BE AWARE: YOU are your best advocate.
The following story may be scary for some to read, but it carries an important message. Patients must always feel comfortable advocating for themselves and speaking up if they don’t feel they’re getting the proper care.
This could have been a boring story with a patient living happily after, but that will not be my case. HCM has become a treatable disease. Obstruction and sudden death are partly beaten by active treatment and devices. But HCM can play tricks, which is problematic, especially if you are looked after by cardiologists who don’t specialize in cardiomyopathy.
My dear father died suddenly when he was 60. I was declared not affected when I was 18 but I did inherit the disease. Echo Doppler did not exist in 1974. I was diagnosed at 38, in 1994, but could hardly believe it, despite my disinclination for sports and stair climbing. I have always felt perfectly OK and I still do. But I suddenly came to know this year that I am end stage, at 58. That takes years, but nobody noticed. And I still don’t notice anything other than atrial fibrillation, which is new. And ominous, I now know.
I was monitored for 19 years in a hospital with a big cardiology department and they are the largest ICD centre in Holland. The same cardiologist took yearly echos and 24 hours monitoring and assured me, up till his last letter a year ago how very stable I was. He never used CMR and always gave me the same medication, verapamil and disopyramide.
My heart must have been remodeling, there has been wall and septal thinning, abnormal wall movement, the left atrium dilated and the left venticle too. Part of the heart does not move anymore and it is full of fibrosis, dead tissue. How can this happen?
At the end of January 2014 I was admitted to a hospital in another city because my heart was fluttering, and as a HCM patient you don’t like a lot of activity going on in there. That was on the evening of an emotional funeral day. They took blood, found some troponin and said: stay awhile. There I was, in perfect health, fast woman tied down with Ipad wondering what I was doing there, with a wireless Holter. Then they wanted an echo, looked at it and hell broke loose. Part of the heart is motionless, they said. Probably a huge insult. Pump function 32%! You must have an ICD!
I thought they were either mad or looking at someone else’s echo and suggested they contact my own hospital. I thought some cardiologist over there would become my new mentor after the retirement of the man that looked after me for 19 years. They received a copy of the most recent status: stable. They said it was either a silent infarctation or disease progression, which would be pretty grim. They immediately changed my medication to ACE inhibitors and anticoagulant. They sent me for an emergency angiography because of my suspected infarctation. While I was lying there the cardiologist became quite enthusiastic. Wow, big clean arteries! And another one! And another one! No infarctation. So I asked: well, how about my pump function? He had only been asked to look at coronaries but put the wire a bit further up my arteries. He looked at the screen and said: hey, part of the heart is not moving! Then I thought: it was my echo after all and they are not mad. Could this be temporary, stress induced or what? The cardiologist said well, this is odd, we need CMR.
They were so interested that they wanted to keep me there but I said no, I will go back to my own hospital where my natural history is known.The next day they released me and I was out on the streets, slightly stunned.
I was between hospitals, and expected a warm welcome in my own hospital from a new cardiologist. Nobody knew me. I immediately wrote a letter saying that my pump function was down, my septum seemed to have thinned, part of my heart did not move, the arteries were clean and I thought I was a stable HCM patient. No reply, and I had to practically crawl on my knees to get an appointment. I was eventually seen by a nice cardiologist-in-training who was not interested in the history. He said “ you were treated for heart failure, who cares about the past?” “No,” I said, “I am HCM patient and I am supposed to be stable! I have no heart failure! Thin ankles! Energetic! Have just sung three Matthew Passions with lungs like a horse!” He smiled and that was it. He gave me BBlockers so at least the medication became sort of in order.
But what was it?
I got rather desperate and started googling. Septum shrinking? Diminishing? I found that it was called wall thinning, adverse remodeling, end stage. Oh dear.
I found everything that had happened in my chest in the article of Dr. Olivotto et al: Patterns of disease progression, about clinical staging. (there is also a link on this website) The contents were about me, and it was horrible reading but also recognizable. I also found articles of Dr. Maron senior and junior, about how to quantify fibrosis, and that my sudden death risk had exploded. So ICD implantation now became necessary. All very dramatic and they had been absolutely right in the hospital in the strange city. I had been neglected for so many years in my own hospital. I had been very ignorant. Death or transplant seemed to be my only options and I had not seen it coming. I skyped with Lisa Salberg of the HCMA and she stressed that I should try to obtain an ICD. And a good doctor.
So I wrote another letter to the hospital including the Olivotto article, highlighting all the red flags that were missed (dilating atrium, wall thinning, ejection fraction, fibrosis). No reply and no interest. They sent me for a CRM and I expected measurement of fibrosis, like the article of dr Olivotto made clear. Months passed and then the CRM result was inconclusive. Did she have an infarctation, they asked. Stupid! Who would start treating me? My husband wrote a letter to the hospital board. My GP was kind enough to refer me to a tertiary HCM centre in Utrecht, one of the four in Holland but I did not know how long that would take. I felt untreated and very much alone.
Following my husband’s complaint I was called by a real cardiologist from the old hospital for an appointment. I wrote back to prepare for this consultation, asking for analysis of natural history, quantification of fibrosis and monitoring of my medication. I had been dangling for three months and had not been seen by any graduated cardiologist. The cardiologist called back and said, “look, if you have no confidence in us, and so many questions, we have no future together.” And cancelled the appointment. So here I was, between hospitals, feeling at death’s door and no cardiologist. My husband wrote again to the board and suddenly I was summoned for the next day, where we saw an experienced cardiologist who had really looked at my echo/CMR and confirmed how bad it all was. He offered me an ICD, bypassing all the procedures that usually take two months. I could have it implanted four days later! I decided to jump at the chance before it disappeared again and had the device put in.
The referral centre that treats me now is a blessing. Three specialists (genetic cardiologist, electrophysiologist and cardiogenetic) are looking after me and they consult with each other and the cardiac radiologist. They are finetuning medication, they want a PET scan and on top of everything else they are interested and very considerate. I know there is no cure but I hope to be stabilized and if all else fails they will implant a LVAD. No fun piece but better than death.
The morale of the story: make sure that you are treated by knowledgable specialists and get referral if necessary.
Don’t let happen to you what happened to me, trusting the wrong people. Many more people need medication swaps when there is progression, which may lead to stabilization rather than a one way ticket downhill. Try to make sure the staging of your disease is managed professionally.