Case Study – The Story of James Duncan as told by Helen Nichol
My story begins on 29 December 2012 when Andrew and I discovered that we were expecting our first child. We were delighted, we hadn’t been trying for very long and felt very blessed. However, there was something about the pregnancy that didn’t feel quite right, I couldn’t put my finger on it but I could never seem to imagine a happy ending. As time progressed and I passed the 12 week mark I felt much more settled but even then would still worry a bit. Andrew tried to reassure me and put it down to first time pregnancy worries.
April 22nd 2013 was the last day of my “old life”. I was due to have my 20 week scan the next day. I remember lying in bed that night and asking Andrew whether everything would be ok at the scan the next day. He laughed at me. I was young, healthy, clearly still pregnant and our baby was growing well and had just started to wriggle around, what could possibly go wrong?
We arrived at the hospital for our scan the next morning. We decided in the waiting area that we would find out whether we were having a boy or a girl. We were a bit nervous but excited too. The sonographer invited us in and our scan seemed to be progressing well. We were joking and laughing. We found out we were having a boy. A son, just what I had always wanted. The sonographer spent a lot of time trying to get the right images of the baby’s heart. She suggested that we go for a walk around and that I eat something sugary to get the baby moving. We didn’t think anything of it at all. As we walked around we decided that we would call our son James Duncan.
When we went back in our sonographer’s demeanour had changed. There was no more laughing and joking. She was concentrating hard. After 20 minutes or so she got up and said that she needed to go and get someone else. I looked at Andrew, searching for reassurance but none came, there was nothing that he could do or say, he was just as scared as me. After what felt like a lifetime the sonographer came back with a high-risk midwife. They explained that the sonographer had not been able to see what she was expecting to see and that we needed to see a consultant. We were led to the high risk area in silence. I felt scared but surprisingly calm. I’d always known that something wasn’t right.
We were fortunate enough to see a consultant that afternoon. At 3pm we went back to the hospital for our appointment with the consultant. I was hoping that she would say it was nothing serious and that whatever it was could be “fixed” but she didn’t. She told us that she thought James had tetralogy of fallot and recommended that I have an amniocentesis as he likely had some genetic disorder too. That’s when the tears started. We were handed some leaflets, one of which explained the termination procedure (if that’s what we decided to do) and were booked in to see a fetal cardiologist the next day.
We were still hoping that the fetal cardiologist would tell us that James didn’t have tetralogy of fallot and that it was something less serious. Unfortunately she told us that it was something worse. On a scale of 1 to 10 she told us it was at 10. James had something called hypoplastic left heart syndrome which is the worst heart condition there is. With hypoplastic left heart syndrome, the left side of the heart (the side that should be stronger than the right) does not develop. It is fatal. We were given many options to think about and decided fairly quickly that we wanted to meet our son so that he could know the love that we had (and will always have) for him and take his rightful place in our family.
However, whilst we wanted James to be born, we also wanted to protect him from the physical and emotional pain that his condition would bring. After months of reading, researching and meeting many specialists we decided that comfort care was the best option for James. We were adamant that we wanted him to have no awareness, no fear of anything, just a lovely happy life. And that’s exactly what he had.
James was born on 5th September 2013. His birth was like a dream. I went into labour naturally at 3am on his due date and he was born at 11.45am. He was so beautiful. Andrew and I were so proud of him. We wanted to show him off to everyone. Before James was born we wrote a bucket list for him and we managed to do everything on the list and more. James was kissed and cuddled and loved the whole of his life. He slept and bathed with me and Andrew. Bath time was his favourite time and it was my favourite time too. James would lie on my chest in the water and fall asleep. It was lovely. These memories are so very precious to me.
James died in my arms when he was nine days old. Andrew and I had been so panicked the whole of his life just wondering when and how it was going to happen. We were so scared. The morning that James died we had taken him to watch his big brother Sam play football. His breathing changed when we were there, so Andrew and I rushed home. When we got home we walked James around the garden and he settled down. We talked to him and told him over and over again how much we loved him. It was the most heart-breaking moment of my life but, if James had to leave, I am so glad that he was with his mummy and daddy when he did.
Life has been very difficult since James has gone. The grief you feel when you lose a child is like nothing I have ever experienced before. Time does not make it any easier. The day that I found out my baby had a broken heart was the day that my heart broke too, and like James’, it can never be fixed.
As hard as the last couple of years have been I can honestly say that I have never ever regretted having James, he was a gift. I will always be his mummy and that is the best thing I will ever be. Having him was the greatest decision I’ve ever made (and probably will ever make) in my life. He has changed me beyond words. He will always be my precious first born son who knew nothing but love.
The heart condition that James Duncan was diagnosed with is one of several conditions included in the ‘100,000 Genome Project’, with project teams looking to find out more about the condition so that stories like this can be avoided.
Notes to Editors:
The Trusts involved in this partnership are:
Liverpool Women's NHS Foundation Trust
Liverpool Clinical Laboratories
Royal Liverpool and Broadgreen University Hospital:
Alder Hey Children’s Hospital
Walton Centre
Liverpool Heart and Chest Hospital
Lancashire Teaching Hospital and Countess of Chester Hospital
Liverpool Health Partners
The partners and members of the NWC AHSN are listed below:
NHS Trusts and Foundation Trusts
Aintree University Hospital NHS FT
Alder Hey Children’s NHS FT
Blackpool Teaching Hospitals NHS FT
Calderstones NHS FT
Cheshire and Wirral Partnership FT
Clatterbridge Cancer Centre NHS FT
Countess of Chester NHS FT
Lancashire Care NHS FT
Lancashire Teaching Hospital NHS FT
Liverpool Community Health NHS Trust
Liverpool Heart and Chest NHS FT
Liverpool Women’s NHS FT
Mersey Care NHS Trust
Mid-Cheshire Hospitals NHS FT
Royal Liverpool and Broadgreen University Hospitals NHS Trust
St Helens and Knowsley NHS Trust
Southport and Ormskirk Hospital NHS Trust
The Walton Centre NHS Foundation Trust
University Hospitals Morecambe Bay NHS FT
Warrington and Halton NHS FT
Wirral Community NHS Trust
Wirral University Teaching Hospital NHS FT Trust
5 Boroughs Partnership NHS FT
Cheshire, Warrington and Wirral Area Team
Lancashire Area Team
Merseyside Area Team
Universities
Lancaster University
Edge Hill University
Liverpool Hope University
Liverpool John Moores University
Liverpool School of Tropical Medicine
University of Chester
University of Central Lancashire
University of Cumbria
University of Liverpool
Heseltine Institute for Public Policy & Practice, University of Liverpool
Clinical Commissioning Groups
Blackburn with Darwen
Blackpool
Chorley and South Ribble
Cumbria - Barrow-in-Furness and South Lakeland districts are working with the NWC AHSN
East Lancashire
Greater Preston
Halton
Knowsley
Lancashire North
Liverpool
St Helens
Sefton
South Cheshire
Southport and Formby
Warrington
Western Cheshire
West Lancashire
Wirral
Fylde & Wyre
Vale Royal
Business Partners
Choose Chorley for Business - city gateway in the centre of the North West region situated on the M61, M6 and M65 motorways with easy access to the West Coast mainline, airports at Manchester, Liverpool and Blackpool and the docks on the River Mersey – the perfect city gateway.
Working Partners
Northern Health Science Alliance (NHSA) - a new partnership established by the leading Universities and NHS Hospital Trusts in the North of England to improve the health and wealth of the region by creating an internationally recognised life science and healthcare system.
Health Service Research Network (HSRN) - a membership organisation that exists to represent and connect universities, commercial organisations and NHS bodies interested in health services research.
MSH Partnerships - bring together experts in the fields of health, social care, sport, leadership and transformational change to deliver besoke plans to to improve health, wellbeing and performance leading to sustainable improvement for individuals, communities and organisations.
The Manchester College - Part of Common Purpose. They run courses which give people the skills, connections and inspiration to become better leaders both at work and in society.
Health Services Research Network - a membership organisation that exists to represent and connect universities, commercial organisations and NHS bodies interested in health services research.
Neurosupport - Supporting people with neurological conditions, their families and carers.
We will be recruiting patients in the following disorders:
Liverpool Women's NHS Foundation Trust: Ovarian Cancer, Severe Intellectual Disability, Tumour Predisposition Syndromes (Familial Breast, Colon and Multiple Adenomatous Bowel Polyps and other Presumed Germline Cancers).
Royal Liverpool and Broadgreen University Hospital: Breast Cancer, Corneal Abnormalities (Keratoconus), Tumour Predisposition Syndromes (Familial Pancreatic Cancer)
Alder Hey Children’s Hospital: Congenital Heart Disease, Ketotic Hypoglycaemia, Neonatal Hyperinsulinism, Non-CF Bronchiectasis, Primary Ciliary dyskinesia and Neurological Disorders
Walton Centre: Neurology and Neurodevelopmental Disorders
Liverpool Heart and Chest Hospital: Lung Cancer, Cardiovascular Disorders (Cardiac Arrhythmia, Cardiomyopathy and Aortopathies)
Lancashire Teaching Hospital: Breast Cancer and possibly Neurology and Neurodevelopmental Disorders
Countess of Chester Hospital: Breast Cancer
Other statements
Professor Sir Bruce Keogh, NHS England’s National Medical Director, said: “This is an achievable ambition which positions Britain to unlock longstanding mysteries of disease on behalf of humankind. Embracing genomics will position us at the forefront of science and make the NHS the most scientifically advanced healthcare system in the world. This is the start of a unique, exciting journey that will bring benefits for patients, for the NHS and for society at large.”
Professor Sue Hill, the Chief Scientific Officer for England, who chaired the team evaluating the various applicant GMCs said: “The NHS has risen to both the challenge and opportunity of delivering its contribution to the 100,000 whole genomes project in the most extraordinary and unparalleled way. Locally in the NHS, there has been clearly demonstrated engagement and involvement of senior managers, clinical teams, clinical genetic and molecular pathology laboratories and critically patients and the public, all committed to using the science of whole genome sequencing to making a real and lasting difference for patient benefit.”