Carole's story

My name is Carole and I have Hypertrophic Cardiomyopathy (HCM).

I was diagnosed at 23 years (1998) of age through a routine health screening provided through my place of work in Ireland. It wasn't as big a surprise to me as you would expect because I had been experiencing symptoms for over 10 years. Furthermore, my Nana and Uncle both had a heart condition (Father's side). I was referred to a local Professor in Cardiology Dr Hennessy who was very knowledgeable on HCM. He identified that I had a Murmur and asked me to perform the Valsa Move. After conducting more tests, he confirmed that I had Hypertrophic Cardiomyopathy.

Dr Hennessy arranged for me to visit St George's in London and see Professor McKenna where more tests and genotyping was undertaken. I have an alpha tropomyosin mutation (TPM1), called A183V. My maternal Grandad, my mother and 2 of her sisters have the gene as well; none of her 3 brothers have it.

I moved back to Australia in 2002 and became a patient firstly of Royal Brisbane and when I was thinking of starting a family I became a patient of Queensland Cardiology Group in 2006 under the care of Dr Louise Carey. I attend check-ups and have an echocardiogram annually.

My earliest recollection of a symptom was when I was 11yrs old. I was putting away some drink bottles in the fridge when I felt a sharp stabbing pain in my chest accompanied by a feeling of my knees giving way. From that point on I experienced symptoms such as;
Chest tightness/hard to breath
Feeling faint / sinking episodes
Rapid heart rate

Chest tightness / angina
Fluid retention

When I was younger I noticed that when I was sick with a common cold or illness it seemed to affect me more and last a lot longer than those around me. I would often require antibiotics and it would take me weeks to feel 'right' again. Over the years I mentioned to several doctors that I just didn't feel right, or could they explain why it took me so long to recover. I think because I was so young they dismissed my concerns as anxiety (symptoms can appear similar) and advised me to find ways to deal with my stress.

I was a very active teenager and participated in a lot of sporting activities such as competitive softball, dancing and interschool sports. I also would rise early and go for a 5 km cycle and a 1km swim each morning before school. I can't really say I remember not being able to compete or participate because of my HCM but I certainly remember feeling fatigued some days and having to push harder.
In my 20's and 30's I was too scared to push myself exercise wise as I had been told that I could drop dead at any moment! I have always walked, and done yoga and Pilates and in the last 5 years I have done Zumba.
In the last few years I have very slowly and under the watchful eyes of my GP and Cardiologist taken up running, well, walking / running. I can now run 3.5km without stopping. It has taken me about 18 months to get to where I can now run and yes sometimes I pay for it the next day or 2 with fatigue, pains etc.

At 12 I had pneumonia and it left me with a weak chest/cough for about 4 years. When I was about 14 I was prescribed 2 inhalers, a Preventer and a Reliever. What I soon noticed was that when I took the preventer I felt so much better (it opened my airways) but when I took the reliever I felt terrible and would end up with a racing heart (over 200 bm) and the shakes. It seemed to me that the Reliever was an accelerant and I decided not to take it.
I have been on Beta Blockers since I was 23yrs old and have tried Sotalol, Verapamil and now Bisoprolol. I have at times taken Nexium (stomach tablet) for angina, Lasix for fluid retention, Steroids for Pericarditis, Antibiotics, and Ibuprofen for inflammation. Most recently I have been put on Celepram to assist with relaxing my chest etc. a symptom of Diastolic Dysfunction.

I have 2 beautiful boys aged 9 and 7 and so far they are not symptomatic, the 9yr old was clinically tested last year and there was no evidence of HCM. Pregnancy was definitely hard, I had to sleep propped up! I had sinking (faint) episodes for most of my first pregnancy and was so exhausted with my second. I elected to have C-sections with both.

One of the most frustrating things about this condition is that it is not visible from the outside. For all intents and purposes I look perfectly happy and healthy, but people (including medical staff) can't see the struggle and weakness that I experience on a daily basis. I wish I felt on the inside what people see on the outside. I work part-time and honestly don't think I could work full time. A night out with friends or family can see me on the couch resting for 2 days and feeling so exhausted.
I eat well and exercise 3 to 4 times a week. I try and limit processed foods and make a lot of smoothies that are packed with nutrients, for example when I feel my heart is struggling I make an anti-inflammatory smoothie (pineapple, coconut water, turmeric, ginger, flax seeds and protein powder).

I am now aware that when I am sick I need to rest more and ensure I keep my fluids up; you can't force yourself through this. I have had to learn to say 'No' to people and be really honest with friends and family about how I feel and more importantly what I need. Sometimes I do too much or exercise too hard and suffer the consequences of more symptoms or making myself susceptible to illness.

Sometimes this condition really sucks! It limits you in being able to work and play like everyone else. I have learnt over the years that the more you fight against it the harder it will be for you mentally. In order to not let the condition, take over your mind you have to focus on things that you can do and let go of what you can't do. Don't get me wrong, I have spent many nights lying awake at night wondering if I'll live to see another day but in the end I realise that I have to live for the now and give all that I can to my life and to the lives of the people around me.
I do know one thing for certain, this condition has certainly given me the ability to empathize with others and always try to understand their particular circumstances or behaviours. At the end of the day we all have our own struggles, mine just happens to be a big heart.

Postal address: PO Box 2006, Surrey Hills,
Victoria 3127, Australia

36 091 171 470