‘I had absolutely no idea…’

When Rebecca Hitchen's daughter Lucia was born with Goldenhar Syndrome, which affects between one in 25,000 and one in 45,000 babies, she found a lack of understanding among health professionals and little information on its cause and potential outcomes. Now, after her work on a Psychology Masters and developing leaflets on the condition, she hopes future parents of children with the condition will not be left in the dark.

'I had absolutely no idea whatsoever throughout the pregnancy. Everything was fine and healthy. I went through every scan and was told that everything was fine up until the day of the birth.' Lucia, who is now seven, was born with bilateral macrostomia (an overly-wide mouth), a small cleft lip and skin tags. 'A paediatric doctor asked us to stay in hospital for tests in the unlikely event that she could have a rare condition called Goldenhar, which is a global medical mystery. I stayed in for a week and every few hours my daughter was having more and more tests where more and more things were discovered… she's only got one kidney, three sets of missing ribs, hemi-vertebrae, fused vertebrae and hearing loss in one ear. Shortly after they discovered her heart was wired up in the opposite way. It was a very surreal experience. After that initial shock it went on with loads of appointments…' Hitchen quickly discovered a complete lack of information on the condition available for parents, with medical staff also unfamiliar with Goldenhar.

'You start asking why. Why was this not detected? Why did this happen? Then you go through with a fine toothed comb everything you might or might not have done during the pregnancy, because there was no explanation about causation. Was it my age? Something I ate? That glass of wine I had? When you think about it logically you realise if it was any of those things there'd be loads of cases… but you never 100 per cent shake off that feeling.'

Lucia has bravely undergone two operations on her face and has some scars, but any differences she has do not hold her back. Lucia has exceeded all expectations and surprised many people. 'She is happy, outgoing, bright, confident and excelling in all school subjects.'

When Lucia started school Hitchen embarked upon a Masters Conversion in Psychology at Leeds Beckett University. She decided to do a Goldenhar-specific dissertation due to the paucity of literature and her personal experience. She sought to find out more about Goldenhar and other parents' experiences. Thanks to a network of families she had met through the Goldenhar UK annual conference, Hitchen qualitatively interviewed parents about their experiences. The key themes illuminated were a need for support and to identify with others, the rollercoaster of emotion parents went through, gendered differences in coping, uncertainty, the lack of clarity over causation, the uncertainty of the journey ('every time you go to an appointment you don't know what might happen next'), societal ignorance, acceptance/ normalisation and future positive outlooks.

From these results Hitchen – with support from Goldenhar UK and Leeds Beckett University – has developed information leaflets for parents and health professionals. The leaflets aim to reassure parents, providing information on the syndrome, advising parents about likely medical investigations, describing how parents may feel about a diagnosis, and signposting parents to support organisations. Hitchen empathises with medical professionals who struggle to understand the complexity of this rare condition where every child is unique, and hopes the leaflets will offer professionals advice on how to help parents.

Hitchen, who works as a teacher with Syrian refugees, is currently hoping to publish her Masters with Dr Trish Holch and is considering a PhD. The leaflets will be available later this year on goldenhar.org.uk and will be available to the NHS.