Lisa Salberg was diagnosed with Hypertrophic Cardiomyopathy (HCM) when she was 12. When she was 22, she had a stroke and almost died three weeks after her wedding. The day Lisa left treatment, her 48-year-old uncle died of the same disease.

When Lisa was eight months pregnant, her 36-year-old sister died of HCM. Lisa raised her niece and nephew. (Her niece has the disease.)

Lisa gathered her family together; researchers studied their blood and isolated the gene.

The bad news was that researchers determined that Lisa’s daughter had the gene for the disease too.

So when Lisa’s daughter was 10, doctors surgically implanted a defibrillator in her chest as a preventive measure to make sure her daughter didn’t die the same death as her aunt, great uncle, grandfather and great-grandfather.

“We knew she was a gene carrier,” Lisa says. “She’s at high risk. We knew the family history. We opted to do it to protect her from sudden cardiac arrest.”

Linda spoke with Disruptive Women’s Wendy Grossman about how she now works to educate both doctors and patients about her HCM as the founder and CEO of Hypertrophic Cardiomyopathy Association.

DW: How are you disruptive in healthcare? You were very disruptive in your family’s healthcare.

LS: Yes, but that’s a whole other issue.

Let me give you a little bit of history. There aren’t many physicians who truly understand the disease that I have. When I first got active there were only three or four programs in the entire country that have programs that specialized in the disease. You were lucky if you could find one because there wasn’t really a method to accessing them. My goal has been to insure that everybody in North America has access to quality care for their disease no matter how uncommon people might think it is.

By having this philosophy, that everybody has a right to have a specialist who actually understands their disease, we began building centers of excellence around the country and encouraging these large-scale programs to train others. And help patients get to these high-volume programs so they can get the best care. Here we are 13 years later, and we have 17 programs in the United States.

DW: Wow.

LS: Why is that disruptive? Because you’re not staying in your own community all the time. You can’t. The best doc in your town might be a great doctor, a wonderful human being, and be really good at handling lots of different diseases. But if you have a disease that only affects 1 in 500 people, the chances that your local guy has ample experience with that disease is not really good.

We think you get better care when you go to somebody who has seen a lot of people like you.

There is a really particular surgery for HCM that should only be done by a doctor who does a lot of them, because it’s tricky and it’s easy to screw up.

We had a guy in April who thought his local doc could try it.

And at the ripe old age of 39 he was pronounced dead. He died 7 days after the surgery. Yes, the surgeon was a good surgeon, but he didn’t have enough experience with this particular procedure. And this guy died.

Had he gone to a center of excellence and had high-volume experience with that surgery his likelihood of surviving would be 99.5 percent.

DW: Did you talk to the man before his operation?

LS: I did. I talked to him beforehand. He thought it would be disruptive to his family to have to travel.

He thought it would be too much disruption to his family to travel to put them through the stress of having to go on an airplane for him to have heart surgery.

I think it’s far more disruptive to have him dead.

DW: Yes.

LS: The moral of the surgery is when you have a rare condition you have to stand up for yourself. I want the guy who does this every day. I don’t want to be unique and rare to the doctor who’s treating me. I want to be run of the mill.

The disruptive part is to really truly educate patients.

DW: How do you do that?

LS: I don’t sleep much.

DW: You sound a little tired today.

LS: I spend an awful lot of time on the phone, one-on-one when somebody’s diagnosed.

DW:What do you tell people when they first get diagnosed?

LS: Breathe. They panic. HCM is the leading cause of sudden death in the young. Not a nice diagnosis to get. They’re always panicked when they call. Always. They think they’re going to die instantaneously. We give them the reality check that they’ve probably had this disease their whole life (because it’s genetic) and they’ve made it this far, so they’ll probably make it tomorrow too, they calm down a bit.

Then we start the process. Number one, understand your anatomy. What is your heart doing? What does it look like. When people start to understand what their heart does, they start to look at it as part of themselves as opposed to some enemy within.

When they start to process all of this and understand cause and effect, they become empowered. Some people need surgery, some people need implantable defibrillators, some people need medication, some need to just get out and walk.

It takes an hour for a newly diagnosed person to help them understand what their heart is doing. We get their echocardiogram and read it with them and help them understand what the numbers mean so they can create questions to go back to their doctor with. No matter whether they’re a PhD, or a clerk at the local Quick Check, when they go back to the doctor with their list of questions and newfound understanding of their own heart, the doctor always says, “How did you learn all this? Now you’re a partner.” And the doctors appreciate it.

HCM defies logic. Our hearts shouldn’t work, but they do.

DW: What are three tips you tell people?

LS:

1. Know your family health history. You can learn so much from those who’ve gone before you — that doesn’t mean just mom and dad. It’s grandparents on both sides of the family, it’s aunts and uncles and cousins and siblings — and sometimes your children can teach you a lot.

Many diseases have some genetic component. If it’s somewhere in the family, it may be someplace else.

2. Don’t be afraid to ask questions. And if you’re in a relationship with a physician who you’re not communicating well with — find another one. It’s okay.

3. Don’t assume that normal is normal.

DW: What do you mean?

LS: Let me explain. I was 12 years old when I was diagnosed with HCM. I don’t know what it is to walk up a flight of stairs and not be short of breath. I don’t know what it is to be able to jog without chest pain or my heart racing or pounding. I don’t know what normal is. Just because you don’t think things are that bad doesn’t mean they’re normal.

DW: Tell me a little bit more about your family. You got diagnosed when you were 12, you lost so many of your relatives.

LS: My family was one of the earlier families to identify the genetics of HCM. We found ours in 2002. A number of families found their genes in the late 90s.

DW: Is it a different gene?

LS: There are currently 17 different gene mutations that can occur. And they can occur in many different ways. There are about 700 different, specific mutations that can cause the same disease process.

DW: Why did your family get genetic testing?

LS: I believe in research. And I was proactive in seeking out those looking for answers so we could help them find the answers. I donated my blood to science. My hope was to be able to identify the gene so when my niece and daughter and nephew were able to have children of their own maybe we could find a way to make the disease to stop. I knew it was too late for my daughter, and my niece — but maybe the next generation doesn’t have to worry about it.

DW: What’s your main goal with your organization?

LS: To save the world.

DW: What’s your doable goal?

LS: To improve the lives of people with HCM and hopefully save lives. I know that sounds broad, and difficult, and daunting — it’s all of the above.

It’s working. I’ve worked with over 4,500 families from 43 different countries. We help families every day and people are alive because of our efforts. Hopefully we will change more things to identify these kids before they die. For some kids the first symptom is sudden death — and that’s just not acceptable.

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