Tag: HOCM

Life Happens

Hello everyone! I would like to sincerely thank everyone for their generosity as I traverse this post-transplant life. So much has happened since the last update! During all of the chaos surrounding my very long hospital stay in 2024, I decided to go back to school and get a degree in social work. I am happy to say I have graduated with my bachelor’s degree and will be participating in the commencement ceremony on May 18, 2025! I am graduating with a 3.98 GPA!!

Also, I was able to connect with my donor’s family and have remained in close contact with his mother. Tammy came up here for Erik’s 33rd birthday and we celebrated it together. It was so nice to be able to say thank you in person! It was one of the hardest calls I had to make when I called to tell her that Erik’s heart was failing, but she understood and said Erik would be proud that he bought me 4 years of life.

But I have jumped ahead of myself….

The last update was about the issues I was having with clotting and bleeding at the same time. Although that is mostly resolved (still don’t know why this was happening!), I will still occasionally get a clot despite being on blood thinners and within the parameters I need to be. This has been extremely frustrating for my care team and me. I am still on blood thinners and probably will be for life. At least I have a home INR machine, so I don’t need to travel to get it tested. Last year, in March, I started feeling pretty bad. My CardioMems numbers kept increasing (my Mems unit wasn’t removed with the transplant…thank goodness!). Despite repeated use of diuretics, I could not get the fluid retention under control. Eventually, I landed in my local ER and was life-flighted to Cleveland (for the second time!). This was the end of April of 2024. We eventually discovered that my heart was failing. I was placed in the ICU (those nurses ROCK!!!) for the next 4 months. I was placed on a balloon pump, which ended up getting infected (oh I was so sick! Everyone thought I was going to die), then had a milrinone drip placed once the found out I could not have another balloon pump installed, I was listed at a status 2 with exception with UNOS, and I was going stir crazy!

Unfortunately, since the team did not know what was happening with my heart, they decided to be extra cautious in accepting a new heart. Even though I am AB+ (and can receive anyone’s heart), it was the antibodies they were watching closely. Finally, I was awoken about 0200 on August 21, 2024. I thought my sats had fallen again, but I was surrounded by the night nurses. My nurse had the pleasure of telling me that they had found a heart for me. Tentatively, surgery was scheduled for sometime around noon that day. I quickly called Lou (woke him up), and told him the news. As he was preparing to leave to head up to Cleveland, I was busy “cleaning” my room. A lot of stuff accumulates when you are someplace for 41/2 months! We knew Lou wouldn’t get up there in time to see me off. I did, however, get to “ring the bell”! (couldn’t upload the video, so you get a blurry screenshot LOL)

Of course, me being me, things did not go smoothly. I know bits and pieces. I know that they had to leave my chest open, then they had to go back in the next day because I developed a pericardial tamponade. They cleaned out clots and blood from around the pericardium (this is the sac that surrounds the heart muscle). Then, I still wasn’t responding very well, and they took me back in for an exploratory surgery. What they discovered was that because of all my surgeries, I had developed adhesions (scar tissue) around my inferior vena cava (IVC). They discovered this by ultrasound…I did not have blood flow between my liver and my heart. So, they had to go in and clean this out. (This is so rare that the docs that discovered it asked permission for and received it to publish a case paper in the Ultrasound Journal. The paper has since been published. The fellow who contacted me said that to their knowledge, this has never happened before.) Then, when I was starting to wake up, I was not responding appropriately, nor was I moving my right side. So, they began their stroke protocol procedure. Even though the CT was negative, even today, I am weaker on my right side than I should be.

Then the final blow happened a couple of weeks ago. Over the last couple of years, I have had increasing visual problems….nobody could figure out what was going on. I went to my neuro-opthalmologist’s appointment, and was told I am now legally blind. I still have central vision, but I have lost peripheral vision. That means I am no longer allowed to drive. There goes my independence! This is still so new, I am still processing what this will mean. I do have appointments set up with the Department of Aging and Rehabilitative Services (DARS) and with the Virginia Department for the Blind and Vision Impaired (DBVI) next week. I am hoping that DARS will be able to help me find a job and that DBVI can assist with this, too. I am still planning on getting my master’s in social work and working with the transplant population. In the meantime, the increased financial burden from the second transplant has put us in a pickle. Lou will be 71 next month, and is on social security. And I have been on social security disability for 4 years. Neither of these incomes meets our monthly outlay. I am hoping against hope, there is a job out there that I can do in the interim that will be willing to work with my erratic medical appointment schedule. Thank you all for reading and following my journey.

Thank you again

Debbie

Year One

Wow! Has it already been a year? So very hard to believe. So very much has happened this past year. It’s hard to even know where to start. But, here it goes.

The weekend we were planning on leaving Cleveland, true to form, we had a pretty good snow storm. It wasn’t so much in Cleveland itself, but the whole route coming and going. So, Lou and I decided to play it safe and wait for the middle of the week to attempt this extraction. The weather was calling for sunny days, although a bit cold. But at least the snow on the roads would have a chance to melt making traveling that much safer.

Lou arrived without incident, and we got ready to leave the next morning. We wanted to wait to leave a little bit later in the morning….allowing the sun to come up and continue its melting. We went downstairs for breakfast, and I was able to say goodbye to the staff I had gotten to know over the last month and a half. We got the car loaded, well Lou did, and we were off. I was in awe of the surroundings. The last time I had driven this route, everything was still green and growing! Now, it was covered in snow. I was expecting it, but it was no less shocking to see. The best part? I got to drive!! I know, I know….big deal. It was to me. I wasn’t allowed to even be able to sit in the front seat for the first 6 weeks, to allow my sternum to heal somewhat. And this was beyond the 6 week time constraint, so I drove!

We finally made it home that night. I was ready to crash. We got the important stuff out of the car and would deal with the rest in the morning after we both got some sleep. We got up the next morning and began the day. I still had to do a lot of resting, still trying to build up stamina and energy levels. But, I’ve been told, and found it’s true….this is a marathon not a sprint.

I had calls to make, and appointments to schedule. I needed to get set up with local cardiac rehab. I didn’t want to loose the momentum I had built up with Cleveland. I also needed to schedule an appointment with my GP. So very much to do. And we were going to be headed back to Cleveland in a week and a half for another biopsy.

I finally got a hold of someone at a local cardiac rehab facility and scheduled an appointment for my intake. This would take place just a couple of days before we would be leaving, so would work out perfectly. I was also able to get in to see my GP before leaving. All moving in the right direction!

Honestly, I was not very impressed with my local cardiac rehab team. I was comparing them to the program at Cleveland, and they were sorely lacking. As I as the “youngster” in the room, they didn’t really pay much attention to me. I wasn’t given set goals, nor was I given any type of agenda. I basically did my own thing. Which, I guess, is ok. I was just disappointed in how apathetic they seemed to be, just because I was “young” and didn’t have a heart attack. Different strokes, I reckon! And all this after waiting almost 2 weeks to get in to my first session!! It had to be approved by “their” cardiologist. Even though Cleveland had sent them extensive notes on what I had been doing with them….both inpatient and outpatient. Oh well, at least I was doing something.

Then I left for Cleveland, got my biopsy and labs done. All looked good. Biopsy report showed 1R, so no new treatment regimen. And once again, homeward bound. The following week I would follow up with my local heart failure doctor. I had been in communication with him. Let him know everything result wise. This would be my first visit with him after transplant.

Talk about crap hitting the fan! I went in to my appointment with Dr Baran. Now, I had been in contact with my pulmonologist and heart failure doctor at Cleveland, as my oxygen sats were once again dropping at night. I was thinking it still had to do with the paralyzed diaphragm. Dr Baran’s post transplant nurse came out to the waiting room and grabbed me. Sat me down in the room and asked lots of questions, updated medical history and drug list. All of this took a good while, as all my medications had changed. Then she took my vitals. Oops, wrong move! I was satting at 88% on room air. She wasn’t happy about that. I told her I had been in contact with both Dr Aboussuan (pulm) and Dr Tang (HF), and that they were still thinking it had to do with my diaphragm and that I was working on the exercises Dr Aboussuan had given me. So, Cleveland was very aware. I also gave her the reports and results from my visit to Cleveland the week before. She turned back to look at me, and said “we’ll see what Dr Baran says when he comes in here.” And she left the room.

A few minutes later, Dr Baran walks in, asks how I’m doing….I tell him, and says I am admitting you. WHAT?!?!?! Ummm, no. I have appointments later today. He says yes you do, with the ER. He brought his nurse back in to the room, and asked her to take me down to the ER and wait there with me until they got me into a room. She was not to leave until that point. (See, Dr Baran knows me way too well! He knew I’d sneak off.)

I was so mad! I didn’t need admitting! I just needed to go home and rest. I remember being admitted into the ER and I remember going into a room having an IV placed and blood drawn. I also remember later that night being taken into the cath lab for an emergency biopsy and right heart cath. I remember Dr Baran coming in to do the procedure and I remember him talking about putting me on ECMO. I quite honestly don’t remember much beyond that. I honestly don’t even know if I was taken to the cath lab from a room, or the ER.

Pretty much the month of March is a big blur to me. I don’t know if what I was seeing and hearing were real, or part of the ICU delirium. What I know came from Lou and a few other people.

I crashed later that night. And I crashed hard! I was placed on ECMO and had a balloon pump inserted. I was in cardiogenic shock, but they could find no definitive answers as to why. I wasn’t in rejection, my right heart cath showed some elevation in pressures, but not horrible. Blood work showed my rejection medication levels were fine, and that I wasn’t in DIC (disseminated intravascular coagulation). Most everything was coming back fine. Still no real answers. So, this all happened on March 2nd. My local team was in constant communication with Cleveland trying to get me stabilized and figured out. By the 4th, one of the local heart failure docs came out to talk with Lou. Basically, he came out to say that they had done everything they could, but they were still loosing me. Cleveland requested for them to get me packaged up and prepare for their team to come get me and transport back to them. Dang it! I missed my second jet ride!! I know it took the locals a while to get me packaged, but finally, the jet was here, I had a team of 5 doctors to transport me, including my transplant surgeon, and off we went.

I know that for the next 2 weeks, I was in an induced coma, still on ECMO and the balloon pump. And I know it was touch and go there for a while. I know Lou had to call my GP and talk to him about switching me to a trach, as they don’t want to leave the endotracheal tube in past 10 days. I know that the nurses would bring me out of the coma to make sure I was still “in there”. Some of this, I have recollection of. But again, I have no idea if real or imagined.

Slowly, very slowly, I started kind of improving. I wasn’t totally out of the woods, but there was a collective sigh of relief. They brought me out of the coma, and left me out. I did still have the trach in, and I still wasn’t doing well, but I was alive. By this time, Lou had gone home. He wasn’t allowed in the ICU, and there was really nothing for him to do except wander the halls and wait to hear word. So, he decided to head back home. Once I was out of the coma, I could facetime with him. I couldn’t talk, but could nod and shake my head. Even that was a chore for me. But, at least we could see each other.

Lou did an awesome job of updating people on his facebook page, and the transplant and hcm pages. He didn’t hold anything back, nor did he sugar coat. He told it like it was. I reckon it scared some people. But there were others that were anxiously awaiting daily updates. I was still in the ICU. I know they had me on heparin, as the ECMO caused blood clots to develop. Problem was, even though I had and was still developing clots, I was bleeding at the same time. Again, nothing really abnormal in my labs. Nobody could figure out what was going on. I remember one time, I threw up a huge blood clot. I was still on IV heparin. And every time I would suction, I was suctioning up fresh blood. Bleeding and clotting at the same time.

Eventually, I was stable enough to get transferred to the transplant floor. I was so shocked at how weak I was. My legs and arms looked like toothpicks. I had lost all of my muscle mass. Just before I got moved, the ICU staff wanted to switch me to a drug called Eliquis and get me off the IV heparin. I was taking oral medications and doing fairly well with it, so we switched. I got up to the 8th floor, and got to see all my nursing friends. I was happy about that!

Then, we got more good news! Cleveland had opened up the transplant floor for one visitor. I called Lou and told him. He made plans to head up for that coming weekend (Easter weekend). We were both very excited. We hadn’t seen each other in over a month. And a scary month it had been!

Lou got up there and I was able to introduce him to some of my favorite nurses. As it was the weekend, it was fairly quiet, so we got to spend a lot of time together. Lou was shocked to see my legs! He couldn’t believe how much they had atrophied in a months time. I had already started working with both occupational and physical therapy, so I was starting to try and get some musculature back. Boy, was it tough!! I was also trying to do some massage therapy on my legs and feet. I had developed some peripheral neuropathy after the transplant that had gotten some better, but this crash and my month long ICU stay made it worse.

That Monday, Lou was getting ready to head home, and he volunteered to rub my legs for me before he took off. Oh, did it ever feel good! On my left leg. Then he got to my right leg. He got to one part and OUCH! that hurt! I felt the area, and noticed a couple of bumps. My nurse walks in about that time with my drugs and I tell her about it. She looks and feels, and she does see the bumps. She noted it in my chart. Said we would keep an eye on it and to let her know if it got any worse. Lou then got ready to leave. It had been nice having him there!

Later that night, the oncoming nurse asked about my pain. It was still there, it still hurt, but hadn’t changed much. The next day, I said something to Emily, the NP covering the floor. She suggested trying some ice. I also asked if I could try some capsaicin to see if that would help. She got that ordered and also ordered an xray. When PT came in a bit later, I noticed my toes were now starting to drag when I walked. And my leg was really starting to hurt more. Xray results came back….no breaks.

Wednesday, and pain only increasing. Nothing was touching it. I now had 4 lumps where it was painful. So, they did another ultrasound to check for more clots. Nothing new on my right leg, but they did discover some new clots in my left leg in addition to what was already there and a couple of other fun features. One was a pseudoaneurysm in my left groin and the other was an AV fistula. Both caused by the ECMO cannulation. Nothing really concerning at this point.

Thursday, Emily came in and said everything was in place for me to be moved to Avon Acute Rehab facility. They weren’t concerned with my leg thinking it just muscle soreness since I had been up and trying to walk. So, that evening, I got to take an ambulance ride to Avon. As I got settled in to my new room, the nurse and I went over some of my medical history. And I told her about my leg pain. She, too, was able to feel and see the 4 bumps on my leg. She checked pedal pulses, all good. Then I got settled in for the evening and night. The next day, I began my rehab.

I honestly wasn’t able to do much between the pain and also not knowing why I had the pain. Plus, my toes were really dragging by this point. The doctor that had come in that morning was not the caring type….guess a good way to put it. He came in and slapped on my lower right leg. I flew out of bed! Oh, it hurt so bad! But again, nothing extra was done. So, I spent my Friday doing a little bit of rehab, but pretty much staying in my room.

Saturday, and the oncall doc came in to do her rounds. We talked about a few things and she asked if there were anything else concerning me. I told her about my leg. She told me she would look at the imaging that had already been done and see if there was something else she could do. A couple of hours later, my nurse came in and told me that I was going over to the Avon Hospital for a CT scan of my lower legs. About 1/2 hour later, the ambulance crew shows up and takes me over there. The CT only took a few minutes, then I was heading back to the rehab facility. By the time I had gotten settled back into bed, I got notification of new test results. I opened it up, and sure enough, me CT results had come back. The more I read, the paler I became. My nurse was still in the room, and I asked her to read and confirm what I was seeing. Yup, I had an active bleed into my right calf. Compartment syndrome! Oh gosh! I knew what that meant! I knew that Avon couldn’t handle this type of complication, so I asked if I was going back to main campus. I was, just didn’t know when.

Neither one of us heard anything more that night. The next day, Saturday, my nurse comes in. And I tell her to look at my foot. My foot has now turned purple. She leaves the room to call the doc (different than the day before) and to find out when I was to be transferred. I pretty much stayed where I was until about 4 that afternoon. By the time I got back to the main campus, it was late and I had no idea what the next steps would be. I was on the phone with Lou when vascular medicine walked in. He asked a few questions, then pulled no punches. He told us both, that had this been taken care of Monday, all would have been fine. As it was now, he wouldn’t know until he got in there whether or not my leg could even be saved. And he said, if they could save my leg, chances are, I would very likely be permanently handicapped. I was flipping out and crying, Lou was asking if he should head up. The doctor said yes, head up now.

I was then taken into the OR for an emergency fasciotomy, not knowing if I would wake up with a leg or a missing lower leg…..

Month Two

Yesterday marked two months with my remarkable new heart. It has been a time of trial and error; tests, tests and more test; a time for new goals and achievements. This has also been a time of a lot of ups and downs. Thankfully, mostly ups.

I was able to begin a formal outpatient rehab program! That was exciting for me, as anytime I exerted with my old heart, I would go into even more arrhythmias than normal. So being able to be monitored while exerting helps reset my mindset. It has been so very nice watching the monitor and just seeing sinus tach and not tons of multifocal pvc’s! Today at the red center here in the hotel, I was able to go 42 minutes and peddled 7.4 miles. Doesn’t sound like much, does it. But considering 2 months ago, I had a hard time walking to the mailbox without stopping several times, it’s a huge improvement. I go go outpatient rehab m-w-f and still go to inpatient on Tuesday and Thursday. It forces me to get out every day. I am now walking to and from the hospital before and after my appointments. Again, it’s not a huge distance, but it is more than I would have been able to do before. THANK YOU DONOR!

I also had my fifth and sixth biopsies. So far, all my results have been 1r. So low grade infection that will continued to be monitored, but no changes in my medication routine. I have had weekly blood work. Unfortunately, we have had to do some constant adjustments with my tacrolimus, as my levels continue to jump all over the place. I’ve been told that this is very normal as my body adjusts to my new heart and my body settles in with the new drugs. Because of the high dose of prednisone and tacrolimus, I do have the shakes. It especially rears it’s head when I use fine motor skills. Trying to drink from a glass or write anything with a pen has been challenging, to say the least. I’ve been told, it will improve as I start decreasing the prednisone. And hopefully, that will happen next month when I come in for my next biopsy. I can just see myself standing in front of a patient to draw them, and my hand shaking holding the needle!

During this past month, I also met with a few new team members. I added a sleep disorder doc and a pulmonologist to my ever growing list of specialists. I pushed for both, as I’m still having problems with my lungs and my sats dropping,especially at night and when I am under exertion. I will be doing another sleep study this coming week (so not looking forward to that!). So will see what those results will show. Did I get rid of the central sleep apnea as my heart failure doc was hoping? Luckily, the testing will be done here at the hotel I am staying at, but up one more floor. So at least I won’t have to travel far, nor figure out how to get there! Sleep continues to elude me….whether from drugs or breathing issues, I guess we’ll find out next week.

I also met with the pulmonologist last week. He ordered some breathing test to measure my lung capacity. Good news is, I’m not making things up! Bad news is, I have a paralyzed left diaphragm. It has actually caused my breathing tests to be about 40% less than they were 18 months ago when I was testing to get listed. Also, when I lay flat, my numbers are greater than 25% less than when I am sitting. Not good for either. I know for any open heart procedure, they must cut the phrenic nerve (the nerve that works the diaphragm), and this is my second open heart surgery. So I asked if this could be the issue. He said more than likely. However, I was having issues with my sats dropping starting about 6 weeks before I got my call. Since I never had the appointment with a pulmonologist before transplant, we don’t know the reason. It could have just simply been that my heart was failing faster than we thought and with my blood pressure being so low, I just wasn’t being perfused appropriately. We may never know. He did have me meet with a respiratory therapist to give me a new little toy to play with. This one is called an inspiratory muscle trainer. It is supposed to help strengthen the surrounding muscles to help with breathing. Kind of assisting the diaphragm in its job, as it hopefully begins to recover. I asked if this was a common occurrence after open heart. He says for him it is, but this is what he does, so he sees a lot of it. But, in the overall scheme of things with all the surgeries done, it’s relatively rare. Lucky me! He did say to continue with rehab, as movement will definitely help.

So, as of right now, I am scheduled to go home next weekend..lord willing and the creek don’t rise! But of course, long term weather shows that there is supposed to be a huge winter storm hitting pretty much our whole route home!

Lou has been working hard on getting the house as germ free ready as possible. He will be working with a plumber next week to get a UV water filtration system installed, as we are on well water and cannot guarantee how safe the well water is. Even taking a shower could be hazardous for me at this juncture. He converted our covered back porch into a temporary storage area, later to be our eBay room. And yesterday, we got a new washer delivered. Our old one was about 15 years old, and had some mold around the gasket. Lots of changes and lots to learn!

Thank you to donors and their families everywhere! Especially thankful for my donor and their family as they go through this year of firsts.

Month One

One month, 4 weeks, 28 days.

Doesn’t seem like much, does it. But this has been a very special month for me.

November 25 started out as any normal day for me. I got up, went to work, headed home and began to prep for Thanksgiving the next day. I got my turkey breast out of its brine bath, made the cranberry sauce and then made some homemade eggnog. It was just going to be a quiet day, just the two of us.

However, the universe had other plans.

I finally finished cleaning up and headed back to the bedroom to get ready for bed. About 930 my phone rang. It was from a 216 area code….Cleveland, so I answered the phone. It was Jocelyn from the pretransplant team. I didn’t think much of it, because I had put a call into them the day before. We began talking. Jocelyn asked how I was doing, then started asking me all kinds of covid type questions. Again, didn’t think much of it, as everyone was asking these type of questions anymore.

Then…….

“You are probably wondering why I am asking all these questions.” Yeah, kinda. I told her I had called the day before with some questions and I just assumed that was why she was calling. Then the bomb dropped….

Jocelyn said, “I am calling to let you know, we have found a heart for you. I need to find out if you would like it. Dr Smedira has looked over the donor heart, and it is a perfect fit for you. Are you interested?”

I’m sure if anyone would have done a video of me at that moment, I would have looked like a fish out of water. I had been waiting so long, and didn’t think I would ever get this call. I was in shock. I finally croaked out, “yes, yes I want it!” Jocelyn told me to keep my phone line open, as she would start putting my flight plan in place. Once she got it all in together, she would call me with the time to be at the airport. She then said, “I know it’s hard, but try to get some rest. This will be a long night for you.” We hung up, and I ran out of the room to find Lou.

Lou was out on the side porch talking with Louis. I frantically gestured to him to come in. He finally saw me and poked his head in the door. He saw my face and asked what was wrong. I told him “ Cleveland just called, they have a heart for me!” He told Louis he would need to call him back.

So much going through both of our minds! I thought I was prepared for this call. I quickly found out otherwise. I quickly told Lou what Jocelyn had told me. We both thought it serendipitous that Dr Smedira was the one to approve this heart for me, as he was my surgeon for my myectomy. There was so much to do and very little time to do it in.

Both of us got on the phone to get things in place. Luckily, we were able to get a hold of Susan. She told us to not worry about the animals, her and her family had it covered. I called my mother, Lou called Louis back, as we began the process of preparing to leave. My mind was still scrambled. I could not wrap my head around the fact that I would be getting a new heart. At the same time, I was saddened that another family was going to be going through this holiday season without their loved one. It would be a start of firsts for them.

Lou and I finally got calls, texts and messages done for now. I still hadn’t heard back from Jocelyn, and it was coming on midnight. We both decided to try to lay down for a bit, as we knew the next several days were going to be busy and without much rest. Of course, intentions were good, but neither one of us could settle our minds enough to really rest.

I finally got a phone call from Jocelyn about 1am. Unfortunately, it wasn’t with flight information. She called to let me know that nobody had been able to get ahold of Suffolk airport. Now mind you, I had spoken to them 15 months earlier, and was assured they were there 24/7/365. This was also confirmed by Cleveland clinic transplant team. After numerous attempts and messages and no response, Jocelyn was trying to find another airport. We finally decided on Franklin airport. It was about 20 miles away, but still well within reason for travel. I got a phone call back about 15 minutes later. All was set for Franklin for a 4am landing and pickup. Jocelyn texted me all the pertinent info and Lou and I began the final preparations to leave.

We got on the road, and headed into Franklin. As we got closer, we noticed how dark everything was. Since neither of us had been to this particular airport, we weren’t sure exactly where we were going. I put a quick call into Trev, the guy that was opening the airport for us. He told us where to go and where we could park our car. We both got into the lounge and gave our heartfelt thanks to Trev. He had the radio on, so we could hear the jet as they were approaching the airport. We went outside to watch as the circled and landed.

My flight

The pilot got out and took our suitcases. Trev offered to fuel them up, which they declined. As we were getting on the jet, the pilot asked Trev how much for the airport fee. Trev refused to take any money from them. He wished us well, and we were off. I tell ya, I could really get used to private jet flying! We made it to Cleveland in about 55 minutes. We went up to about 48,000 feet and traveling about 550mph!

We arrived at the small Cleveland airport about 15 minutes for the hospital. A security officer was there waiting for us. He got us to the hospital and we headed up to the 5th floor to get checked in. Lou was able to go in with me for a while. But we both knew, once I got my covid test, he would have to leave, and we wouldn’t be able to see each other again. I got into my room, the nurse came in and got me hooked up to the monitor. So much happened in that first hour….plus I got there just before shift change. So very busy up front. Lou was able to spend a couple of hours with me, then he had to leave. The nurse came back in to do my covid test. From that moment on, I was considered to be in a covid cold unit.

Luckily, we were still able to talk on the phone. During all this, we were trying to get Lou set up in the hotel. It was difficult, since it was thanksgiving day, and the person we needed to speak with wasn’t available. We reached out to the pretransplant team for assistance. They reached out to the nurse case manager and the social worker. Finally Lou had a room secured. I still hadn’t heard when I was supposed to be taken into the OR, but that all was still a go. This whole time, I kept having to silence my monitor. As I was pretty much in bigeminy all the time, my monitors alarms kept going off every 4 minutes. I thought it was pretty hilarious. I had been dealing with this for so long, I was used to it. But it was nice having concrete verification!

While in holding in preop.

I had doctors and nurses coming in and out all the time. Blood work, and more blood work. IVs placed, questions asked and answered. Lungs and heart listened to. Then an anesthesiology fellow came in to place an art line.

My covid test came back negative, now all we needed was an OR time. We had been hearing through the grapevine, I would be going into surgery at 11pm. But nobody had been able to verify yet. Finally around 10pm, we got confirmation. And it got busy once more. At 1045pm, the OR team came to get me. I was wheeled into the OR, started getting prepped, and before I was fully placed under anesthesia, I asked once more to have someone get a picture of my native heart.

Then I was gone……

Cleveland Revisited

The day had come to head back to Cleveland.  Lou had arranged his travels, so he would be in Cincinnati the day I would leave for Cleveland.  He would drive up and pick me up at the airport and go with me to the appointments the next day.

I finally finished my day at work and rushed home to get my bag, change clothes and pick up Robin. She would be dropping me off at the airport and picking me up the next evening. Rush, rush, rush.

We pulled up at the drop off spot at the airport and I made my way to the ticket counter to get checked in. All went smoothly at check in and through security. I got to my terminal and had a chance to catch my breath and wait for the plane to come in. I finally got on the plane and in my seat. The flight was uneventful and I arrived in Cleveland late that night. Lou was there waiting and we got on the road for the 25 miles into the city and the hotel where we would be staying that night. We checked in and arranged for an early morning shuttle to the hospital.

Morning came quickly, as we were both very tired and anxious to get answers. The shuttle driver dropped us off at the front entrance, and I went in to get checked in at the lab. Dr Thamilarasan had ordered more blood work, ekg and chest xray. I finished all of that and headed down to get my echo done.

The echo lasted a very long time….even longer than normal, as Dr Tham wanted to get extra pictures of what was going on with my heart. After the echo was complete, I checked in for my visit with Dr Tham.

I was called back and vitals and history were taken. We also went over all my medications. I gave the nurse all the copies of labs, xrays, echos, ekgs and visits since I was last there 7 months ago, including my latest echo done at UVa. Dr Thamalarasan came into the room 15 or so minutes later. he was very kind and polite as he always is, but he didn’t sugar coat anything. He told us my heart was failing, my EF was still down around 25% and that I needed to see the heart failure team. He mentioned the “T” word again. He also told us he wanted to admit me and get more tests done….namely a TEE to see what else was going on. Of course I told him I was scheduled to fly home after my appointments that day. He just said lets see what Heart Failure tells me.

So, with my head still reeling, we make our way up two floors to see yet another doctor….one specializing in heart failure.

Dr Thamalarasan had set up this appointment with Dr Wilson Tang. I was called back into the exam room by the nurse, vitals and history taken. And then a heart failure fellow came in. She spent about 45 minutes in there with us asking questions, answering questions and getting to know me and my history. She then told us she was going to go out and speak with Dr Tang and that they would be back in shortly.

Soon, there was a knock on the door, and Dr Tang came in followed by the fellow. We went over the same ground and then he told us that I needed to be admitted, I needed to get a right heart cath done, I needed to do another metabolic stress test and I needed to meet with EP.

I’m like….whoa! I have a flight to catch in a few hours, and I’m scheduled back to work tomorrow! Dr Tang took this all in stride and said, that’s fine…then you will need to come back within the month and get this all done. But, he did want me to meet with the EP that afternoon before I left. He had already had it arranged. He also said that my heart had become stiff and that I would be needing a transplant. He adjusted a lot of my medications…took me off of some and added others. He explained, its a balancing act at this point. Either extreme, too much or too little, would cause even more heart failure symptoms. So, we would try this new medication regimen. Dr Tang spent over an hour with us. He had us plenty scared. Lou asked some questions, but mainly, if I were to stay 1) could it be done as outpatient, and 2) when could we start and how long would it take. Yes, all could be done as an outpatient and the EP he had in mind wanted to do some more invasive tests as well. It would depend on what he told us and what he wanted to do. So, off we went to the next appointment….the EP.

So, down we go one floor to the EP department. I get called back into the room and first get my device interrogated. Then I get put into a room. Yet another time that day, we go over my history and problems. The nurse leaves and a few minutes later, Dr Bhargava walks in and introduces himself to us. More questions and answers between us, and then he gets down to business. His feeling after looking at my echo, is that the myectomy caused a complete left bundle branch block (very common post a well executed myectomy) and that my heart just couldn’t compensate. He said I have an asynchronous left ventricle….meaning my left and right ventricles (bottom chambers of the heart) weren’t beating in synch, which is, what he felt, causing the lowering EF. His suggestion was to put in an upgrade to the ICD I already had in place. Essentially, he would add a 3rd lead into my left ventricle and pace both ventricles as close to 100% as possible. He also wanted to a procedure to make sure that my arteries were clean and that he would be able to thread the new lead in without issues.

I put a call into my supervisor, and she was very sympathetic and accommodating. So all of these additional tests were scheduled for that week. Lou and I were able to escape back to the hotel to try and organize our thoughts with these new developments. My mind was certainly reeling!

The new tests were scheduled quickly. Although, I would need to be off my coumadin for several days for a couple of them….those tests were scheduled for later in the week. So, another week of fun filled testing in my future! Yippee!

I got the tests done, and it was decided that I would be a great candidate for a BI-V upgrade. It was hoped that the Bi-V would help me keep my heart for as long as possible (a transplant has a shelf life), or even help prevent that from ever happening! The implant was to be scheduled for about 5 weeks later, the first opening Dr Bhargava had in his schedule. My other tests showed what we already knew. My heart had stiffened, my mitral valve was still leaking mildly, and that my aortic valve had started leaking. So, the race was on trying to preserve my heart for as long as possible.

The fun just never stops!

Discharge

“Free at last, free at last! Thank God Almighty, we are free at last!”

Famous quote by Martin Luther King, Jr. And yes, I was saying this over and over in my head. Agie had already come in to boot me out of the door. All we were waiting for were the orders and the nurse to come and discharge me. I had a couple of prescriptions, but the pharmacy had already filled them and brought them up to me. I always feel like a caged animal when I am in the hospital, so the seconds ticked by like hours waiting and waiting. Finally, the nurse came in with the discharge papers. We would be flying out Sunday (this was Friday late morning). The ombudsman office had already arranged for transport to the hotel. It was just a couple of miles up the road, so wouldn’t take too long to get there.

As is protocol, I was wheeled down to the first floor for checkout and to pick up the shuttle bus. We got downstairs, and I started feeling “off”. I didn’t say anything, I just figured it was because I was tired after the morning rush around and getting to leave. So, we got into the shuttle bus, and I began to have cold sweats. Again, I figured it was because of the hustle of the morning and just 4 days out of open heart surgery. So, again, didn’t say anything. (Yeah, don’t be like me!)

We got to the hotel room about 20 minutes later. I went to sit down, while Lou checked us in. It was an older hotel with very small elevators. We were up on the 5th floor. So, up we went. By this time, I was in horrible shape. I went to lay down on one of the beds. I asked Lou to turn on the air conditioner, as I was sweating profusely. I also hadn’t had any of my drugs since earlier that morning, so Lou offered to go find me some Tylenol. I had pretty much stripped down to my camisol and underpants. I couldn’t stand the heat. I just lay on the bed waiting for the air to finally cool the room.

Lou got back about 10 minutes later…he had to go down the block to a drugstore to get me some Tylenol. He shook out a couple and got me some water. He asked if I was doing ok. I told him what was going on, and that my heart rate was pretty high, because I couldn’t count it. He asked if he needed to call EMS. I said no at that point, I just needed to rest.

About 5 minutes later, I started screaming. Lou had no idea what was going on. I had just gotten my first ever shock from my ICD. Oh CRAP! Not only one shock, but continuously shocked. Lou was freaking out, I was screaming “Make it stop, make it stop! Oh, please just make it stop!”

Lou called 911, and sat on the bed next to me and put an arm around my shoulder, and I got shocked again. Lou was on the phone with dispatch, and she was asking too many questions. He was getting frustrated, I was getting shocked and I just screamed to her to get the paramedics here and stop me getting nailed! (I don’t think I said it that nicely, however.)

The paramedics got there finally, and hooked me up to the monitor. I could see my rhythm going across the screen. It appeared to be VTach (ventricular tachycardia). I knew my parameters for my ICD were set to deliver therapy (shock) at 200 bpm (beats per minute) and I was nearing that threshold again. I screamed at the paramedics to get a line in me and give me some lidocaine, as I was going to be shocked again. They got me on the gurney and then the fun began. Remember, old hotel, very small elevators….they had to figure out how to get me, the gurney, the equipment and the paramedics down in the elevator. Not sure how they did it, but I was finally in the ambulance.

One paramedic was trying to start an IV in my left arm, and the other was sitting on the jump seat watching the monitor and calling the Cleveland Clinic ER. I was watching the monitor, too…and could see I was nearing the threshold again. I know I shouldn’t have, but I yelled at the medic putting in the IV to hurry and if he couldn’t do it, to give it to me so I could. Then I got shocked. He yelled at me to hold still. I looked at him, and said, “I just got shocked!! How do you expect me to hold still!! Now, get it in me!” Finally, the other medic grabbed some stuff and got an IV in my right arm and off we went back to the place I had left only 45 minutes earlier.

We arrived at the ER in moments, got placed into a trauma room and in comes the whole ER team. Things began to happen quickly. Quite honestly, most of this whole time is a blur. I am pretty sure they sedated me. The next thing I can fully remember, I was being transported to a room. This time on the 6th floor. Lou filled me in on some of the stuff that happened. I had to be cardioverted 3 times before my heart finally went back into a normal sinus rhythm and stay there. Then, we had to wait for a bed to open up before they could transfer me to the floor.

I was devastated! I got up to the floor just right before shift change, so again, a lot going on in a short amount of time. I had no idea what had happened, nor why it happened…..and nobody could answer my questions. This was now about 6pm or so. Around 7pm, my night nurse came in to introduce herself. Maria was the best!

At this point, I still had no idea what happened. I kept asking, but nobody could answer. I also asked for some more Tylenol. Hello, pain, open heart surgery 4 days ago! Maria told me not only were there no orders for Tylenol in my chart, but there were no medication orders at all! WHAT?!?! So, she sent a message to the on call provider and we waited for his response. By 1030 pm, we still had heard nothing. And I still had no idea what had happened. I lost it. I bawled my eyes out. I mean, why me? What the heck did I do wrong to cause this? I was fine this morning! Maria came back in and tried to soothe me as best she could. She was getting frustrated, too. She still had not heard anything from anybody.

Finally about 11pm the EP (electrophysiolgy) fellow came in to my room. He did a quick interrogation of my device. He said, “I heard you had a little bit of a problem earlier today.” He asked me how many times I had been shocked. I told him I didn’t know, as I wasn’t too focused on counting them at the time, but I figured around 25. Lou guestimated about 10-15. The fellow looked and counted, and he said you were shocked 26 times in about 1/2 hour time frame…..and all of them were inappropriate. (meaning I was not in a “shockable” rhythm)

I finally had a name to my rhythm abnormality…..Rapid Atrial Fibrillation with Rapid Ventricular Response. This is also the rhythm I was in when this journey first began, but again, nobody told me. All I had been told is that I was in Afib.

He also told me it was nothing I had done that caused this. Sometimes it happens after surgeons go playing around with the heart. He said they were going to keep me for 4 additional days and do a loading dose of an antiarrhythmic called Sotolol. And that they were going to increase on of my medications that had just been decreased called Metroprolol (helps slow down heart rate). The fellow left and Maria came back in. I told her what transpired and asked if she had heard anything from the on call doc…..nope. But that she was still trying to get a hold of him and she was documenting everything. I also asked if there were any orders for blood work in the morning….again, nope. I was shocked. I would think at least they would want to make sure my potassium was holding steady. My labs the previous morning showed all looked good, but my labs from the ER visit showed my potassium level had dropped below normal. Plus, I was still anemic from the surgery. I was getting mad, and Maria was getting upset. But she was doing all she could do at this point.

I will continue the saga another day, but I will tell you, getting shocked was no walk in the park. It feels as if a horse is kicking you from inside your chest. Lou even felt some of the shocks when he was holding on to me. It was terrifying. And it is something I hope to never repeat again!

Surgery & Post Surgery

It was here. Gulp!

I had to make a phone call the night before my surgery to learn of my scheduled time. I was first on the docket and had to arrive at the clinic by 0530.

After my phone call, Lou and I went down the street to a local diner and had a “last” meal. Between my nerves and my disease progression, I just couldn’t eat much at all. Back to the room we went. I was given instructions to shower the night before and day of surgery with a special antiseptic soap. So, I did that, and we settled in for a long night of waiting.

The morning came quickly with the night dragging on for ever. (Explain that one!) But arrive, it did. Another shower and dressed, and we were out the door and on the way to Cleveland. Gordon would meet Lou there that morning so that he could return the rental car. I got all checked in and then was instructed to go to the surgical suite. Signed in there and sat in the waiting room until I was called back to get prepped. I was terrified and excited all at once. I was anxious to finally start feeling human again!

Prep took about 1/2 hour or so, and then Lou was allowed to come back and wait with me. We were there for about 15-20 minutes before the entire OR crew came in for their “huddle”. This is where they get together with the patient and confirm demographics, patient and procedure. This is also where the attending surgeon can either confirm the procedure and route of going or sometimes, even do some minor changes in technique. All confirmed, and it was time for me to be wheeled into the surgical suite.

I remember, it was so very cold in the room. I spoke briefly with one of the surgical interns (he was going to be assisting in the surgery) and I remember asking him to take pictures. Unfortunately, that didn’t happen, darn it! But that is about the last thing I remember until I was waking up in the ICU.

Oh my, was I in pain! And not my chest, but my back! It was in horrible spasms! I was extubated and I remember trying to roll over onto my side. All of this is fuzzy, but I do know they finally allowed me to get off the bed and into the chair that was in the room. This is where I stayed for the next day and a half.

Blood, blood, blood. It seemed as if they were drawing blood every 5 minutes. Luckily, they were able to get it out of the arterial line that was still in my neck. I remember the room was so bright. Lights on all over the place. And it was so very loud. Lots and lots going on all the time. I know that they kept me in the ICU a little bit longer than normal, because they couldn’t control my blood pressure. I wasn’t sleeping (how can anyone with all the lights and noise!). But I do remember one time my second night there, where I was finally able to catnap.

One of the side affects of one of the drugs I take, is night terrors. Lou calls them my screaming mimi’s. I don’t get them frequently, but I do get them. So, I remember during my catnap, I started screaming. The nurses came running in and woke me and decided I had had a bit too much pain medication (the button was in my lap), even though I hadn’t pushed the button in hours. So, that was taken away from me. And I heard them laughing and saying I was gorked out of my mind as they were walking away from me. I then remember I started crying. I was overwhelmed and discouraged. I just wanted to get out of there and get home.

Finally, the next day, I was able to be moved into the step down unit. Yeah for me! My blood pressure was doing much better, my heart rate and rhythm was looking good and I was able to keep down a couple of peaches.

It was nice being in a regular room. Of course it was busy during the transition, but finally…peace and quiet. I was finally able to actually try and get some rest. I didn’t have to worry about trying to get up (I still had the foley catheter in) and I couldn’t anyway. At least not without help. They had the bed alarm on. I didn’t realize it, and of course, I tried to get up on my own! Oops!

Life kinda started settling down a bit. As much as it can settle while in a hospital, anyway. I had a great team of nurses, and I absolutely loved the Surgical Nurse Practitioner that took over my care while on the floor…..Agie Stimjanin. He was great! Very attentive and welcoming. It made being there so much better.

The next day, I was able to get the foley removed and the alarm was taken off the bed. I was FREE! Well, as free as I could be in the hospital LOL. I was able to get up and walk around. And it was hard! But, I did it. I was walking laps by that evening. I would never win races, but hey….gotta start somewhere. Also, during this time, the respiratory tech came in and taught me how to use the spirometer. I was instructed to do this as much as I could during the day. The goal was to keep my lungs open and functioning to help prevent pneumonia.

The morning of the 4th day, Agie came in and asked me if I was ready to go home. I got up and started packing my stuff away. He laughed. “I take that as a yes!” Agie said to give them a couple of hours, but he would go out and start writing up my discharge orders. WOOHOO! Even more freedom! We weren’t going to go far, as we were not scheduled to fly out until Sunday (this was Friday). We already had a room booked just a couple of miles from the clinic.

I was grateful for everyone there at the clinic, but even more grateful that I was one step closer to being able to go home.

But, as goes for my life, things are never as simple as they seem……..

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!

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.