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.

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.