I woke up in the early hours of the morning with my husband bolt upright, gasping for breath, coughing and choking. He was pale, sweaty, had chest pain and was panicking. He opened the front door to try and get more air. When he felt no better I knew there was something seriously wrong. I threw on a dressing gown and grabbed the car keys and hoped the children wouldn’t wake. He complained of black spots in front of his eyes, I prayed I would get him to the car before he passed out. He choked and gagged and gasped all the way to hospital. We were ushered straight to triage where my husband began to shake violently from head to toe.
This was the beginning of my husband Bob’s Cardiomyopathy story. Well, actually, the story had begun long before but we were unaware of that at the time. His distressing symptoms had been caused by a build up of fluid in his abdomen and lungs because of his failing heart. He was admitted to ICU, had a hospital stay of a few days and then we were sent home for further tests. We had some false starts from some doctors who were thinking down the wrong track, however after another frightening episode of pulmonary oedema, almost by accident we consulted our local small town physician who put the finger on the problem and confirmed the diagnosis of dilated cardiomyopathy. I will always be grateful to this kind, caring, competent man – he got us to the best Professor in Cardiology in the country, started Bob on life saving medication and got him on the track to being able to control this distressing and frightening condition.
We were so scared, we never wanted night time episodes like this again, we didn’t know his life expectancy, whether it could be cured, whatever caused this problem, whether it was linked to his other health problems, there were so many questions that only time would tell the answers. Initially Dr’s were cautiously optimistic that he would improve, they did suggest heart transplant but we declined because of our religious beliefs.
The first few months were the worst, a roller coaster of initial assessments and diagnosis, angiogram, echocardiogram, blood tests, new medications and dosage adjustments etc. A perfusion test showed Bob’s ejection fraction to be 26% with his heart moderately to severely dilated. There were no obvious causes until we started delving in to family history. We found that Bob had had an Uncle with the disease who had died before he turned 40, he also had an aunt with the disease, and subsequently his mother also has the disease moderately.
We had initially thought Bob had had no previous symptoms but once we started thinking we realised there had been some vague symptoms over the previous few years that may have been red flags. Very occasionally he had had episodes of shortness of breath. The worst was years before when he was on medication for a very bad arthritis flare up (yes! My poor man also has rheumatoid arthritis, osteoarthritis, diverticulitis/possible inflammatory bowel, psoriasis, fasciitis, GORD, a whole spectrum of inflammatory conditions). The doctor at that time thought he was having a reaction to a combination of prednisolone and painkillers. Also when we were moving house years before Bob had had his legs and ankles swell massively (oedema), which we had put down to being on his feet too much. Occasionally he had woken at night short of breath when he had been working extremely hard, but we had forgotten about it as it had not recurred and the pressures of family life had crowded this out. Come to think of it, Bob also liked to sleep with the window open, always complained if it was too stuffy. He also had a little nervous throat clearing cough that I just thought was a bad habit. None of these things in themselves were alarming, but putting it all together it may have pointed towards something more sinister being wrong.
In the weeks prior to his Acute Pulmonary Oedema attack, Bob had been extremely tired, exhausted, dragging himself around. He had been very irritable. I had wondered what was wrong, but fatigue can be a symptom of so many things, including his other chronic inflammatory conditions. He realised he had been short of breath and had had some funny chest pains that came and went.
One thing that stood out was Bob’s positive attitude and refusal to lie down and die!! He was determined to get better! He kept saying he could be cured. He did everything the doctors said, took his medication religiously. It was very frightening while he was still very ill, we had weeks of scary nights waking up breathless, but these episodes became less frequent. I’d basically have a panic attack each time, but we became more confident he was not about to die in the night, and he became stronger and fitter. We had amazing doctors! They were angels! And each visit to the Professor confirmed his heart was remodelling and getting stronger!
After about six months on Beta Blockers, Ace Inhibitors, Fluid tablets, Aspirin, etc. Bob’s heart chambers had reduced in size and were now pumping an acceptable Ejection Fraction of 50%! We were thrilled! So were Bob’s doctors.
Unfortunately life intervened with a lot of stress over the next few years, including a deterioration in the arthritis conditions to the point that Bob need a knee replacement and a couple of years later an ankle fusion. Before the second operation we attended a routine 6-monthly heart check and echocardiogram, and we were shattered to find that Bob’s heart function had deteriorated to 35%! This was a shock to both of us, however I should have picked up on his extra tiredness and fluid, which we had attributed to the poor condition of his arthritis. Thankfully the heart specialist was quite happy for the surgery to go ahead, as long as the surgeon and anaesthetist were aware and keeping an extra eye on him. He came through the surgery well, just spent 24 hours in ICU as a precaution more than anything.
Thankfully Bob recovered well from his surgery and as his mobility increased so did his health. However subsequent heart checks still showed his Ejection Fraction at 35% so our wonderful Professor enrolled him into a Patient Familiarisation Plan on the brand new drug. The drug was in the last stages of trial in Australia, it was very expensive to buy direct from America, but if you were approved under certain conditions, you could join the trial program and receive the drug for free! The patient had to have a check up with their GP every month, the GP would then supply the drug free of charge. Initially we had some issues as the drug company was very slow in sending the drug and we had a few weeks when it was unavailable, however it wasn’t long before this particular drug was approved for the PBS scheme for Australian patients and it became available as a normal prescription at your local pharmacy.
Within a week Bob was feeling energised, less symptoms, a whole lot better, although he would never have admitted before that he felt otherwise!! The proof, however, was in the pudding! Next appointment with an echocardiogram, the Professor was so happy, Bob’s Ejection Fraction had improved to 40%!! This was an amazing answer to prayer!
I am happy to say that Bob’s heart stayed stable at 40% for 2 years, and just last week we were overjoyed to year that his Ejection Fraction is now 50% - pretty much normal!!! His chamber size is still very large, 65 mm LV and 46 mm LA, but it is much stronger and pumping well!
He has had a recent hiccup, well not really a hiccup, but another piece in the jigsaw, or in his doctor’s words, he has pulled something else out of the box!.....a few months ago his new GP sent him for some blood tests and decided to check his iron levels. Surprise, surprise, it was found he had iron overload! Further tests showed that he has two heterozygous genes for hemochromatosis, this is not a very common form, and is usually not as severe as being homozygous (two copies of the same gene) but it has obviously caused a build up of iron in his system. Hemochromatosis can cause all sorts of problems, from liver and pancreas damage, to arthritis, to amazingly enough, cardiomyopathy! The specialist are scratching their heads a bit, we have found that while the cardiomyopathy comes from Bob’s mother’s side of the family, the hemochromatosis comes from his father’s side. So it is anyone’s guess how Bob came to end up with both conditions. Thankfully the iron overload can be managed with venesections (taking blood) so we have commenced this.
So I would just like to encourage anyone with Dilated Familial Cardiomyopathy, while it is a very serious illness with reduced life expectancy, there is much doctors can do, combined with a positive can do attitude, the condition can be managed, and if you are as fortunate as my husband, your condition can improve if you follow your doctors instructions. We owe my husband’s life to the brilliant doctors and researchers that have made it possible for this condition to improve not only life expectancy, but quality of life as well.
(Name has been changed to protect identity)