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!