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.