The Great Need for a Cardiomyopathy Registry

August 4, 2014

A Cardiomyopathy Patient Registry

So, what is a patient registry exactly?

To put it simply, it’s a database of medical information on a particular disease or condition. For instance, a registry might track a patients’ age, sex, symptoms, devices and medications. For years medical registries have been used to track how patients do on specific medications or with a medical device. But they can be used for so much more. By tracking lab results, clinical outcomes, genetics and family history, doctors can utilize a truly complete picture of their patient. And if we track each patient with a certain disease or condition this way, researchers can begin to see similarities and differences that can lead to new standards of treatment.

There are currently medical registries that track diabetes, congestive heart failure, depression and asthma among others. Beyond a pediatric registry, until very recently, there hasn’t been a broader registry that tracks genetic cardiomyopathies, although these conditions affect more people than ALS, Muscular Dystrophy, and Multiple Sclerosis combined.
Cardiomyopathy Registry: Why Now?

There is currently no standard of care for cardiomyopathies. Treatment is done hospital by hospital, and there are limited options: invasive surgery, heart transplant or off-label use of heart drugs developed for other diseases. Not a whole lot of choice. A cardiomyopathy registry could help identify how patients fare on different treatments and could also support the development of novel therapies.

More and more is understood about the underlying genetics of Hypertrophic Cardiomyopathy and Dilated Cardiomyopathy.. The Sarcomeric Human Cardiomyopathy Registry (SHaRe) has been set up to accelerate this understanding. Pooling information about many patients – including their clinical symptoms and their underlying genetics can give doctors tremendous insight into the commonalities between certain gene mutations and patient outcomes. It can help identify in which patients a drug might likely work, and in which it will not. And even more importantly, it could help direct new drug discoveries that target the condition on the genetic level.

This new registry is finally offering hope where there has been very little. Hope for a future free of invasive surgery or transplant. Hope for freedom from a hodgepodge of drug therapies that treat only symptoms.

Hope for a better, longer, healthier life.

Hypertrophic Cardiomyopathy: A Disease Hiding in Plain Sight.

I have to say that I’m a bit tired of reading newspaper articles that call cardiomyopathy a rare condition. It’s not. Not in any way. Hypertrophic Cardiomyopathy (HCM) affects nearly 1 in 500 people worldwide. To put it in other terms, HCM affects more people than Cystic Fibrosis, Multiple Sclerosis, Muscular Dystrophy and ALS combined. It seems almost routine at this point to read about an athlete who collapses during or shortly after a workout and is later found to have HCM during their autopsy. It is the most common cause of death in young athletes.

But it’s not just the athletes. It’s the 12 year old walking the hallways between classes in sixth grade. It’s the 22 year old biking to work. It’s the young woman, eagerly awaiting the birth of her first child.

The thing with Hypertrophic Cardiomyopathy is that the people it affects often have no symptoms and look completely healthy. I don’t know how many times I’ve told someone about my condition or that of my daughter and had them respond “But you (she) looks so normal.” Far too often, the first symptom is atrial fibrillation that can lead to sudden cardiac arrest. I’ve been around hundreds of HCM patients during my lifetime and apart from those I saw at the hospital, awaiting or just after a heart transplant; they don’t look sick. People with HCM are all around us, hiding in plain sight.
Hypertrophic Cardiomyopathy is Complex

So, why is it that the headlines still refer to it as a rare condition?

I’ve lived with HCM my whole life, so I have an idea why. HCM isn’t a neat little disease that follows the rules, gives everyone the same symptoms and ends the same way. It plays by it’s own rules within families and even within the same patient. It changes direction, comes on strong only to back off at other times as if giving the patient a reprieve. Some people are completely asymptomatic yet are severely affected, while others with milder cases can have symptoms that effect quality of life in many ways. How can you really know and understand something that is so perplexing?

Something that scientists do know is that there are approximately 2000 individual genetic mutations that cause Hypertrophic Cardiomyopathy. 2000! And those 2000 are mostly in the 10 genes for the major proteins of cardiac muscle.

Until more is known, screenings need to be more commonplace in the doctors’ office. If you know your family medical history, even if it’s just that your Aunt Mildred has heart issue or Grampa Joe died in his 50’s of an apparent heart attack, then so should your doctor. If there is cardiac history in your family, then at the very least make sure you request an echocardiogram and an electrocardiogram (EKG). And if your GP doesn’t appear to be taking you seriously, ask for a second opinion and go to a cardiologist.

You owe it to yourself and to your future generations, because HCM is not as rare as it seems.

So, for those of you out there who share this condition, you are not alone. There are so very many of us and it’s time we raise our voices to the world and say “WE ARE HERE! “ It’s time to dispel the myths about HCM and bring it to the forefront of medical research. It’s time to come out of the shadows and quit hiding in plain sight.

On the Importance of Participating in Research

September 30, 2014 Wendy Borsari

When I was first diagnosed with Hypertrophic Cardiomyopathy at the age of 26, I won’t lie, I was devastated. I had lived with HCM my whole life, since my mother had it and my brother and I were followed at Boston Children’s Hospital until we were 18. But getting a diagnosis of a potentially fatal condition is never easy, even if the disease has been part of your daily life for as long as you can remember.

In many cases, as it was in mine, you’re suddenly thrust into a whirlwind of doctors’ appointments, lifestyle changes, and medications. In a very short amount of time you can begin to feel that your life is no longer your own. You’re just going along, playing by a new set of rules trying to keep some sense of control.

And in so many instances, it is at this time, when you feel like you are in crisis that you or your doctor might bring up the idea of participating in a clinical trial. Now, don’t get me wrong, I completely understand when you get to a point where your life has taken a dramatic turn in the wrong direction, that you’ll be thinking that you’ll try anything to just have your old life back. But this moment of crisis can no longer be the only time research is brought into the conversation.

There are research trials going on all the time, all over the world. Just take a look at and you’ll get an idea of what’s going on.

We need to change the where and when of this conversation, bring it out of the doctor’s office and into the public awareness. Clinical trials and research in general is how new conditions, genetic anomalies and therapies are discovered and brought to the world. Without research we’d still be living with the assumption that illness was caused by a curse or the “evils” of someone’s ways.
Research is the lifeblood of medicine

and without it countless people would continue to suffer and die from illnesses that now have cures. And participating in research for someone diagnosed with a serious illness or condition can make you feel like you have your voice back. It can empower you. You’ve now taken control of something that has made you feel like you’re a puppet and the illness holds the strings. It allows you to look at the illness and say “Enough! I have a voice and I’m going to use it!”

And while not all clinical and research trials will end with a cure or even leave you on the road to recovery, they may give you a sense of having done something positive. It may not be you that reaps the benefits, but someone, someday will and you were a part of making that happen.

Let me just end by saying that these are my views about participating in research. This is my “story” but it might not be yours. That’s okay. It’s a very personal decision that you alone can make. That being said, it’s not a decision you should make without first consulting with your physician. So, don’t make the decision for me, don’t make it for your doctor, make it for you. You have a voice.

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Clinical Research Studies: On being a guinea pig

January 22, 2015 Wendy Borsari

*Note: This blog post is about my personal experience with clinical trials & research studies.

Medical research has been part of my vernacular almost as long as I can remember. Growing up, I remember my mother routinely taking part in research studies, whether it was a clinical trial or a simple release of her medical records and lab results. My mother was being treated at a teaching hospital - one that was and still is involved in cutting edge research. Because of this, she was followed for her diagnosis of Hypertrophic Cardiomyopathy (HCM), in the hopes of better understanding the disease and maybe one day creating better treatments as well. For the same reasons, as a young child I was also followed at the local children’s hospital, although I wasn’t actually diagnosed with HCM until I was 23.

As I grew up, I was soon able to participate in research studies myself. There was never a doubt in my mind about participating in these studies. HCM had killed so many in my family and would go on to kill many more. So, if there was any way to help advance the medicine, and learn more about the condition or drugs that might work, I wanted to be the first person in line with my hand in the air. I wanted to be a guinea pig.

In my college years, it was still unknown which mutated genes caused HCM (then known as Idiopathic Hypertrophic Subaortic Stenosis- say that 10 times fast). Since then, more than 1,400 gene mutations have been found to cause HCM, and advances in organ transplantation and pharmaceuticals is truly astounding.

When my mother was first diagnosed with HCM, she was discovered to be in congestive heart failure. We were told that at the most, she might live just 5 more years. Luckily, through the use of new drugs and other treatment options, the number of years was extended. With current treatments today, people with HCM can expect to live just as long as the “normal” unaffected population. Whether through heart transplants, lifestyle changes, or drug therapy, HCM patients can actually plan for a future. They can think about working, having a family, and growing old.

This is what medical research does. It provides hope for a future.

I don’t know how many medical trials I have been involved with at this point. I simply stopped counting. But when the next one comes along, my hand will be in the air again. I hope both of my children will also choose to be involved. They participated in studies when they were very young, but now that they are 11 and 14, I feel it should be their decision. And with anyone, it’s not always an easy one. Sometimes study participation involves time for appointments, blood draws and interviews. Sometimes it’s simply signing a form so that part of your medical records can be shared. But whatever else it is, it is hope. Hope for yourself, for your family, and for future generations who will battle this disease just like we are today.