Cleveland Bound

The day finally arrived for us to leave for Cleveland. To say I was scared, would be a gross understatement! I was terrified! Someone was going to cut into my chest, crack my breastbone and remove a portion of my heart! It wasn’t where I was getting this done, but THAT I was getting it done. Cleveland has an awesome reputation! And the surgeon I would have, is top notch in what he does. Dr Afshar did his fellowship at Cleveland and knew the major players. So this did make both of us feel a bit better.

Lou also had one of his longtime customers living in Cleveland. So, he contacted Gordon to let him know of our plans.

We arrived in Cleveland and was met at the airport by the limo driver. One of the nice things Cleveland does for their myectomy patients, is provide a limo service from the airport to the hotel and then back to the airport when we were ready to leave. We arrived late at night….about 11pm, if memory serves (which has been hit or miss lately!), but our driver was there waiting with a sign with our name. We got loaded into the car and took off. I was so tired by this time! It was about a 20-25 min drive to the hotel. We had booked a room on campus so it would be easier to figure out where we were going in the morning…..my first appointment was at 0730 for bloodwork.

We got to the hotel around 1am, and the driver went in to get us checked in. He came back out to let us know that there had been a mistake and that there were no rooms for us available, and that we were going to be put up for the night in the other campus hotel. So, we drove over there, finally got checked in and I basically crashed. I did remember to set my alarm though! Ughhhhh, 6am came wayyyyy to early! I was exhausted and our day hadn’t even really started yet!

I hopped in the shower, and got cleaned up and dressed, while Lou got our suitcases all packed and ready to go. Although, we had no idea where we were going to be able to leave them, since we were checking out of this hotel. Got downstairs, got the checkout process done, and the front desk staff offered to let us keep our suitcases in their locked room across from the desk. Great! One less thing we were going to have to figure out!

We walked through the skywalk over to the main campus and tried to orient ourselves to where everything was. My schedule that day was very tight. First place we had to find, was the lab…where I would also get a chest xray and ekg. There were people there in red jackets that we found so very helpful! They were able to direct us to all the places we would need for the morning. Luckily, they were all within feet of each other. Bloodwork, ekg and chest xray complete! Now on the get the echo. Got signed in for that, and was able to catch a breather for a few minutes.

After the echo, I would meet with my HCM doc. And then from there, I would meet with the surgeon’s nurse and then finally the surgeon.

I have just got to say, Dr Thamilarasan is a wonderful doctor! He was the one that I was scheduled with to be my hcm doc. I love him! Very soft spoken and so very kind. He took the time to answer all our questions and address our concerns. He also went over the echo results with us…which weren’t very good. But Cleveland Clinic is rated #1 in the world for a reason….they are great at what they do!

We got a break for a while before I was to meet with the nurse. So, we headed to find something to eat, as neither of us had eaten much in the last 2 days. Finally, the time had come to head upstairs and meet with the surgical staff. Gulp!

We met with Dr Smedira’s nurse first. We went over history and medications and kind of paused when I mentioned I was taking turmeric for my arthritis pain. She asked when my last dose had been….I told her that morning. She asked if anyone had told me to stop it….No. Why would I stop it, its the only thing helping with my pain. She said she was pretty sure that it increased bleeding time, and that it should have been stopped about a week ago. She said she would have to get it cleared by the surgeon. I know my jaw dropped. This we were NOT expecting!

Dr Smedira came in a few minutes later and asked me about the turmeric. Then he said something that stopped me cold and I admit, I lost it! He said that I would have to come back in 2 weeks and then they could do the surgery. I told him that if I left, I wasn’t coming back! Nobody had told me anything about stopping drugs! He asked to see the packet that was sent to me. I brought it out and showed him. He looked all through it and said, kind of under his breath, “you would have to be a PhD to understand a lot of this!”. Once he finished looking, he asked if I had received a do and don’t list of medications. I told him what was in that packet is what I had received. It wasn’t in there. He was not happy….and neither was I. I had finally psyched myself up to get this surgery done, and now I am being told I couldn’t….because of some clerical error. Meanwhile, Lou was doing his thing and trying to find a work around. He asked Dr Smedira the bare minimum we would need before he would feel comfortable to do surgery on me….a minimum of 5 days. So Lou got a hold of his brother in Cincinnati and his friend Gordon. Gordon was able to find us a room on the outskirts of Cleveland that offered clinic discounts, and find us a place to rent a car. So, I guess we were going to be able to play tourist for a couple of days. Gordon came and picked us up at the hotel and took us to the other one he had found. Then he took us to pick up the car and we all went out to dinner. Gordon had his wife meet us. What a way to begin this journey!

We spent the next several days doing some sightseeing….which was nice. We were able to go to a park that was right by Lake Erie, took a small train ride and got to see some of the countryside, and we got to visit the Amish country. All in all a nice reprieve. But, all good things come to an end….and the day for my rescheduled surgery was upon us.

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PRE-SURGERY

I had run out of all options. Surgery was the only thing left for me. Dr Afshar and I met to discuss what we needed to do to go forward. I spoke with Lisa at the HCMA. As of right this moment, I was considered a straight forward myectomy case. Myectomy translates literally into removal of heart muscle. I had to make a decision on where and when I wanted to get the surgery. Myectomy is typically not considered an emergent type of surgery, like you would for stents or bypass. So, I had some time to weigh all the options. Everyone felt I would do just fine at IMC, but I had some reservations. I discussed these with Dr Afshar.

First off, myectomies done at high volume centers (meaning they do a lot of them every year) have much better outcomes. Take too little muscle, and you either get no changes or very little changes in improvement. Or, you might become obstructed again. Take too much, and you destroy the heart.

Next, I would be placed in the care of nurses that, quite honestly, did not understand HCM. Remember, I had to do a lot of educating while I was hospitalized just weeks earlier. And I wasn’t too confident in the care I would be receiving.

On the flip side, it was close to home, and I trusted my HCM team. Big decisions to be made. Dr Afshar and I met to discuss and weigh pros and cons. I voiced my reservations, and he totally understood them. Then I looked him in the eye and asked him which he would choose. He said, if it was his sister, he would want her to go to the best facility she could. Cleveland Clinic.

It was decided. Cleveland Clinic was in network for my insurance, and the paperwork was started. I got a phone call a couple of days later to go over my health history. A week later, I was scheduled. I wanted to be able to do as much of the pretesting locally as possible, to help cut the costs of hotels and such while in Cleveland. Cleveland would only allow me to do a right heart cath. All other testing would be done at Cleveland in the 2 days prior to the scheduled surgery. I had 2 months in which to mentally and physically prepare for this invasion. But, I was so looking forward to feeling better!

I got my right heart cath scheduled, and showed up at the appropriate time and place. Light sedation and the doctor was ready to go. About 40 minutes later, I was being wheeled into recovery. They went through my wrist, so I had this funky pressure contraption that had to stay on for about 2 hours to make sure I didn’t bleed all over the place. All I can say, is thank goodness for iphones and ipads! At least I had something to do!

The doctor came in about an hour or so later and started talking to me. I couldn’t quite get what she was saying, so I stopped her. She looked at me and asked if anyone else had spoken to me yet. No, just the nurse that came in periodically to release the pressure on my wrist. She said, you are being admitted. WHATTTTTT?!?!? No, I’m not! Why would I need to be admitted?? She said, there is something else going on and we can’t figure it out yet. We need to do some more testing and contact Cleveland. You no longer have a gradient.

I was flabbergasted. How could I not have a gradient when just a couple of weeks earlier, I was measuring at 70 at rest and 99 provocable. It made no sense. I said, no, I am not being admitted, I’m going home. I need to meet with Dr Afshar and figure out what is going on.

I was finally released, and a followup was scheduled. Later that afternoon, I got a call from Dr Afshar’s partner. She asked if I had ever had problems with oxygenation before. No, not ever. She told me that my sats had fallen drastically during the procedure and that I would need to go on oxygen at night. Can this get any worse?!

So, oxygen was my new friend at bedtime. I met with Dr Afshar, and he told me he was glad I was going to Cleveland. My case had become too complex for them to be able to handle. He had been in touch with Cleveland, and they wanted a specialized echo to confirm their suspicions about what was happening. So, we scheduled an echo for a couple of days later.

The echo confirmed. My mitral valve had pretty much blown up. Which meant repair or replacement. Oh gosh! I had no desire to get a replacement and be on coumadin the rest of my life!!! I was living a nightmare.

I still had not told too many about my condition. I’m a pretty private person. Besides, this was my problem, not anyone else’s . But, I had people start coming up to me asking what was wrong. I kept being told I either looked pale or gray. It was getting to the point, I was scared to drive. I would fall asleep driving. I could not keep my eyes open. Work was hard, too. Again, I had a very difficult time staying awake. So, we modified my work load. I wouldn’t draw, but I would check people in and put their orders into the computer. Ok, fine. I spoke to Lou about my fear of driving. So, for the last couple of weeks leading up to surgery, Lou drove me to work and picked me up at night after work. I typically slept while he drove. I was also falling asleep at the table while working on ebay. This was not a fun time for me.

Because we had no money, it was decided I would fly to Cleveland to get the surgery and then fly back home. Lou would stay to take care of the horses and ebay. Until all this started happening. As I was slowly getting worse, Lou decided he needed to be there with me. So, I called my travel agent to see if she could work a miracle for me. And sure enough, she was able to not only get us another flight out, but Lou was on the same flights as me!

The day had arrived. We were leaving for Cleveland. And, hopefully, I would get my life back!

The Next Two Years

I could not believe the difference in concern and care with my new group! After 2 years of not being heard, I was in tears. Someone was not only listening to me, but actually asking me to take part in my care! Blame was shifting away from me and onto this disease. I was learning more and more about what living with HCM meant for me, my life, and my family. I tried talking to my family and explaining that this was a genetic disease. I even got gene tested…although that came up as inconclusive. Remember, only about 50% of the genes have been identified. So, even though I had a wonderful group of medical providers, I was still hitting a roadblock with my family. Frustrating is an accurate word!

Onward and upward! My whole care plan was adjusted. More testing was done. I found out I was obstructed….which was what was causing the majority of my symptoms. Surgery was discussed, but dismissed (by me!). I was terrified of the thought of having to go through open heart surgery! I started doing more research and I stumbled upon the HCMA Facebook group. What a godsend they were! I admit, I was a lurker for several months before finally posting my first post introducing myself. So many were encouraging and trying to put my fears at ease about surgery.

But, me being me…..I wanted to put it off as long as possible. My doctor, Kia Afshar, told me about a trial they were participating in with a drug called perhexiline. He thought I might be a good candidate. The drug company was trying to determine if this drug could have an impact on exercise capability and tolerance in the obstructed group of HCM. And, as my exercise tolerance had decreased dramatically, I was all for trying. So, I went through the consenting and screening process.

One of the tests that I had to do was called a VO2 Max. I had never heard of it, but apparently its pretty popular with athletes. It measures how well your body utilizes the oxygen it takes in, and how well you recover after exercising. What a fun test! (NOT!) I would tease each time, I felt like a pilot in a fighter jet plane. You wore a contraption similar to their helmets. For this test, I could choose to do treadmill or stationary bike. As a group, we decided the bike would probably be my safest route. Not only did I have to wear this funky mask, but I also had to be hooked up to the monitor. No chance for modesty during any of these tests!

On goes the nose clamp, then a hollow “bite” tube for breathing. Then a pulse ox attached to my brow. All of this held in place by straps that go around my head in various spots. On to the bike I climb.

To do this test, that exertion intensifies at measured intervals. So, every 2 minutes the resistance would increase. I had to keep my “speed” between a certain parameter, I could not close my eyes, and I had to hold on to the bars. My blood pressure would be taken every minute. They wanted me to “go” as long as I could and gave me a number (7 minutes) to shoot for. Nope, didn’t make it! I think I lasted 4 or 5 minutes. I had to wait an hour after this test to do what was called the walk test. How far I could walk in a premeasured distance in 6 minutes. After all of this, I finally got to meet with my doctor.

I was excited and nervous at the same time. Hopefully I would pass the screening process and be put on the study…..and since it was a phase 2, I would be getting study drug! Hopeful was my name!

Dr Afshar came into the conference room and went over the results thus far. EKG, blood work, echo all fit well within the protocol guidelines. Then he started talking about the VO2. He threw out some numbers and then mentioned a word that literally stopped my world. I heard nothing after that.

TRANSPLANT!

Are we talking about me?!?! Transplant? What?

For this particular study, I had to repeat all these tests within 2 weeks and fall within a certain guideline to be enrolled. I decided to use these next couple of weeks to find out more information on what the VO2 results meant. What I found out devastated me. My first VO2 result was 11. Someone for my age and sex, to receive a poor number, was roughly between 27-30 (depends on the chart you look at). Below 12 they start talking transplant.

On to round 2 of testing! Again, after echo, ekg and VO2, I met with Dr Afshar. My VO2 number came back at 9 this time! I could just cry!!! We were thinking that I might be too sick to be enrolled, but all the numbers and tests were sent into the drug company to analyze. I remember, I was really down on myself during this time. Nobody I could really talk to that could truly understand, except the HCM group. I’m sure they were getting sick of my boohooing. But, I honestly had nobody else I could turn to.

I finally heard back from the study coordinators. I was accepted into the study!! I scheduled my first visit, and looked forward to trying a new drug. I so did not want surgery! In the meantime, I met with the EP (the original doctor I had scheduled with) and the genetic counselor. It was decided because of my family history, multiple episodes of NSVT (non sustained V-Tach) and multifocal PVCs, that an ICD would be very appropriate. So, we got that scheduled and I started taking study drug.

Let me digress for just a moment and do some explaining of terminology.

EP – Electrophyisologist (the heart electrician, if you will)

NSVT – Non Sustained Ventricular Tachycardia (a fast heart rate – greater than 100 – that originates in the ventricles) This can be life threatening

PVC – Premature Ventricular Contraction In and of itself, this is a pretty benign arrythymia…we all get them. Kinda feels like a hiccup of the heart. In my case, I have PVCs that originate in different parts of my heart, and a lot of them. Again, all in all, not horrible, but could be a sign of an unstable heart.

For the next 4 months, I took my study drug, in addition to my other drugs, and had my ICD implanted. I was feeling pretty good! I found out that my coordinators had enrolled another fellow hcm’er into the study and he was doing well, too. End of the study came, and time to do the exit testing. I was kind of excited to see how well my numbers increased, since I did feel so much better!

Come to find out, it was a short lived euphoria. My number did go up from 9…..up to 10. I was devastated. The week after my exit testing, the drug company actually pulled the study. They were not getting the numbers they had hoped for. I finished the study, but the other guy in my group did not. But we both agreed we should go to Europe and get some of the drug! (Perhexiline is available in Europe and in Australia).

My next followup appointment with my doctor, we discussed in detail the need to myectomy. But, there was one more option to try. Its a drug called Norpace that has had some positive results for some of those with obstruction. He was willing to give it a shot, but I would have to do an inpatient loading of the drug to make sure I didn’t develop long Q-T. We scheduled a time for me to come in….after work on Friday, and to be discharged on Sunday evening….and a weekend Dr Afshar was on the floor.

Into the hospital I went. Unfortunately, the nursing staff did not know how to “manage” me. I was not their typical heart failure patient, and the doctor allowed me to go anywhere I wanted within the hospital. I just needed to be there to get my drugs, and to do my ekg’s. I even had to educate a couple of the nurses about this disease, as they had never even heard of it! I stayed my weekend, no long Q-T and got discharged. I gave it the old college try, but 7 weeks later, and I noticed no difference in how I felt. The end had come. No more options, except SURGERY!

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…..

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!