Background Story

How I was diagnosed

(Page first written November 2017)

I was born with a faulty TNNI3 gene which meant that my heart muscle was never made properly. Although I was born with this gene, I didn't start to develop noticeable symptoms until around 2013 (age 17). I received a heart transplant February 2017.

This page really is just to fill you in on how I got my diagnosis of Restrictive Cardiomyopathy.

October 2013

This is probably the first date I remember things starting to get worse. We moved to a new house and there's a picture on Facebook of me asleep on the floor on moving day because I was so exhausted from the move, I always had naps as a child and teenager but I just thought I was lazy! I missed a lot of college in 2013 because I slept a lot and I was always late on the days I did go in because I had to walk to college and I used to put it off. I would also wait in college at the end of the day for hours so that my mum could pick me up even though I only lived 20 minutes away!

May 2014

Despite struggling with exercise I just always carried on like nothing was wrong. I would do interval training at the gym and weights because I could recover in between and that was okay, I could never run. I was going to the gym a lot at this time so I thought I could run the race for life (3 miles). So I turned up on the day, dressed in pink and I collapsed :( They told me it was the heat and I just didn't think anything of it really. Oh, I need to mention that I had inhalers at this time because I had been to the doctors a few times about chest pains when I exercise and they said I had asthma. The inhalers never helped me but I continued to hope they would so I used them every day!

June 2014

I went on a few holidays over the summer and even though I'd been going to the gym around 4 days a week, I really struggled to walk around the resort.

I stopped going to the gym while I worked at Selfridges from October to May 2015 because I just didn't have time while I was working full time. I also drank a lot of caffeine while I worked there because I was so tired all the time!

June 2015

I went to Malia on holiday and I found it really hard to breathe while I was there. I thought I just had asthma so I took my inhaler a lot but it didn't help at all. I was out of breath walking but it was the pain that bothered me the most, I just felt like I couldn't breathe and that someone was sat on my chest. While I was away I also had to have a nap every night before we went out even though I'd just been lay on a sun lounger all day.

September 2015

I started my first year of uni and I was tired a lot. I spent a lot of time just in my uni flat and I missed a lot of lectures because I had to walk everywhere. I was still going to the gym in Liverpool but it was getting harder and harder and I was just doing weights rather than cardio. The lectures I missed the most were the ones that were really far away (15-minute walk), but especially one where I had to walk upstairs to get over a bridge. I also started working at Vodafone part-time which I loved but I got really out of breath walking there, thankfully I could sit down all day!

Summer 2016

My boyfriend and I were cycling a lot over the summer, I was working at Vodafone in the Town Centre so I was cycling there. It was hard but I just thought exercise was hard. It was only when I would cycle with Ciaran that I wondered why it was so hard for me and not for him. During 2016 I had been to the doctors again about my chest pains and tiredness. A lady doctor that I saw thought I had a chest infection even though I said I've had it for years and I wasn't ill. She gave me penicillin and sent me for a chest x-ray. I ended up with a rash because I'm allergic to penicillin and no improvement so all in all not great and I didn't follow up with her (understandably)!

After moving my uni things home for the summer I went to the doctors again about tiredness and needing to go to the toilet a lot, I wanted to be tested for anemia and diabetes. A male doctor I saw tested my blood and said I was fine and that he thought it was just stress because I had moved home from uni.

CRY Screening

Despite doctors probably thinking I was a hypochondriac, I knew something was wrong. My sister Victoria had been for a CRY screening the summer before and wanted me to go too but I put it off because I would have had to walk there (I put things off a lot that involved walking!)

CRY is Cardiac Risk in the Young and screenings take place near where I live by a wonderful lady called Deborah. She sadly lost her son when he was around my age, as he died from sudden cardiac death. The charity does ECGs on people aged 16-35 to screen for any abnormalities and they do it for free!

So I had my ECG and they said that it was abnormal and they also did an echo. They then referred me to the GP, so they write a letter about what they've found and send it to your house to take to the doctors.

September 2016

We went to Barcelona for Ciaran's birthday and at this time I had really slowed down my walking and was noticing even more that I was tired a lot. I had to sleep every day after walking around the city and I had to walk really slowly. It was scary because I knew something was wrong at this point but still had no idea what!

October 2016

I went back to uni and I received my letter from CRY. I had to take it to my GP which I had to walk to so it took a while before I actually took the letter into the doctors. Finally I did and they sent me a letter for an appointment to see a cardiologist in January 2017. No one wanted me to wait that long as we knew something was wrong and were starting to worry. So I was referred by a brilliant doctor in Liverpool who explained to me how it works to go privately. He said he'd speak to a friend and find out the best person to go and see, he called me on the Friday while I was in the library and I made an appointment to see Dr Todd the following week.

November 7th 2016

Today I met Dr Todd at his clinic at Spire, Warrington. Although it was pricey, what a lovely hospital! It was strange to answer questions about how many times I've fainted in the past and how long it's been that I've struggled with exercise, how did I never notice? Dr Todd says there's something very wrong with my heart but he can't be sure what until I go for further tests, he thinks that my heart might be the wrong way round so the right side is on the left and the left side is on the right! Although we realised at my appointment that things were perhaps more serious than we first thought, it was nice to see a doctor who I felt understood how I felt after having my symptoms ignored for so long. He's referring me to himself at Liverpool Heart and Chest Hospital (under the NHS) for more tests. Today my pulse is 80 bpm.

November 15th 2016

Had my CT scan today with Dr Fairbairn and I also had an echocardiogram. (I am going to make another page which explains what all the different tests are like, in case you are going for one and want to know what's involved!) I had to be injected with a beta blocker because my heart rate was 99 bpm, partly because my heart beats fast but I think mainly because I was a bit nervous! So I had a headache when I was finished and was SO tired when I got back to my flat!

That night Dr Fairbairn phoned me to tell me that I have a big blood clot in one of the chambers of my heart and I need to pick up some blood thinners. My GP in Liverpool sent them over to Boots so I didn't have to go to the doctors because he knows I struggle walking. I got quite upset tonight because I don't like the thought of being ill and it's starting to dawn on me that something quite serious is wrong. 

November 28th 2016

I've been to have my echo and CT scan and today I'm in to follow up with Dr Todd. I have no symptoms from my blood thinner (apixiban) and Dr Todd is starting me on a beta blocker. The idea is to slow down my heart beat so my heart has more time to fill with blood in between each beat. I am starting on 1.25mg of Bisoprolol Fumerate which I need to increase to 2.5mg in 2 weeks. Had some bloods done today and my NT-BNP is 894 ng/l and it should be less than 400, this is used to measure your heart failure.

Since increasing to 2.5mg I'm really tired but the pain in my chest is much better when walking.

December 2016

I can't quite remember when but I ended up going to A&E during December, I couldn't breathe very well at all, it felt like someone was squeezing my chest so I couldn't get any air in. I waited 8 hours in A&E and even though I told them I have cardiomyopathy I was sent home with an inhaler after they did zero tests. I emailed Dr Todd to tell him and he told me to come in. 

December 23rd 2016

I went into Liverpool Heart and Chest and had an ECG, echo and chest X-Ray. The chest X-Ray showed fluid on my lungs so I was given 40mg Furosomide once a day. I was really ill over Christmas with flu and thankfully could just do nothing for a few days. I started taking 2.5mg Bisoprolol morning and night and it gave me the worst insomnia I've ever experienced. I didn't sleep for 3 days, I was so tired but I just lay in bed wide awake. I also couldn't fall asleep in the day so I just didn't sleep at all. So I decided to start taking all 5mg in the morning instead and that helped slightly so long as I take my medicine early in the morning. 

January 3rd 2017

I went for an MRI. I saw Dr Todd around this time for a follow up and he confirmed that I have Restrictive Cardiomyopathy. I was told that there is nothing they can really do for me other than one day I will need a heart transplant. I had already read that this would be the case as it is common to need a transplant with Restrictive Cardiomyopathy when the symptoms can't be managed anymore.

Around January/ February I had a CPX/ exercise/ stress test (it has many names). I think this made them worry because it was around 60% of what it should be for someone of my age, weight, height etc. I also had a 24 hour holter before Christmas which measures your heart rate and it showed that I don't have any irregular beats. Dr Todd has warned me that if I were to lose my 'atrial kick' (your heart rhythm) then I would need to get to the hospital and would feel quite ill.

 

February 17th 2017

I saw Dr Fairbairn and was referred to the Transplant Centre at Wythenshawe Hospital. Although the doctors say I'm not at that point yet Dr Todd would like me to meet with Dr Shaw so that I know him so if I were to deteriorate quickly then I would already be known to them. At this point I don't really know anything about transplant and I just think 'great, I won't have any symptoms anymore'. But then I decided I don't want one until I'm much older because the life expectancy according to the internet is 10 years! So I can put up with being out of breath. At this appointment my NT-BNP was over 2000 (should be under 400).

March 2017

I moved home from university at this point as I was really struggling living on my own, if I was too tired to walk to the shops or even go in a taxi then I'd have no food in and I was getting home sick as well. When you find out you're poorly you want to be around your family and friends really. So I was off sick from work for a couple of months and I left in March. I did my uni work from home for the rest of the school year and got taxis in for my exams. I managed to finish the year with 58% (2:2) which wasn't what I wanted but I was over the moon to just finish at this point.

June 2017

It's crazy at this point to think that I first went to see Dr Todd only 8 months ago and my life has changed massively! Today I met Dr Steven Shaw at Wythenshaw hospital. He does not feel that I need a transplant at present but that I am a suitable candidate and they will keep a close eye on me to see how I get on. He then wrote to me afterwards saying he wanted to repeat my CPX test as he's concerned about how quickly I'm deteriorating. He discussed transplant with me, told me about some really successful cases and also explained the risks and that they cannot say at all how long they think I'll live afterwards as everyone is different. But it will eventually get to the point where a transplant will be my only option.

Summer 2017

I had the summer off uni and also didn't work, I enjoyed just having time to relax and see friends and family. I'm also no longer walking anywhere at all. I'm looking forward to making a fresh start at uni in September and also I'm moving house with Ciaran! I'm struggling a lot with my appetite at the minute, I can barely eat some days until the evening although my weight has stayed exactly the same so it's hard to monitor my fluid because I am not eating.

During the summer I was admitted to Liverpool Heart and Chest overnight to have some tests done because I couldn't breathe very well and I had a pain in my ribs which I thought could be my liver. I was told I had a congested stomach which probably just happened because I'd been away for a couple of days and eaten more than usual and had been walking a bit so my stomach hadn't been able to digest anything. The doctors explained that when your heart is failing it prioritises blood to your vital organs and that's why my stomach hadn't digested any food.

September 2017

I went back to uni September 28th. I have my own car now so I can drive to uni and wherever I need now. I also have a disabled badge so I can park right near places which has made my life 1000 times easier. I no longer get anxious about going somewhere and panicking about where I can park or if I have to walk for ages.

October 2017

I repeated my exercise stress test at Wythenshawe Hospital. I thought that it went okay because I could walk for longer than I usually can when I'm out and about, I think because I was determined to do well! However, Dr Shaw told me I was about 43% of what I should be which is a huge drop since June (June was 60%). Although I'm disappointed it at least explains why I've been struggling so much more recently. Dr Shaw wants me to come in for a pre-transplant assessment. So I'll be admitted for 3 days, I'll have numerous tests and scans, and I'll have a catheter into my heart to measure the pressure and things more. We spoke more about transplant and although I didn't think I'd be having one for a long time, I look forward to life after transplant and being healthy and normal. During my assessment I'll meet some transplant patients which will be amazing to hear about their experiences!


The following blog posts will include my transplant assessment, the wait for the call to say there's a heart for me, the surgery itself and life post transplant. I hope you enjoy!

Love Charlotte x