Congenital heart disease: The patient's journey

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Congenital heart disease: The patient's journey
Rachel Adam-Smith
ARTICLE INFO
Keywords:
Patient empowerment
Patient education
ACHD
1. Introduction commentary by Michael A. Gatzoulis
Medicine is all about patients and adult congenital heart disease
(ACHD) is surely not an exemption to this. Establishing what is wrong,
i.e. an early and correct diagnosis and providing the best possible treat-
ment -and in good time-are top priorities, and we have come a long way
on these, when it comes to congenital heart disease. But what about
patient education and empowerment so that they can live their lives to
the full? And how much progress have we made in promoting a healthy
lifestyle and supporting patients through their physical, emotional and or
social/family needs? Having realised the life-long nature of CHD, and
what this entails for patients the profession knows to do better. Patients
and patients' associations have also potential powers to unleash to effect
this and no doubt lobbying powers to utilize. Rachel's account of her life
journey of adversity, uncertainty, multiple interventions, emotional,
physical and social strain and yet unconditional support to her daughter
Francesca and her multiple needs and pursuit of a fairer and more in-
clusive world is a testimony to her and truly moving. Her crusade for her
daughter and her needs does not end in this article, we expect to hear
from her.
Our New Journal has patients at its heart and will continue to provide
a forum that the patients’voice can be heard, clear and loud. Further-
more, the IJC CHD aims to routinely summarize and simplify any sci-
entific advance published in it, so that it can be shared with patients,
their families and the broader profession, medical, nursing or other.
“Carole and Michael (Rachel's parents)
After having two boys, we now had a beautiful baby girl, she looked
perfect.
Just before leaving the maternity ward she was taken away for her
check-up; she was a long time. Rachel's dad upon arriving to collect us
was called in by the consultant, who informed him that the observant
junior doctor had noticed an unusual heart murmur. Then they came
in to tell me.
We arrived home that day to my parents and our two little boys with
their new sister, only for me to cry and cry.”
Rachel before surgery 1977.
E-mail address: rachel.1377@hotmail.com.
Contents lists available at ScienceDirect
International Journal of Cardiology Congenital Heart Disease
journal homepage: www.journals.elsevier.com/international-journal-of-cardiology-
congenital-heart-disease
https://doi.org/10.1016/j.ijcchd.2020.100006
Received 6 October 2020; Accepted 15 October 2020
2666-6685/©2020 The Author. Published by Elsevier B.V. This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-
nd/4.0/).
International Journal of Cardiology Congenital Heart Disease 1 (2020) 100006

2. Rachel Adam-Smith
I was born in 1977 with congenital heart disease (CHD) Transposition
of the Greater Arteries (Mustard). I was operated on at 10 months old by
Dr Philip Deverall at Killingheck Hospital.
My daughter was born with a chromosome deletion (16 p 13.3
deletion and 16q 23.3 duplication), which was undetectable during a
foetal scan. At 18 years old, she is nonverbal, has complex medical needs
and is severely disabled. Despite her disabilities, she has brought great
joy to my life and opened my eyes to the way society treats those with
disabilities.
In this article I will discuss my life growing up with congenital heart
disease before moving on to address my pregnancy and the issues of
raising a child with disabilities whilst attempting to look after my own
health needs.
3. My early years
Around the age of eight, my brother and I were on the way back to our
house, he was excited, as my mum and dad had bought me, according to
him, an amazing present. In my mind, I imagined a motorised car, similar
to the ones I used to see on visits to Harrods toy department. However,
when I returned home, I found a climbing frame. I was upset at first, why
had my parents bought me a climbing frame. Did they not realise I had a
heart condition? I was never the greatest fan of the climbing frame, but it
made me realise that I could try anything, and I did. Squash, tennis, golf,
paragliding to name a few but my biggest obsession from around the age
of 10 was horse riding.
Show jumping on Biscuit approx 1991.
I was extremely fortunate and grateful to have been bought my own
pony in my early teens, and I think horse riding was the key to keeping
me physically fit. Back then, there were no laptops, no iPhones, no
internet. This meant I spent my childhood mainly out in the fresh air,
lifting bales of hay, mucking out, rides out, and endless fun. I did not stop,
spending every day after school, every weekend, and every holiday at the
stables. I was carefree and determined that my heart condition would not
stop me - cantering across Ilkley moor, riding competitions, falling off,
getting back on, finishing cross country events out of breath but exhila-
rated. I was part of a group, I felt included and enjoyed every minute of
my childhood with horses. I never thought about my heart condition, I
just got on with it.
But my heart did seem to beat exceptionally fast. I did question this on
occasions in my later teens but was always told, it is fine, take another
tablet. So, I did, and just ignored what was probably atrial fibrillation for
many a year. I did not know any different, I relied on consultants, and
they did not seem concerned. There was no literature or resources back in
the 80s that I could access to learn about my condition and no internet
support groups as there are now.
After leaving school, I decided to work as a cabin crew member. I
never thought this would be possible given my heart condition but
despite a racing heart, I passed the medicals, telling the medics, my heart
just beats faster, which they accepted. Undoubtedly, the doctors did not
understand my heart condition or want to question it. Arguably this is
due to their medical education not teaching them about Congenital Heart
Disease (CHD), thus they took my word that my heart rate was normal for
me. However, as Professor Gatzoulis argues, “there is a need for a
stronger representation of Adult Congenital Heart Disease (CHD) in
medical school curricula”[1]. If medics had understood my condition at
that point it could have been flagged with the Congenital Heart Disease
team enabling me to get the treatment I required. Instead, I flew around
the world with an arrythmia, which was potentially extremely
dangerous. CHD patients need to be supported and educated so that they
fully understand their condition. This would result in patients being able
to advocate for their own condition and educate others including medical
professionals [1].
As cabin crew, I visited some amazing countries –Mombasa, Bahrain,
Seychelles to name a few. Often, I would feel nauseous after pulling a full
bar trolley to the front of the aircraft, whilst it was climbing to 35,000
feet. In the early days, I would rush into the toilet to be sick from the
speed of my heart (which I estimated to be around 200 bpm). Despite
this, I carried on for five years, working for three different airlines and
passing three medicals throughout that time.
Shortly after I gave up flying, having moved to Gatwick, I transferred
my care to the Royal Brompton Hospital (RBH) and met Professor Gat-
zoulis for the first time. The lack of cohesion between adult and paedi-
atric services had left me without the appropriate care until the point
when I realised, I really was not very well and sought a referral to RBH.
Under the care of Professor Gatzoulis, I had the first of many cardio
versions. For the first time in years, I could swim without having to
constantly stop, climb stairs, dance with friends, and go to the gym. I soon
realised that the heart rhythm I had lived with for many years had not
been normal.
Throughout the first twenty years of my life I did not understand my
heart condition. Undoubtedly, this is due to the lack of available re-
sources. Certainly my mum's memories illustrate the lack of support
available in the 70's, “I spent every day with Rachel on the ward, even-
tually joining the small group of other mums for a chat, two of whom lost
their children, in those days there was no literature, and no support
groups, apart from the amazing Dr Olive Scott, you were mostly on your
own”. We have moved on considerably since the 1970's, parents and
patients have easier access to resources and support. However, it is
essential that all patients (and their parents) are provided with educa-
tional material, so that they can be proactive about their health [1]. It is
imperative CHD patients and their families can understand their condi-
tion, thus understanding the importance of exercise and diet, particu-
larly, as it is acknowledged that adolescence is a period in life where
physical activity and sedentary behaviour patterns are established [2].
My love of sports and my environment ensured that I stayed as fitas
possible. However, some children may be living in poverty and might not
have access to sport facilities or open green space, this could result in
poorer outcomes. Certainly, area deprivation was found to be linked to
traditional cardiovascular risk factors and it has been found that resi-
dence in deprived areas is linked to poor exercise capacity in ACHD pa-
tients [3]. Arguably, reducing social inequalities may have a positive
effect on quality of life and long-term prognostic implications [3]. This is
particularly important when we consider that there were 4.2 million
R. Adam-Smith International Journal of Cardiology Congenital Heart Disease 1 (2020) 100006
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children living in poverty in the UK between 2018–19 (that amounts to
30% of children) [4]. Thus, thought must be given to those who are living
in deprived areas, who may not be able to afford healthier food, who may
not be able to access sports facilities and/or may not have internet access
[3]. After all, if help is not given to reduce social inequalities, then it is
more than likely that those children with CHD will have poorer out-
comes.
All ready for my flight, working as cabin crew with Monarch Airlines around
1998.
4. Pregnancy
There had been no discussion throughout my late teens about having
a family and there were no resources that I could access. As a result, I
never thought there would be any issue or associated risk. It is not
something I had given great thought to as a teenager, but I do think it
would have benefitted me to have been fully informed.
Following my marriage, I met with the obstetric team at the Chelsea
and Westminster Hospital to discuss the possibility of having a baby. I
was advised that should the baby be diagnosed as having disabilities at
20 weeks, it would be better to abort them, as they stated, “it would be
very difficult to cope”. I never thought I would have a child with a
disability, no one has a crystal ball. I do not know what my decision
would have been if I had been told at 20 weeks there was a problem with
the foetus. Other than children with Down's syndrome, I knew nothing
about any other syndromes or life limiting conditions babies could be
born with. I was quite ignorant. But then, who really thinks they will have
a child with disabilities? Most people think –it will not happen to me.
The 20-week scan was normal, as far as I was concerned, I was having a
healthy baby. But the scan does not show all chromosome abnormalities,
nor do they show illnesses or accidents that might occur after birth that
renders a person disabled.
In my third trimester I started to feel uncomfortable. At 32 weeks
pregnant, I was quietly eating my breakfast when I went into Atrial
Fibrillation (rate of 210 bpm). The pain in my back from my racing heart
was unbearable. A long drive up to the RBH from Gatwick with ice held
on my neck, and a walk, at my insistence, despite my racing heart to Paul
Wood ward (I was not giving in). I had several cardioversions over the
next two days and went into heart failure. Once stabilised, I was trans-
ferred to the Chelsea and Westminster Hospital (C&WH) for the
remainder of my pregnancy.
During my stay at C&WH, for quite some time I had to stay in the High
Dependency Unit (HDU). This was very difficult, because day and night I
had to watch new mums arrive who were emotional and ecstatic at the
birth of their child, and every day I had to go through their emotions,
whilst trying to cope with my own. New mums and Dads would often
leave within a day, either to the main ward or home with their baby.
I was not allowed out of bed, or the ward for two weeks, and when I
was finally allowed, I walked all the way down to the Kings Road and
back. Luckily, no medical emergency arose; however, I came back to the
ward and slept the entire afternoon, none of the medics any the wiser as
to where I had disappeared to. I think they thought I was just sitting
somewhere close by drinking tea: I did not repeat the walk. Instead, I
would often wander over to the cinema opposite the hospital and spend
the afternoon watching films.
Francesca was born at 36 weeks by caesarean section under general
anaesthetic. Upon her birth she was transferred to special care. I was not
allowed to see Francesca for the first 24 hrs./hours due to my health, this
was incredibly difficult, particularly, as the midwife had told me prior to
going into theatre that I would wake up and have my baby with me.
Sadly, this was not the case.
My pregnancy was exhausting both physically and emotionally, and
in the days and weeks following Francesca's birth, it was a challenge
trying to cope with all that I had been through. Upon my discharge I
started to have panic attacks and would find myself walking around with
my finger constantly on my pulse, wondering if my heart was either in a
fast rhythm or whether it was going to beat again (following my preg-
nancy my heart became bradycardic, beating at only around 40 bpm).
Francesca was transferred to special care at a local hospital after her
birth. This made the journey to see her less tiring but I still struggled, as I
had not had any time to recover from my own ill health or come to terms
with what had happened.
I had no idea at this stage as to the endless challenges that lay ahead.
5. Caring for a disabled child
There is no denying that the last 18 years have been extremely
difficult. However, a large part of my difficulties has been as a result of
social care failing to provide me with the support that I need. In part, I
think this is due to social workers not understanding my heart condition
and the impact caring for a disabled child has on my health. I have always
been upbeat, smiley, and reasonably fit. I still enjoy exercising when I
have the opportunity, so there is a misconception that I must be ok and
cannot possibly have a heart condition which might mean I require more
help.
There have been exceedingly difficult times throughout the last 18
years. When Francesca was a year-old Francesca, she got pneumonia and
septicaemia, resulting in renal failure (HUS). We were taken to Great
Ormond Street Hospital (GOSH), where Francesca received lifesaving
treatment. However, I was still unwell following my pregnancy. I had
recently been fitted with a pacemaker (which was not working properly)
and had been diagnosed with hyperthyroidism. The nurses at GOSH
repeatedly tried to convince me to rest and sleep at night, as they were
worried for my health. However, I would only sleep for the odd hour here
and there - until I knew Francesca was stable. I have no idea how I got
through those weeks but somehow, I did.
Sadly, my marriage did not survive, and other than my own family's
support, I have been caring single-handedly for Francesca. I have never
received any respite. Instead professionals have often looked at me as
though I am crazy when I tell them I have a heart condition and a child
with severe disabilities. When I have asked for help, sadly, it has not been
R. Adam-Smith International Journal of Cardiology Congenital Heart Disease 1 (2020) 100006
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forthcoming. Instead, I have had responses such as “well it was your
choice to have her'' or “did you not know before she was born”. One of the
main problems with not receiving any help is ensuring that I can look
after my heart condition, both in terms of exercise and diet but also in
terms of attending my cardiac appointments and procedures. In my
opinion, there is not sufficient understanding of CHD, and how this
condition might impact patients in various scenarios. There is a pre-
sumption by social services that I just have some rhythm issues. Sup-
portive letters from the cardiac team setting out the issues that a parent
might have and the impact this could have on the care of their child
whether disabled or not would be helpful in these circumstances. This
would, I hope, ensure that a parent can be provided with adequate sup-
port, thus, ensuring their health can be maintained and not forgotten.
Communication between all professionals working collectively rather
than in a piecemeal fashion would be ideal because there needs to be far
more support for a parent with CHD. We do not need to just educate
patients and their families but also, medical professionals and social
workers.
I am thankful and proud of my heart for getting me through. But, my
main worry throughout the last 18 years is what will happen to Francesca
should I die. I am aware of my own mortality. Any child born healthy can
of course become disabled but living with the knowledge that Francesca
will always need care, has left me with anxiety as to the future.
Undoubtedly, similar to how horse riding made me physically strong
when I was younger, my daughters’disability and the endless battles we
have faced has maintained my strength and determination. However, as I
have set out above, exercise is extremely important but when you are
caring for a disabled child, a sedentary lifestyle becomes the norm and
thus, impacts on my ability to exercise which ultimately impacts on my
health.
When I started writing this article, I reminisced about Francesca's
time in GOSH when she was a year old. I remember thinking there is no
way I could cope if I had to go through a serious illness and sleepless
nights again. However, here I am, sitting in my daughter's room at
Sheffield Children's Hospital where we have been for the last two weeks.
Sadly, Francesca suffered an unexpected neurological issue, Idiopathic
Intracranial Hypertension (IIH). Due to her illness, she has hardly slept
for three weeks and therefore neither have I. My caring role has been 24/
7. I am, as any parent would be, exhausted.
Lockdown due to Covid-19 and Francesca's illness means that my
lifestyle has become sedentary, and my ability to look after my own
health, by ensuring I can have a good night's sleep, eat healthily and
exercise has once again become impossible. I can feel the impact on my
heart. When I decided to have a baby, not knowing that I would have a
child with severe disabilities, I could never have imagined how little
support parents of disabled children receive, this needs to change. It is
inhumane.
Rachel Adam-Smith and Francesca.
Declaration of competing interest
The authors declare that they have no known competing financial
interests or personal relationships that could have appeared to influence
the work reported in this paper.
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