syndrome
When were you diagnosed? June 2019
How are you treated? ICD

How/when were you diagnosed?
I was diagnosed after passing out while in the car with my family. My EKG showed the typical Brugada pattern. I also had an EP study and positive genetic testing results.

What has been the biggest challenge you’ve faced in living with your diagnosis?
The biggest challenge has definitely been waiting for my daughters to be tested to see if they also have Brugada syndrome. Each of them has a 50% chance and waiting for results is not easy! 

What is one positive thing that has come out of your diagnosis? 
I have a new perspective on life since receiving my diagnosis. I don’t sweat the small stuff anymore and have realized that it’s important to live life to the fullest. My family is now able to be tested for the genetic mutation and my story may save the lives of my family members and others!

What encouragement or advice would you give someone who has just been diagnosed with your condition?
I would let someone who is newly diagnosed with a SADS Condition know that life goes on! As scary as receiving a SADS diagnosis is, you can still live a normal healthy life!


Update: Since this post was written, both of my girls have been diagnosed with Brugada Syndrome.

Want to be featured in the SADS Spotlight? Share your story by answering a few short questions. If you have a longer story to tell, or if you’d like to write about a specific topic, check out our guidelines for writers. 

March is Brain Injury Awareness Month.
Brain injuries can result from many causes.  One of these causes is anoxia (lack of oxygen) as a result of a SCA.   
As many as 18% of those who survive an out of hospital SCA have a moderate to severe brain injury.  
For someone who is diagnosed with a SADS condition after surviving a SCA, they are not only adjusting to a new cardiac diagnosis and treatment, but often are dealing with the effects of the SCA itself.  

SADS staff had the opportunity to interview Rebecca Hernandez, whose husband Eddie is affected by Brugada Syndrome and is recovering from a SCA and a resulting anoxic brain injury.   

Can you tell us how you found out that Eddie has Brugada Syndrome?

I had never heard of Brugada Syndrome prior to Eddie’s SCA.  He had what I guess you could describe as a syncope episode a few years ago after taking a Zyrtec. I rushed him to an urgent care where we were told he probably just suffered an allergic reaction. We were also told his EKG showed RBBB (right bundle branch block). The doctor told us it was normal and to follow up with a PCP and that was it.

Fast forward to a year ago, I was being told on day 2 after his SCA that he most likely suffered cardiac arrest multiple times due to a rare genetic disorder called Brugada Syndrome. I threw myself into researching the diagnosis the day I was told this was the culprit. Week 5 after his SCA, the doctors were able to verify that in fact he did have Brugada Syndrome. There are a few ways to verify this theory, but the doctors were certain this was his diagnosis after ruling out other electrical heart disorders.

What have been some of the biggest challenges your family has faced?   

The biggest challenge in the beginning was not knowing what type of recovery he was going to make. From the get go, I was told because he had sustained anoxic brain injury due to the cardiac arrest, he most likely would not have a good outcome. I was told on the 2nd day that I would be lucky if he remembered my name. It was also challenging getting over the fear of this happening again, wondering if our daughter carried this Brugada gene mutation, and all the unknown that’s circled around his diagnosis.

Every day was a constant battle of trying to get doctors to take Eddie seriously and not just write him off. That’s the sad thing about anoxic brain injury patients. Doctors are quick to write them off and give little to no hope to their families because there is little legitimate research that says these patients can recover.

About 6 months after Eddie was in the hospital, we were able to move forward with genetic testing for our daughter. Her cardiologist had Eddie do a saliva test to narrow down which exact gene was effected. With his results, we were then able to test our daughter via a blood test. Approximately 6 weeks later, the results confirmed she too has Brugada. Her ECG looks normal- but then again so did Eddie’s except when he was very ill in the hospital.

It is scary wondering about all the “what ifs?” when it comes to your child. It was absolutely devastating to know this is something she has. But, we believe knowledge is power and now she is able to be monitored.

Now that Eddie is home and has made an amazing recovery, the biggest challenge we face is what does our future look like. We are still trying to figure this one out day by day. He was left with several deficits that will forever affect his ability to work and navigate this world without a little help. But we are hopeful things will continue to get better.  

What have been some of the positives in this journey your family is going through?   

This journey has helped me to adopt this attitude of always finding the silver linings in life. Especially when you are thrown into a crappy situation. You almost have to in order to progress in the right direction. This situation has taught us valuable life lessons at such a young age. Each day is a blessing and we always try to make the best of things.

Through this journey we have been fortunate to meet some amazing people. Our tribe. They’ve loved on us and supported us which has really helped us to stay strong. I have also found that by sharing our story and helping others advocate or navigate this journey, it really gives me and Eddie a sense of purpose. We hope to inspire families and married couples by sharing our experiences.

But most of all, it’s made our little family of 3 incredibly strong. And that in and of itself is the biggest blessing.

You have shared your family’s story on social media (and now on our blog).  Can you share what has motivated your family to share your story? 

I’m a part of some pretty amazing support groups through Facebook. These groups and these people have really helped push me to be the best advocate I can be. I found myself staying up late at night skimming the boards answering questions and reaching out to other moms thrown into this journey via PM. And then when Eddie came home, I would read to him other people’s stories which gave him so much hope.

We decided we would like to start our Facebook page, Anoxic Brain Injury: through love and faith not only to share his journey, but to reach other people looking for support. We love sharing our story individually and as a married couple. We hope to inspire others not only that recovery is possible but that marriages can work after these type of injuries if only you are able to put in the work.

As a survivor of SCA myself, I know it is not just the survivor who is affected but also the entire family.  Can you share what sources of support have been helpful to you as a caregiver?  

Yes, so as I mentioned before, my Facebook support groups really were my greatest resource. There are also pages like the BIAA,  Brugada Drugs, and SADS that also provided me with a lot of great information. The information and knowledge is out there, we just have to go looking for it.  I know this can be hard when you are thrown into this journey. But it’s so important to utilize resources and find the right information to ensure your loved one is getting the best care possible.  

Is there anything that Eddie would like to share with us?  

Eddie would like to say that recovery is possible. He likes to say that “even though life may throw you a turd sandwich, you have to slap some jelly on it and make the best of it”. He also appreciates the support and resources SADS provides to families.

Would you like to share your family’s experience with a SADS condition?  
Please see our Guidelines For Writers and contact us at SADSblog@sads.org.