Mum uses daughter's Goldenhar journey to create guide

The mother of a girl born with a rare condition which affects the development of the face and body has used her experience to develop a guide for others.

Rebecca Hitchen's daughter, Lucia, was born with Goldenhar Syndrome - an umbrella term for a wide range of soft tissue and bone irregularities.

However, she said when she tried to research the condition she found the information available at the time was limited, leaving her feeling "isolated" and "anxious".

She said her guide, which she created as part of her research at Leeds Beckett University, "would have made a lot of difference to her" and hoped it could show other parents "you don't need to worry".

Goldenhar Syndrome occurs in approximately 1 in 25,000 – 45,000 births and can affect the face and the vertebrae. No cause has been identified to date.

Ms Hitchen, from Bedale, said the condition had gone unnoticed during her pregnancy, but when her daughter was born she had a cleft lip, skin tags and a misaligned ear.

"I just didn't understand how it had not been detected," she said.

"How had it happened, why had it happened, what was going on?

"I was in disbelief really."

Her daughter underwent her first operation at just three months old.

"I had a few difficult situations with other parents" Ms Hitchen said.

"Lucia had a scar after an operation, somebody thought she might have been in a fire, there was a suggestion I might have injured Lucia.

"There was a lot of ignorance."

She said the experience left her feeling "isolated and anxious" with information about the syndrome very limited.

"If you Google it, it gives around 200 suggestions for causation," she said.

"It's a bit like a self-blame list really.

"I was looking through it all thinking, 'have I done something?'."

Now, aged 12, Lucia has started senior school and, according to Ms Hitchen, despite many operations and a lifetime of doctors appointments she is thriving.

"She had a traumatic start and had many obstacles, but we have been able to live a happy and fulfilled life" she said.

Her experience led her to study a Masters at Leeds Beckett University where she began researching Goldenhar Syndrome.

Following her degree, she secured funding from the Sir Halley Stuart Trust to continue the research.

With the support of her dissertation supervisor, Dr Trish Holch, Reader in Applied Health Psychology, she created the Goldenhar Guide.

It includes ideas and views from Goldenhar adults and teenagers involved in the research and is due to be sent to medics across the UK.

"I wanted to show having a syndrome or having procedures doesn't stop you from doing what you want to do in life." Ms Hitchen added.

"I hope this shows the future is bright, you don't have to worry."

Lucia said she was proud of her mum for creating the guide.

"It gives other families reassurance." Lucia said.

"It will help people a lot I think".

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."

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