All in the Family
Getting to the Heart of the Matter
by Jacquelyn K. Beals
“Will it really help me in my lifetime? It may. I’m sure it’s going to help my children, and lots of other people’s children, too.” – Rick Del Sontro
By the time Rick Del Sontro reached his early 40s, he looked like a man with everything going his way: He was president of his own company. He had a good marriage and two adorable young children. And, at a time when many Americans struggle with overweight or obesity, he was admirably fit.
In fact, Rick had even competed in an Ironman triathlon: a grueling competition including a 2.4-mile swim, followed by a 112-mile bicycle ride, then a 26.2-mile run – in that order and with no breaks between. But Rick never felt wholly comfortable about his health. Despite his doctor’s reassurance, it was hard to ignore his family’s history of heart disease. View Rick Del Sontro Video.
“It was really frustrating,” said Rick. “I’d wondered over the years what the situation was, but I bought into the whole story of, if you eat properly and you stay active, and you’re healthy, you check your cholesterol and your triglycerides. If those are all checked, you’re probably in pretty good shape.”
Then his 47-year-old sister started having chest pains. She’d had no previous symptoms and even had low cholesterol. But now her doctor discovered blockages and put in stents. “Look,” she said, “we have a family history of heart disease. That’s how our mom died. I really want to encourage all of you” (there were seven other siblings) “to go out and get a test.”
He was referred to a cardiologist. Like the previous doctor, he looked at Rick and said, 'I have no idea why you’re here.'
Rick took his big sister’s advice. But when he passed the basic stress test with flying colors, the doctor told him he was crazy and everything was fine. “I thought, ‘He’s a doctor, he’s gotta be right,’” Rick remembers. “So I went on my merry way.”
Several months later, Rick’s brother followed their sister’s advice. But the doctors didn’t like his test results, and catheterization revealed a massive problem. So massive that, at age 37, Rick’s brother had emergency double-bypass surgery.
“Here’s this 37-year-old guy who had no issues and was totally asymptomatic,” said Rick. At that point, he decided, “OK, I’ve got to convince somebody that there’s something wrong here.” He was referred to a cardiologist. Like the previous doctor, he looked at Rick and said, “I have no idea why you’re here.”
Getting to the Heart of the Matter
This time, Rick rolled out the persuasive skills that made him a successful businessman. “Look,” he told the doctor, “let me tell you a story. And at the end of my story, if you tell me I’m crazy, I’ll get up and leave.” Apparently Rick told a convincing story. The cardiologist ordered full body and heart scans to look for calcification of the arteries and related problems.
A couple weeks later the reports came back. “It was off the charts horrible!” Rick recalls. “I think my calcification was 390% of what it should have been for a male of my age. I took it back to the doctor and he said, ‘You’ve got heart disease.’”
Further tests revealed blockages significant enough to keep an eye on, but not severe enough to stent. While Rick was lying on a stretcher after the tests, someone came by with a brochure for the ClinSeq® study. “They’re doing a study at NIH and this might be interesting for you to think about,” the woman said. “Maybe you’d want to give them a call.”
The ClinSeq® study was comparing the genetic characteristics of healthy people and patients with heart disease, and it would involve “full gene sequencing.” Rick hadn’t a clue what that meant, but he knew he wanted answers. Maybe he would finally find out why so many in his family suffered from heart disease.
'We think you’re our guy!' they said. 'Do you think your family would be willing to participate in a study?'
Rick contacted the ClinSeq® study staff and went to meet them. “They asked a lot of questions. It wasn’t just about me, it was about my entire family. They wanted very specific details on every member and a medical history” – when people had died, parents, grandparents, great-grandparents, uncles; where they lived, if they had children, how he’d describe them physically.
“Two or three weeks later, I get a call and … he was almost giddy,” Rick remembers. “He was like: ‘Look I think you might be it!’ So I asked: ‘What do you mean?’” What he meant was that NIH’s ClinSeq® program thought Rick might be the patient with a family that they could study. “We think you’re our guy!” they said. “Do you think your family would be willing to participate in a study?”
Most of Rick’s family didn’t live nearby, but the program offered to fly them in to NIH. That night, Rick went home and emailed his family members: “Worst case, you’re going to get some great testing done. Best case, we can help out,” he said. ClinSeq® also told Rick that finding the gene that caused his family’s heart disease probably wouldn’t help him, maybe not even his children. But the knowledge would probably help his children’s children.
Expect the Unexpected
The people running the study had warned Rick that whole genome sequencing might also uncover results they weren’t looking for. Just before Christmas, ClinSeq® genetic counselor Flavia Facio called and asked him to come in the following week. “Dr. Biesecker wants to see you. We’ve found something in your testing we want to discuss with you.” Rick asked what it was. “We have to tell you in person,” she said.
“Naturally I was very nervous,” Rick recalls. “What did they find?” Sensing his concern, Flavia got Dr. Biesecker’s permission to reassure him: It was nothing life-threatening. So Rick met with them after the holidays.
Their first question blew him away: “Do you ever get numbness?” the doctor asked. Few people knew that Rick had had recurring numbness since he was 20- or 21-years old, with part of his body staying numb for days to months. At one point, he couldn’t lift his right arm to the side and had no control over it. Surgery was considered, but his arm improved over a few months and finally returned to normal.
Explaining that Rick’s gene sequencing had revealed a genetic condition called Hereditary Neuropathy with liability to Pressure Palsies (HNPP), the ClinSeq® doctor asked if any of his brothers or sisters had it. The doctor speculated that about half of them probably would.
Rick emailed his siblings and found that four of them had the condition. He’d had no idea! “I don’t know what they thought it was. I don’t know what I thought it was … but after 20-some years of not having any clue what was causing it, at least now I know … It’s a nuisance, but you learn to live with it.”
The whole study of genomics has just blown up … much more rapidly than I think they had ever anticipated. That’s the really exciting part.
One thing that has fascinated Rick the most about ClinSeq® is how fast it’s evolved in only a few years. “Not only is it guaranteed to help my children but it may, in my lifetime, probably help me. ... The whole study of genomics has just blown up … much more rapidly than I think they had ever anticipated. That’s really the exciting part of the study as I see it!”
As for the gene that causes his family’s heart disease: “The last I heard, they were heading to Italy looking into my ancestry … looking for that needle in a haystack,” said Rick. “I’ve gotta believe that they’re going to figure it out,” he says. “I know they will.”