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Mum of child with Goldenhar Syndrome creates guide to support new parents
Goldenhar Syndrome is an umbrella term for a wide range of soft tissue and bone irregularities which affect the face, the vertebrae and body parts. It is rare and affects approximately 1 in 25,000 – 45,000 births. There is no known cause.
Rebecca Hitchen, Research Assistant in the School of Humanities and Social Sciences at Leeds Beckett University, was motivated to research Goldenhar Syndrome and create a Family Guide after her traumatic experience in the early stages of being a first-time mother - and the lack of information and support made available to her and her family after the birth of daughter, Lucia, who was diagnosed with the syndrome.
Rebecca said: "My pregnancy was healthy and straight-forward, with positive scans and appointments. However, shortly after giving birth to Lucia, a paediatrician discovered a cleft lip, skin tags and a misaligned ear. He said cleft lips and skin tags were fairly common - but they would keep us in hospital to do some tests on the off-chance she had the rare condition, Goldenhar Syndrome. After four days of tests, we were shocked to discover partial hearing loss and a range of differences in Lucia's body and were given a suspected diagnosis of Goldenhar Syndrome.
"As you can imagine, this became a very confusing and stressful start to motherhood with lots of visits from health professionals, visits to hospitals and talk of imminent surgery. My head was filled with questions about this unexplained medical conundrum.
"After a few months of getting over the 'shell shock', I started the journey of acceptance. However, the ruminating about what had happened, and why, never stopped because I didn't have an explanation.
"Medical professionals were confused by the condition, and an NHS website I found just felt like a self-blame list. The internet was also full of hundreds of conflicting suggestions of causation which played on my mind. Despite the doctors not giving us a genetic explanation, I was told there could be a 0-50% reoccurrence with a future child - none of it made sense!
"I also had a very traumatic, neglectful, birthing experience. Feeling like I hadn't been cared for at the hospital, coupled with Goldenhar not being detected in any scans, led me to feel that I couldn’t trust anyone - and this had a huge impact on my mental health. It also motivated me to want to improve healthcare and help parents with information and support."
In 2015, Rebecca found the Goldenhar UK charity, and attended one of their annual family weekends. Through the support of the charity, she was able to meet people who understood her feelings and could see families being happy, successful, and getting on with life despite the challenges they were dealing with.
This led Rebecca to study for an MSc in Psychology at Leeds Beckett University, where she began researching Goldenhar Syndrome, with the support of her dissertation supervisor, Dr Trish Holch, Reader in Applied Health Psychology at Leeds Beckett.
Rebecca said: "Trish really empathised with me and could understand how the uncertainty of this condition and lack of clear information surrounding it made it so difficult to deal with. We both wondered how other parents felt and how they coped. There didn't appear to be any research into how Goldenhar parents felt - so I interviewed parents from the Goldenhar UK group as the basis of my research."
Following Rebecca's Masters degree, Dr Holch and Professor Georgina Jones were awarded funding from the Sir Halley Stuart Trust to continue the research. The ALIGN (Quality of Life in Goldenhar Syndrome) study involved interviewing Goldenhar adults and teenagers, and parents who have a Goldenhar child, about their experiences.
As part of the study, and with the support of Dr Holch, Professor Jones and Goldenhar UK, Rebecca has now created a guide for new parents and families, written from a parent's perspective. It includes ideas and views from Goldenhar adults and teenagers involved in the research.
Rebecca said: "We are very passionate about our guide because of my first-hand experience. We have spent a long time researching Goldenhar and we really want to share our knowledge and research to improve the start of a new Goldenhar parent's journey in life. We want to help iron out confusion, reassure families that they are not to blame - and show families that they will be able to live normal, healthy and happy lives with a few adaptions."
Suzanne Pitchford, Chair of Goldenhar UK, said: "The guide will be a great asset to the charity as it shows the entirety of Goldenhar in one complete document - from what it can entail to the fact that anyone with Goldenhar is able to live life to the full. It shows how valuable the charity's events are and how they help to support the journey through the stages of the condition - it will also help raise awareness around the condition."
Shelley Hull, Patron of Goldenhar UK, added: "Families finding out for the first time that their child has Goldenhar can be a worrying time - and having a guide to support them, I am confident, will bring hope and reassurance to know they are not alone. Meeting others at the Goldenhar UK events really does make a difference. I know every journey can be different, but remember, never let anything hold you back - but most of all, be you."
The Goldenhar Family Guide is available on the Leeds Beckett website and the Goldenhar UK website.
The guide is currently being distributed across the UK to hospitals and medical departments that deal with Goldenhar. It is also being shared with education departments. The Leeds Beckett team also hope to introduce the ALIGN study questionnaires into the clinical pathway to improve the quality of care delivered across the range of health services supporting children with Goldenhar.
Rebecca added: "We hope this Goldenhar Syndrome guide helps new families and medical professionals understand more about the condition and raises awareness amongst the general public. Myself, my partner James and all of the family are incredibly proud of Lucia. She has had so many medical obstacles to overcome - over the school summer holidays she has had a bone-anchored hearing aid implant operation, a dental procedure and numerous appointments - it is not easy, but she just gets on with life, she is happy and doing really well.
"We were all thrilled to welcome a new baby girl, at the end of June. We were well looked-after in hospital this time and had a positive experience. Trish and I are looking forward to continuing our Goldenhar research in the future."
In this article
Dr Trish Holch
Trish is a Professor in Applied Health Psychology and Director of the Centre for Psychological Research (PsyCen). She develops, implements and evaluates complex-health-care interventions in collaboration with NHS staff and patients to improve patient care, quality-of-life and facilitate behaviour change.
Professor Georgina Jones
Georgina Jones is a Professor of Health Psychology. Her research uses both quantitative and qualitative research methods and focuses on patient-reported outcome measure development, psychometrics, and patient decision-making with a special focus on women's reproductive health.
