Finally!

I didn’t know what I was going to do, but knew I had to find a new doctor and fairly quickly.

I had heard about a heart fair at a local hospital the first Saturday in February, so about 10 days later. It was a free event, so decided I had better go check it out. During the interim, I began researching cardiologist through my insurances’ website. I would read through the minimal bios, and I found about 5 I wanted to research further. I spoke to the referral nurse at the office I was working, to get her opinion. She hadn’t heard of any of them before. So, to the computer I went once more.

After a little bit more searching, I zeroed in on one doctor. He listed his specialty as an Electrophysiologist (the “electrical” heart doc). Plus, he listed research and genetics as a subspecialty.

Hmmmm, sounding promising! So, I made an appointment. I couldn’t be seen until the end of May, but at least I had an appointment!

The day of the fair dawned cold and clear. I drove to the hospital, about 20 minutes from my house, and was surprised at how full the parking lot was already! It was a packed house!

I finally worked my way to the entrance, and started asking who I should speak with about HCM….

Two hours later (quite literally!), I finally found a nurse that had actually heard of the disease (nobody else had even heard of it before!), and directed me to go to the heart failure clinic at the other end of the hospital and downstairs.

It took me a while to traverse the hallways and the horde of people, but I finally got down to where I needed to be, and found blessed silence. There was me and one Nurse Practitioner down there. She asked if she could help me with anything, and I told her I was directed down here to see if this is where I needed to be. I was able to explain my history and story. She listened and then told me I was in the right spot!!

Victory!!

I told her I had an appointment with an EP in a couple of months. She told me yes, to keep that appointment, and that the doctor I had scheduled with was also part of the HCM team. But, I should really call this number (she handed me a business card with the clinics number circled) on Monday and tell them I needed to schedule an appointment with the HCM clinic.

Talk about relief! I wanted to cry right then and there! You mean, not only have you heard about this disease, but you have a clinic devoted to HCM patients?!

You bet that number was the first call I made Monday morning, and I got an appointment for 2 weeks later. I was excited and nervous at the same time. The next couple of weeks crawled and flew by.

My appointment day finally arrived. I did not know what to expect. I had already arranged with work to go in later that day, after the appointment, so I was dressed in my scrubs. I got down to the sign in desk, and was checked in with little fuss, as all of my medical records had already been sent over.

I was called back to the room by one of the medical assistants and vitals checked. She told me the pharmacist would be in shortly. Pharmacist? Really? And a few minutes later, he walks in. He goes over my complete medication list and asks me questions pertaining to their dosage and usage. About 10 minutes after the pharmacist leaves, in comes a Nurse Practitioner…..Jeff (he would become one of my favorite!).

Jeff spent a very long time with me…at least an hour. We went over my medical history, my family history, my medication, and we spoke about how I was feeling. Did anything cause my symptoms to worsen or to get better? Then he did a very thorough exam. He told me he was going to go out and speak with the doctor and that they would be back in a little bit.

This next part, lasted about 20 minutes. Then Jeff and a doctor walked in. The doctor told me I could call him Rami (as his name was just waaay too long and hard to pronounce!)

We covered a lot of the same ground, just not to the extent that Jeff and I had. Another quick listen and look. And then we sat down to discuss the upcoming plan of action.

What? You mean I actually have a say? How novel!

I left the clinic that morning very excited and happy! Not only did I appreciate the “team” approach, but to actually have medical personnel that understood my disease. Most importantly to me, they LISTENED to what I had to say, and appreciated my input into my care! I didn’t know what the future was going to hold for me at that moment, but I honestly didn’t care….because I had found a group that wanted to help me.

I was to learn a bit later, that I had stumbled on an HCMA approved Center of Excellence for HCM. What a HUGE difference in approach and care!

I made a follow up appointment for 2 weeks later, and so began the next leg of this journey…..

Advertisements

Follow Ups and Firing

I was finally discharged! I couldn’t get out of there fast enough. But now comes the hard part, living and not having answers.

I still wasn’t feeling very good. My blood pressure was super low, and I would get very dizzy when standing. I would have to steady myself before I could get moving. I could still feel my heart playing jump rope in my chest….not the most comfortable of feelings. I tried researching like crazy, but coming up with nothing to explain what had been happening. No real family history that I was aware of at this time, other than a lot of “heart” problems on my dad’s side. But all of that was due to atherosclerosis, and my vessels were totally clean. No, it wasn’t that. The only other history I knew of, was my maternal grandmother died in her sleep while at home. She was in her 50’s. And her only medical history that my mom knew about was high blood pressure.

One day, I might get answers. But not today…and not for the next 2 years.

My first follow up. I had repeat blood work, and noticed my BUN/Creatinine (kidney function tests) was starting to rise significantly, meaning my kidneys were in the beginning stages of failure. I mentioned this to the doctor, and he just told me we would monitor it. He was pleased with the progress I had made thus far, and said to follow up in 3 weeks. He did some minor medication tweaking.

I started back to work, and it was difficult. The dizziness was getting worse, and I had absolutely no energy. After arriving at work and during my lunch time, I would snooze because I was so tired. I would find myself having to hold on to walls as I was walking out to get patients. I also began getting increasing (what I now know to be) ocular migraines. It was hard to read the orders during these times. The really bad ones could last for 1/2 hour or more, and would completely drain me of what little energy I had.

But life goes on, and you deal with the cards dealt. I learned to adapt to my new normal.

My next follow up went as much the same as the first….follow up in a month. No dosage changes at this visit. But did say that we might do some more tweaking at the next visit.

The next follow up did not go as the first two had. Unfortunately, my insurance is attached to a mail order drug company called OptumRx (bane of my existence!). According to Optum, we are only allowed 2 refills at a local pharmacy for the same drug. Okay. I got the original prescription filled, and then tried to do the 2nd refill, and it got denied. WHAT?!?!? This would be the first of MANY phone calls to Optum. I found out that they consider the FIRST fill as a refill! So, since I had already filled one prescription twice, they refused to fill it again. I was down to less than a weeks worth of pills and a mail order fill on a new medication would take about 2 weeks to get to me. Armed with this new information, I went into this appointment thinking I could possibly get a couple of weeks worth of samples to tide me over..as long as he didn’t change the strength. And, I knew samples were available because I worked at other offices that had them. This drug is not cheap! To pay out of pocket, would have cost me over $300 for a month’s supply. I didn’t have it. So, stupidly, I asked for some samples. He laughed at me….I mean, actually LAUGHED! Then said, “Do I look like a pharmacy?” My jaw dropped. I couldn’t believe his rudeness! I told him I couldn’t afford to pay out of pocket, the drug was too expensive. What he said next was the straw for me….He said, “Your husband’s a lawyer, he should be able to afford it!” My mouth closed up tight. I didn’t say another word. He told me to follow up in 6 months. I walked out of the office without making an appointment. I was livid! I started crying on the way home. Everything just hit me. It was too much.

First doc fired!

I got home and told Lou what had happened and that I would never go back to him again. And so begins the search for a new cardiologist….

Rare or Common?

So, I am going to digress for just a bit.

I had a very nice and lengthy conversation with a good friend of mine a couple of nights ago. So very good to hear from one of my old friends! He just moved from Utah, too…..but he moved to Florida!

During the course of our conversation, he told me the position he was offered and accepted turned out to be for a group of cardiologists. Coinkidink?? I think not! Time for education.

The conversation circled around to my condition. Then he proceeded to tell me that one of his docs was upset because he couldn’t get one of his patients in for an MRI….and he thought it was to get a diagnosis of HCM. Ahhhh, good! A cardiologist that is actually listening to the patient! Then Oscar said something that we hear all the time….so I want to dispel this very common myth.

Oscar said, “This disease is pretty rare. Isn’t it?”

No.

It is just the most poorly understood and misdiagnosed cardiac disease out there. And I know I may get some flack for this next statement, but especially among women.

Why, you may ask? HCM can present so very differently with each person….even among first degree relatives. If you remember, only about 50-60% of the genes that can cause HCM have been identified. So quite a few of us get our genetic reports back that say VUS, variable of unknown significance. So, we can’t say we have a genotype. Others get their results back, and they have a known gene. This makes it great for family members, because now they can get genetic testing for that (or those) particular gene(s). And here is another kicker. You may be gene positive but phenotype negative. So, what does that mean.

This means that they carry the mutation for the HCM gene (and therefore may be pass it on to future generations) but lack pathological evidence of the disease…they are not symptomatic.

Then we have the genetic positive phenotype positive person….meaning they are positive for a known gene, and they are symptomatic. Now, here is where it gets kinda tricky!

We are going to use our little “family” of Blows. Joe Blow marries Jane Blow and they have Billy Blow, Mary Blow and little Timmy Blow.

Jane Blow has been told her whole life that she has an “innocent” murmur and to not worry about it until she goes to a dentist, and to premedicate (take antibiotics before any dental work). She has also been diagnosed with anxiety, so is taking anti anxiety medication. This goes on for years. Nothing more is done. No additional testing ordered or completed.

Billy Blow is playing basketball with his friends…and all of a sudden he collapses. He has no discernible pulse and he isn’t breathing. His friends begin CPR, EMS contacted and on their way.

Billy is very lucky. He survives his sudden cardiac arrest. Further testing shows he has an “enlarged” heart. A cardiac MRI is ordered. The MRI shows a thickened septal wall and scarring throughout his heart muscle. A very alert and observant cardiologist diagnoses hypertrophic cardiomyopathy. And even better, he refers Billy Blow to a COE (center of excellence) because he knows this is out of his scope.

Billy Blow and his family travel to the COE for his appointment. The Blow family learns that this is the number 1 genetic heart condition in the world. (I will let that sink it for a minute…..the number 1 genetic heart condition IN THE WORLD!). The HCM expert they meet with recommends genetic testing for Billy, plus a meeting with the EP that works within the HCM clinic. EP is short for electrophysiologist. An EP works with the electrical part of the heart. It is determined that Billy had a fatal arrhythmia that caused his collapse. And an ICD is discussed and decided upon. Billy has had no other predisposing symptoms. Once the genetic tests come back, it is discovered Billy is positive for one of the genes. After a meeting with the genetic counselor, the Blows agree for testing on the rest of the family members.

At the next meeting with the HCM team, the genetic results show that Jane Blow and Mary Blow are also positive for the same gene that Billy has. Timmy has gotten lucky, and does not carry the gene. Jane and Mary both undergo extensive testing. Jane discovers that all of those years of being told she was just “anxious” was intermittent irregular heart beats that had gone undiscovered….and that “innocent” murmur, wasn’t so innocent. Mary was lucky. She was having no symptoms at all and all of her testing came back normal. Mary wasn’t out of the woods, as she would still need periodic testing.

So, let’s look at this family. Jane, Billy and Mary are all positive for one of the genes that are known to cause HCM. Jane and Billy are both symptomatic, although with different manifestations of the disease. Mary, thus far, is totally asymptomatic.

Let’s jump ahead 30 years….

Mary is still getting testing done, but she has noticed some subtle changes. She has noticed that it is taking her longer to climb the stairs in her house. And, she is winded by the time she gets to the top. She has also noticed that every time she bends over, she becomes short of breath. A call to her HCM team to notify them of these changes results in another trip to the clinic and more testing. It is determined that Mary is now obstructed. The doctor suggests a meeting with the surgeon, who recommends a myectomy and mitral valve repair or replacement. He wouldn’t know which until he got in there. Myectomy and repair completed, and Mary feels much better and is like her old self. Is she “cured”? No. She still has HCM and can still develop other issues associated with the disease. So, she will still need to be closely monitored.

This is just a very quick look at how very differently HCM can exhibit in one family. One family, one positive genetic marker and 3 vastly different presentations. This is what makes this disease so very difficult to diagnose and treat….and why it is highly recommended to be followed by a Center of Excellence.

Now, back to the original question. How prevalent is HMC? An older study says that affects around 1 person in 500 in the general population. These stats are based on echo readings only. We now have 2 new technologies that show that HCM may be even more common than that. MRI’s and genetic testing have shown that those numbers may be as high as 1 in every 200-300 people in the general population. HCM is even more common than a lot of diseases that have greater recognition in the medical industry.

So how rare is HCM? Not rare at all. It really does behoove you to be an advocate for yourself and/or your family members if you feel something just isn’t right.

Please be that advocate.


The Weekend

What a miserable way to begin the new year!

I couldn’t believe I would be stuck in the hospital. I was so scared and angry. I still had no idea what was causing all of my problems, especially my blood pressure. I kept asking myself WHY ME?!?! What did I do to deserve this?!?! I was getting no answers from the universe, or the doctors.

I had no idea what the morning would bring, but sleep did not come. And, as most know, sleep in the hospital is kind of a joke. At around 4am a knock on the door brought the resident vampire. Time for more blood work. In and out, thank goodness. I just wanted to be left alone.

Soon, the rest of the floor started to awaken. A new day begins.

I was to find out, blood tests were the first of many tests to be done that day. Xrays, scans, imaging, you name it, it was done. Finally met with the weekend oncall doctor. Right away, we clashed. He didn’t feel as if I had the right to ask questions about MY health! Lou liked him. He felt he was right to the point. Of course, everyone was still blaming me for my health issues. It didn’t help my mood at all. But still no real answers to what was going on. And my blood pressure continued to remain high.

Trial and error with blood pressure medication finally started working. Unfortunately I was on 5 different medications just for blood pressure. There was one more test the doctor wanted to do, but required a special medication that had to be flown in. That night we got a snowstorm, and the plane was delayed. So, another night in the hospital.

I also remember during this time, I found out that the hospital I was in was out of network with my insurance. I knew it was an emergency admission, but I was panicking, so placed a call to my insurance company. Wrong move! The gal that answered the phone was less than helpful. And quite honestly, made things worse. According to her, I should have gone to an in network hospital. I explained what happened and the reason I couldn’t go to another hospital…and I told her what my heart rate had been. Quite seriously, she then asked me…”Is that high?” I was incredulous! Seriously!! A person working at a medical insurance company, and she didn’t even know BASIC information?!?!?! I began yelling into the phone. Lou heard me and came back into the room. I explained to him what was going on, and that we would be responsible for the out of network charges….which by this point, was nearing over the 6 digit mark. I started packing up my stuff. Lou asked to take my phone and speak with the person on the other end. He then walked out to the nurses station to “chat” with her. Not really privy to the whole conversation, but the outcome was that the insurance company would be paying the bills as if it were in network. Pshewwww!

Sunday morning. The doctor comes in and explains the delay for the drug needed to do one last test. As we were talking, I asked if he had done certain tests to see if it could help answer my high blood pressure issue. Nope, he hadn’t. At least he listened to me on this part. The tests were ordered, along with a KUB (kidney, ureter, bladder xray). More blood work, and back down to xray. Just like all the other tests, they came back negative. One last test…just waiting for the drug. And, I needed to be NPO (just sips of water to take my numerous drugs!)

Finally, around 5:30 that night, they came to get me to do the test. It took forever, and got back to the room around 8pm. Still not allowed to eat or drink anything pending test results. I was just ready to GO! About an hour later, the doctor walked in. Test was negative and I was free to go. Of course, being a hospital, checking out is quite the ordeal. I think it was finally about 10-1030 that night that we got to leave.

I was so very glad to leave, but without answers. I was to follow up in 2 weeks with the doctor I really had no respect for. We shall see how that works!

Cardioversion

Sorry to leave everyone hanging…but life and work kinda got in the way!

Cardioversion!! The next step in trying to get my heart back into a normal sinus rhythm.

Yeah, I knew what it meant, as I had done it several times on other people during my time as a paramedic and ER tech. Shoe is on the other foot, as they say.

What exactly does this mean? Well, remember, my heart was in an arrhythmia called rapid afib. In order to get my heart back into normal sinus, drugs are typically the first line defense. But, multiple types of drugs didn’t work for me. This next step requires the placement of two electrode pads to be placed on me…one on my chest and the other on my back so that they are kinda mirroring each other. (Sometimes you will see them placed one below and to the left of the left breast and the other towards the right shoulder. Either way works.) Then an electrical impulse is sent to the pads and the heart is (hopefully) shocked back into a normal rhythm.

The doctor came back into the room and asked if I minded if a medical student could join us. Of course not! So, the medical student started to place the pads on me, and I helped direct the placement, as he had never even seen it done, let alone done one. Got the pads placed and hooked up and we were set. The doctor came back into the room, and had the nurse give me the “twilight” drug…typically versed. But I honestly don’t remember what it was. This was supposed to help sedate me, but still be awake and then help me to forget what happens next. SUPPOSED to help…..KABAMMMMM!! (I need to find one of them Batman cartoons with all the funny captions!) However, it wasn’t funny. Yes, I totally felt the jolt and I totally remember the feeling. But even more importantly, IT WORKED!!

So, heart was back into normal sinus rhythm, but my blood pressure was still sky high…even after all the drugs I had been given. I found out that the ER doc had been in contact with the cardiology department during my stay…so he came back in and told me I was being admitted. NOOOOOO!!!! Yes, I did actually say it. Even though I knew it was inevitable. UGHHHHH. I didn’t have the time or money to be sick! I called my supervisor back and told her I was going to be admitted and that she needed to find someone else to work the next day because I didn’t think I would get released that night either. I was so angry and so very depressed at this point. I’m sure I acted like a petulant child….but I was so done with all of this! And it hadn’t even started. Little did I know, this would be the start of a 2 year long battle to get at the truth of what was happening to me.

I was rolled up to the step down unit and got settled into my new bed. No sooner than that happened, when the echo tech showed up at my door along with the admitting doctor. The tech did a quick echo…lasting about 15 minutes…while the doctor watched. After the echo tech left, the doctor invited my family into the room. He told them that my heart wall was thickened, and the reason it was thickened was because of my extremely high and uncontrolled blood pressure. He estimated that it had been going on for at least 7 years. I tried to explain again that that couldn’t be the reason, as I hadn’t suffered with high blood pressure before. I did biometrics every year for work, and my blood pressure was generally in the 130s/80s. Again, nobody paid any attention to the body on the bed. Yes, I was angry…but even more to the point is, I was very hurt. Why wouldn’t anyone believe me?!?! Of course, everyone started blaming themselves and apologizing. I just sank deeper into myself and tried to drown out the noise. The rest of that day, and even into the weekend, a lot more tests were ordered and performed. I found out that my BNP, troponin and CK levels were elevated. BNP is a marker for heart failure, while troponin and CK are markers for muscle damage….in this case specifically, cardiac. Because of the blood work, at first they were thinking heart attack. So more tests were scheduled for the weekend to rule out or confirm various potential problems.

So, my first night in the hospital, I went to bed not knowing what was happening and scared of what the future might hold.

The Journey Begins

January 3, 2014

Such an innocuous date, isn’t it?

This is the date that would be the starting point of this path I am now traversing. And one that I remember every detail.

It started innocently enough. Got up, got my shower, got dressed…just a normal, every day occurrence. I had done this for so many years, it was just automatic. Except, that day I needed to take my box of homemade soaps and lotions, as I would be meeting with a potential customer after work. I was loading the box in the back of my car, and it started. “Oh crap!”, I thought. “This is NOT good!” Being a former paramedic, I had a very good idea what was happening, but without any equipment, I couldn’t know for sure. That day, I was scheduled to work in an ob/gyn office at St Marks hospital in Salt Lake City, Utah. All the way in to work, I could feel my heart racing. I couldn’t count the beats, nor could I break the cycle. I would try another couple of tricks once I got to work. Once I got parked, I just sat in my car for a bit….I didn’t want to get out, but I didn’t want to stay there. I kept looking at the insurance card I took out of my wallet….knowing I would most likely be using it. I was terrified. I was angry!

I finally found the courage and the strength to leave my car. I rode up in the elevator to the 5th floor office. Once I got in there, I immediately went into the bathroom to try my remaining tricks..all to no avail. What I tried was called the vasovagal maneuver. It is done by bearing down like you are having a bowel movement. I also tried splashing cold water on my face….all to try to stop my heart and hopefully have it start back again in normal sinus rhythm.

I went to my desk and noticed that I already had a patient waiting for me to draw. I was feeling pretty crappy by now. I went out to the lobby to grab her, put her order in the computer, and drew her blood. I was shocked I was able to do it. I was very shaky and dizzy. The receptionist brought in another order for me….this time it was for a 3 hour glucose. I was able to get the patient back, put the order in the computer, draw her fasting blood, give her the glucose to drink…and I was done. The receptionist brought another order in for me….said, “You look horrible!” Told her, I wasn’t feeling good and that I thought I needed to go to the ER. She asked if I thought I could make it down by myself. I told her no.

I called my supervisor. I said “Jenn, I don’t feel so good, I think its my heart.” She told me to get down to the ER. I was still waiting for the wheelchair to get me down there. I could barely talk by this time. I called Lou, my husband, told him I was going to the ER, something was going on with my heart. Finally, the wheelchair got there! Got into the wheelchair, grabbed my stuff and waited in the hallway for another 20 minutes. All the time my heart was racing.

Finally, someone from the office started pushing me downstairs to the ER. Got down to triage, nurse asked me what was going on. I told her “I think I’m in rapid afib. I can’t count my pulse, nor can I break the cycle.” I don’t think she really believed me. She took her time putting on the pulse ox. As soon as she saw the number, she rushed me back into one of the trauma rooms, where I had 3 other nurses come in to help me get undressed and hooked up to the monitor, IV’s started, blood pulled and sent to the lab.

Being me….I asked what they saw, because of course, the monitor was behind me and I couldn’t see it very well. Nurse said vtach. I said, “are you sure? I think its afib, because I couldn’t break it.” About this time, the ER doc walks in and asks the same thing. Nurse said vtach. I asked the doctor to look again, because I thought it was afib. Sure enough, afib. Rapid afib. My heart was was about 188. And I had been in this rhythm for going on 3 hours now. The other issue I had, was my blood pressure was sky high. That is probably the only thing that kept me conscious this whole time. Problem is, I had never had issues with my blood pressure before. So really didn’t know what was going on.

Doctor came over and started talking to me and about that time, I saw my parents outside the room. What? I did a double take. I kept answering the docs questions….health history, medications, family history, etc. Then listened to my heart and lungs. He told me he was going to try some drugs to break the rhythm.

While he was getting that together, my mom and dad walked in. When asked, they told me Lou had called them and they rushed up there.

Drug number one given. Rhythm broke for all of 2 minutes…down to a low of 155. Drug number 2 on board….nada. Drug number 3. Rhythm broke for a bit longer this time, down to the 150’s for all of 5 minutes, then back to the 180’s I went. Doc came over to me and said “You know what’s next”. Yup, I did, as I had done it myself many times.

Cardioversion.

What is Hypertrophic Cardiomyopathy?

HCM.

Three little letters that don’t mean much to most people.  But to those of us that have this disease, it can and does stop your world when you hear them.  Am I going to die?  How much time do I have left?  Will I have a good quality of life?  These are just some of the questions we wonder about and ask.

To others, tears of relief are shed…as we now have a reason for all the symptoms we can have! 

The truth is, for the vast majority of HCMers, quality of life is minimally impacted, if at all!  Actually most people and families don’t even know they have the condition, until it is discovered at an autopsy.  Signs and symptoms are dismissed as other issues, even by the medical profession.

Hypertrophic Cardiomyopathy is the most common genetic heart condition in the world. And, unfortunately,  it is the one that is least understood.  It is estimated that this condition affects 1 in every 500 people, and can be as high as 1 in every 200.  The vast majority of people are unaware that they even have this condition, even when they are symptomatic.  The symptoms are often contributed to other causes, such as asthma or anxiety.  Because so very little is understood about this disease, it is stressed that the person be evaluated by a cardiologist well versed in the variabilities of HCM, even within the same family.

Cardiomyopathy is a condition in which the muscle of the heart is abnormal in the absence of an apparent cause.   Hypertrophic cardiomyopathy is an excessive thickening of the heart muscle (hypertrophy literally means to thicken).  In addition, microscopic examination of the heart muscle is abnormal.  Normal alignment of the cardiac muscle cells is absent, and instead you see myocardial “disarray”.

a) normal cardiac muscle
b) cardiac disarray
c) microscopic view of cardiac disarray

While HCM is typically recognized by its structure, the electrical component of the heart can be adversely affected as well.  Arrhythmias, irregularities of the heartbeat, are a common complication. Symptoms such as palpitation may occur, but not often. Exercise testing or Holter monitoring may detect them. The arrhythmias called ventricular tachycardia (arising from the ventricles) or atrial fibrillation are particularly important and may require treatment. In atrial fibrillation, the normal regular rhythm of the heartbeat is lost and replaced by an irregular rhythm, which may be episodic or persistent. The loss of normal atrial (the top of the heart) contraction produces a risk of clot formation in the atria. Anticoagulants and drugs to slow the heart rate are required.

Some other complications that can arise are:

  • Endocarditis – infection of the heart (rarely occurs with HCM)
  • Heart Block – the normal electrical signal to the ventricles may be slowed or blocked completely
  • Sudden Death – sometimes this is the first sign of any problems, it can strike at any age, estimated to affect 1%-2% of the HCM population
  • Heart failure –
    • Fluid congestion – heart becomes less effective as a pump resulting in the body trying to compensate for it, clinical symptoms can include shortness of breath and edema
    • Reduced blood flow to the body – isn’t always apparent in the early stages of heart. failure, often unmasked during increases in physical activity.  In advanced heart failure, organs and tissues may not even receive the oxygen required to properly function.  Symptoms can include difficulty exercising, dizziness, increasing fatigue.
  • “Burn Out” or “End Stage” HCM – occurs in about 3% of the HCM population, poorly understood why this happens, similar to dilated cardiomyopathy, heart reaches a point of generalized weakening and thinning (often referred to as remodeling), ejection fraction goes below 45%, often leads to transplant
  • Diastolic Heart Failure – occurs when signs and symptoms of heart failure are present, but the ejection fraction is over 45% but less than 60% (termed preserved heart failure), raises pressure gradient of blood in pulmonary vessels which causes fluid to leak into the pulmonary alveoli causing pulmonary edema, impairs oxygenation of blood in the lungs, causes shortness of breath, can cause death if not treated promptly, managed closely by medications and treatments, can lead to transplant if medications and treatments fail

What can you do?  If you have a family history of sudden unexplained deaths, been told you have an “innocent” murmur, or know that your family has a history of hypertrophic cardiomyopathy, please see a cardiologist well versed in HCM and all its variabilities for a full workup.  The HCMA (4hcm.org) has a list of places that are designated Center of Excellence for HCM on their website.  If at all possible, make an appointment with one of these centers for the most optimal diagnosis and care.  If it is determined you do have HCM, then your first degree relatives need to be screened as well.  Try and do a detailed family tree prior to your appointment, this may help establish history.  But most of all, be an informed patient!!  YOU are your own best advocate!

I wanted to start out this blog by explaining a little bit about my condition.  As I have been symptomatic for over 5 years, a lot of this will be written from my memory.  I will try to be as open and honest as possible.  Please don’t hesitate to ask questions and comment.  I am hoping this will help me get through the next steps in my path towards transplant.

Thank you for joining me on this journey.

Debbie