The SADS Foundation: Supporting Families and Saving Lives
Sudden Arrhythmia Death Syndromes (SADS) are genetic heart conditions that can cause sudden death in young, apparently healthy people. SADS conditions occur because the heart’s electrical system is not working properly, which causes abnormal heartbeat. These conditions can be treated, and deaths can be prevented. Warning signs of SADS include:
Family history of unexpected, unexplained sudden death under age 40
Fainting or seizure during exercise or excitement, including when startled
Consistent or unusual chest pain and/or shortness of breath during exercise
Because SADS conditions are passed down from parent to child, each child of an affected parent has a 50% chance of inheriting the condition. It is estimated that over half of the 4,000 SADS deaths each year of children, teens, or young adults have one of the top two warning signs: 1) family history of SADS diagnosis or sudden unexplained death (usually undiagnosed and untreated), or 2) fainting.
The Floreses, a SADS Foundation family, personally experienced the fear that SADS conditions can cause. Their story began on July 20, 2012, when the family went to SeaWorld, where daughter Bella (then seven years old), wanted to ride the new roller coaster. Three seconds into the ride, Bella passed out. She remained unconscious until her mom Rachel carried her off, though to the family’s good fortune, Bella awoke within seconds, alert and crying.
Nearly three weeks later, Bella spontaneously fell over on the playground at summer camp. Her campmates told their counselor, “Bella’s sleeping and won’t wake up!” (Can you imagine hearing those words?) A similar event had taken place; Bella had passed out and awoken within seconds. This time, the Flores family took Bella to the ER, where she was admitted for observation. Tests were given to rule out brain or cardiac involvement, and were all inconclusive. Staff members sent Bella home, but Rachel insisted on an event monitor.
Another three weeks later, while Bella was on the event monitor, Rachel received a call that Bella was in the office crying because she had tingles all over her body, face, and hands. Her parents took Bella to the ER again, where the staff labeled her with “panic attack,” giving her a paper bag and a sedative. The EKG monitor kept going off, but the staff assumed it was because Bella was wiggling.
Luckily, doctors eventually caught the hallmark rhythm of CPVT while Bella was still on an event monitor. She was quickly transferred to Rady Children’s Hospital and put under the care of the Director of Electrophysiology, who began to administer beta blockers. Lab results for Bella later confirmed presence of CPVT. We at SADS Foundation were emotional and terrified of what the future held for Bella, and even more terrified of a future without her!
But Bella’s story did not end at Rady’s Children’s Hospital. Today, she is a thriving 10-year-old who struggles with her physical limitations at times, but is overall a confident and exuberant child. Bella still manages her condition with beta blockers, and she now takes anti-arrhythmics as well. Though we must live cautiously, we live optimistically; and so does Bella.
The SADS Foundation became a reality in May of 1992 with the mission to save the lives and support the families of children and young adults genetically predisposed to arrhythmia-related sudden death. As the organization enters 2017, staff members, families, and supporters are celebrating 25 years of momentous achievement in this fight.
The medical landscape today is changing as more individuals manage their health proactively with the aid of affordable genetic testing. Whereas the community was once less aware of genetics’ role in determining disease presence, families can now gain insight by getting their loved ones tested to determine who may be at risk for inherited conditions. This is a trend toward prevention that is often the key to survival.
The Toloskys, another SADS Foundation family, provide one such story of preventative action through genetic testing. When Christie Tolosky died suddenly in 2005 at just 24 years old, her family and friends were shocked. Christie was a seemingly healthy and active young woman who loved everything about life and who planned to go back to school to pursue human services or education. Christie didn’t get to fulfill her dream of helping students, but she did help her very own family in a big way.
“After Christie passed unexpectedly, my brother and I were both given a full check-up and genetically tested, because there was nothing that explained why [Christie] passed away, and doctors didn’t know if it was genetic,” says Melissa Tolosky, her sister. “What they found in me was that I have long QT syndrome, and Christie had it too. I was immediately put on a beta blocker, which is a simple medication that lowers blood pressure and keeps the heart out of the higher danger zone it can get into. I’ll be on it the rest of my life, but it’s a pill every night, so I don’t complain about that. I have an ICD, which is like a pacemaker and defibrillator, implanted in my chest for a precaution. If something happens where my heart goes into arrhythmia, [the ICD] will shock it into place.”
Melissa’s brother, mother, and cousin have also been diagnosed with long QT syndrome. Melissa says that most of the time, she isn’t conscious of the preventative measures she has taken to potentially save her life. “My hope is that I live my life and [my ICD] never goes off. But knowing I have the ICD is a real safety feature that makes me feel comfortable. There’s no pain, and I forget it’s there. Sometimes I can feel it because it’s kind of a weird, hard cell phone-type piece in there.” Now, Melissa says she lives a regular life and doesn’t have to alter her exercise or diet at all.
As part of their healing process, and to ensure that Christie’s early passing is properly remembered, The Toloskys started “Christie’s Heartoberfest,” from which some of the proceeds are donated to the SADS Foundation. According to Melissa, the family had long been haunted by their awareness of Christie’s symptoms, which doctors had never thought to investigate as long QT syndrome. The Toloskys are now sharing the warning signs they’ve come to know so well, with the hope that sudden death doesn’t have to affect other families.
“Looking back, if we had heard of the disease, when she was lightheaded, passed out or felt dizzy, we would have known to ask a doctor to check her heart. [Long QT syndrome] is easily treatable, which is why the awareness factor is so huge,” says Melissa. “Christie called my mom one day from college and said, ‘Mom, I woke up on the floor; I remember the alarm clock going off and don’t know what happened next.’ She had just passed out, which is a common reaction to alarm clocks in people with the condition.”
Melissa, 35, says she was 22 when her sister passed. Now, being older than Christie at the time of her death takes on a strange significance. “Every birthday, I’m another year older than my big sister, which is something nobody obviously sees happening. But she has a special place in all of our hearts. We went through 22 years together with this weird bond that we never knew existed, and now whenever I go for a cardiac check-up twice a year or feel my ICD for a moment, it’s such a connection to her.” Because of all the family members who are now diagnosed and treated, Christie’s mother considers Christie to be the family’s guardian angel.
The SADS Foundation continues to make a difference in the field of inherited arrhythmias as the foremost leader in education, research, and advocacy for families of youth at risk for sudden death.
Phosphorus is proud to support the SADS Foundation at the Heart Rhythm Society Scientific Sessions May 10-13 in Chicago, Illinois. Please visit Phosphorus at Booth #2701 or the SADS Foundation at Booth #447 to learn more about the SADS Foundation. You also may visit the SADS Foundation’s website at www.stopsads.org.
The Flores Family
The Tolosky Family