San Diego Scientists Transform Family Tragedy Into Legacy

Can genetic solve the mysteries of sudden unexplained death? A study at the Scripps Translational Science Institute is taking on that task when it comes to heart failure in young healthy people. These so-called youthful sudden death from heart disease claim several thousand lives each year in the US. Now Scripps researchers say they found a link between 129-year-old man and a genetic marker that has been found in other family members. Discovery is giving that family answers but also creating questions for surviving relatives. Recently I spoke with Dr. Eric Topol , director of Scripps Translational Science Institute and best-selling author -- author. And Dardie Robinson, she became part of the study after her 29-year-old son, Daniel, died from sudden unexplained heart failure. Dardie, tell us about Daniel. Daniel was 29 years old and he was a sweet young man. He was a gifted chef. He was also a gifted artist. He would paint these little figurines that people prized for this a gaming thing that people do -- role-playing I think it's called. He was just a sweet, lovable, wonderful son. Was his ticket all before his death like He went to the hospital 15 days before his death, complaining of shortness of breath. They said he had anxiety and gave him pills and sent him home. So one minute, he was as far as he knew, a vibrant, healthy young man. And the next, you got a terrible phone call. He had just called me -- six day before that, we talked for 42 minutes -- this wonderful, full of laughter and wonderful call from Daniel. It was real shock when I got the call from his friend saying they had found him blue and unresponsive after he lay down to take a nap. The paramedics were there working on him. Apparently he told people's very tired. Yes. And when his friend called me, I said tell them his mama loves him. And she said, I don't think he can hear you. And she said -- Did you have any idea what he might've died of at the time? No. When they said he was dead, they led us to believe he must have done something to cause his death. I kept saying, that doesn't make any sense. He was so happy. And he would have called me first. When did you find out that Daniel died of coronary artery disease? It was about 5 1/2 weeks before I got the autopsy report. It said the pathologist, theorized a sudden dysrhythmia had caused a clot. Sudden death from heart disease are not uncommon in your family, Dardie, how many of your family members have been affected? I count 11 that have died suddenly of cardiac arrest. Were these people as young as your son Daniel For instance, my dad's brother James, he was 42 and he said I will call it early tonight because I'm really tired. I thought I could see what -- sleep 100 years. He never made it to his bed. He was dead. Then I have my cousin who is 47, who wasn't feeling well -- and he wasn't going to going to work that day. When his sister couldn't reach him by phone call she had her son check on him and he was dead. My father -- when he was 52, he had a major heart attack. He was the only one -- decides my cousin -- my cousin Kathy, Kathy noted in the doctors office. She was able to survive hers. She had a heart attack but didn't die. Yes. Dr. Topol, dirty seems to represent the kind of research were trying to solve. Were very lucky, here in San Diego we have the first program where the medical examiner -- were working every sudden death in a young person were the autopsy doesn't show anything. As with the case and Daniel. Then we go ahead and do a genome sequence of the disease and other family members. As it turns out, Daniel didn't die of heart disease. He died of a heart rhythm problem. We do feel we have isolated the mutation that was present in him and President -- and present in Dardie, and other family members. We can now not leave Dardie and her family in a lurch and try to present these catastrophic occurrences. This is one of the great and if it's and windfalls of the genomic information era. Some people are calling this a molecular autopsy. That's the term we use for our project. It turns out over 80% of young people who die suddenly -- when you do a regular, routine autopsy, he doesn't show anything. In order to find what happened, you have to go with the molecular genome level. That's when we can find out. We've done over 30 families like the Robinsons. Many times we are not successful in determining the root cause. But at least in a fourth -- 25% copy have been. Overtime, if we can get the program to grow nationally and internationally, will be able to get to a higher level. Ultimately copy idea is this is the path to preventing certain -- sudden death. Certainly in this family, but a March larger scale even. So apparently it's difficult to interpret the results of this kind of DNA testing because you only have results in 25% of the people you are studying is that right? We are enhanced because we are the first to go to various family members and doing -- sequencing on them. That helps to sort out what to be the cause. It's true that because the has been so limited genomics of people who have had sudden death. This is never been done except as an antidotal study in the past. Ferreting through that massive amount of data to pinpoint mutation that cause the fatality. There's no reason to assume the pinpoint mutation that is causing the problem in Dardie family will cause the problem in someone else's explain death. There you go morning. We are talking about thousands of mutations. The likelihood will see this one again -- it could take years. Because these could be relatively private mutations of a family. Or -- extremely were -- extremely rare. This particular mutation is for electrical conduction of the heart. There are many different ion channels. And there are thousands and thousands of different variations that can occur in each of these channels. So you get a flavor of how complex this can be. Dardie, how did you hit -- handle the results of this research? I called my five surviving children. And I want to say thank you to Dr. Topol and two scripts because I no longer live in San Diego County. I haven't lived here for 50 years. And yet they took on my son's case after I convince them. And I just -- I contacted my kids immediately and I said we need to get you tested. Their doctors came back and asked where we -- word we get it? I went back to the Institute and they said they would test my family. For me, that was is a huge gift. Did they all want to be tested? He didn't have a choice. Not with Dardie is a mom . Is there something Dardie, when your family can do to make it less likely if you have this mutation, that you will suffer the same sort of heart attack? Yes. They also testing my cousins by the way. My understanding is that, implementation -- I'm not sure if it's a defibrillator or a pacemaker, I'm not it Dr. There's a preventative measure that can be done. I had an appointment on Monday where I started the process to look at that. And Dr. Topol are you recommending family members who show signs of this genetic marker to have that kind of operation in order to have that installed X Well -- that's an important question morning. Just like Dardie is going evaluate -- undergoing evaluation. It's not entirely clear. It could be that a pacemaker is necessary. It could be a defibrillator. We can now track the heart rhythm for two weeks in a person just with a Band-Aid. Were in a different era for doing that. Results of those kinds of tests were to help firm up whether to do one of these procedures. And which one. We are right at the early time for this evaluation. Dr. Topol, is scripts the only place doing this research? We are the only ones doing it with the medical examiner every single sudden death in a young person after the autopsy proves to be negative. And also doing the family member genomic. Yes this is the first program of its kind. Were hoping to get it throughout the United States. We have some other medical examiners in California, Nevada and we're talking with Marilyn, New York City and many other places. Hopefully, over time, the results we have a Nice first 30 families -- this is the first time ever a family has come forth to terrible -- tell their story. This is not easy to rehash all they have been through. This we hope will help ignite interest around the country to do this. Should be routine -- not just a research tool. We don't want to leave people who have had a sudden death in their family. You can hear from Dardie how she has lived every day of her life think he could be the last one. Do think, Dr. Topol, this will become a routine part of autopsies when other causes can be found? Yes, Jonathan Lucas who is there find him -- phenomenal medical examiner, he spoke to that. The reason it hadn't been done is that it took the price to come down. Now that it has gotten below $1000 and will keep dropping, that is one of the big features that allows us to proceed. Now Dardie, Dr. Topol spoke to us and you have been aware that this is been a problem with your relatives having unexpected and sudden death from heart disease. And you been preparing yourself for a in some way. I wonder if you think that this new knowledge you and your family have now is Daniel's legacy to your family? Daniel always wanted to do something significant with his life. He did. He's just not here to see it. I feel like he saved other people in our family and maybe other people around the world. And want to thank you for coming and speaking with us. I have been speaking with Dardie Robinson and Dr. Eric Topol of the Scripps Translational Science Institute . Thank you both very much.