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Marie-Joelle and her son Benjamin smile whilst on the beach

Marie-Joelle’s story: Being a mum of a child with a visible difference

Marie-Joelle’s son Benjamin was born with Goldenhar syndrome. She shares advice for other parents of kids with visible differences.

Marie-Joelle was pregnant with her first child and having her 20-week scan when doctors first mentioned that they had a few concerns. They thought there could be something wrong with her baby’s spine, and this triggered a whole series of investigations. However, all the checks eventually came back fine and Marie-Joelle and her husband Steve were reassured that everything was OK.

It therefore came as a shock when Benjamin was born with several visible mal-formations. He was missing his right outer ear, had a large cyst on his right eye and had a lateral cleft lip. X-rays also revealed that Benjamin had a larger than normal hole in his heart and spinal anomalies. Marie-Joelle said that the care she and Benjamin received was amazing.

“My husband, who’s a professor of molecular biology, started googling straightaway and came up with the diagnosis Goldenhar syndrome, which we didn’t know anything about. The consultant pediatrician on duty came immediately and was absolutely brilliant.

“Benjamin had to have lots of tests to check his condition and confirm the diagnosis. He had his heart scanned, his spine x-rayed, his kidneys tested, his blood taken, his eyes and mouth checked…everything from head to toe.”

Benjamin was confirmed as having Goldenhar syndrome, which is a craniofacial condition. Marie-Joelle and Benjamin were kept in hospital for five days while all the checks were carried out, and she was supported to breastfeed as the cleft lip made feeding quite challenging.

“I was a bit oblivious to all the visible differences in those early days. I just thought ‘he’s lovely’ and it won’t be a problem. My mind was focussed on feeding him, particularly when he started to lose quite a bit of weight. However, I got lots of professional support, something that has continued to this day and for which we are extremely grateful.”

Benjamin received his first pair of glasses when he was four weeks old and his hearing aid at the age of four months. At six months old, Benjamin had his first operation on his cleft lip, which went well. Although Marie-Joelle had to take Benjamin to the hospital twice a week while on maternity leave, she found it easier to deal with than her husband.

“My dad is a reconstructive plastic surgeon so I have grown up around hospitals and hearing about operations. I also felt that in a way those visits gave me a sense of purpose and gave Benjamin and I some structure that was really helpful.”

Benjamin is such a happy little boy. He has these beautiful blond curls. While his eye and his spine are still a bit of a worry, he is amazing and we are very proud of him.

Benjamin is now three years old and is a happy, sociable little boy. He has already had four operations and an MRI scan, which have all gone well and have greatly improved his condition. Marie-Joelle and Steve are now eagerly awaiting the results from the MRI that will determine the upcoming treatment for Benjamin’s spinal anomalies but they feel very confident in their doctors.

“Benjamin is such a smiley, happy little boy. He has these beautiful blond curls which everyone comments on. While his eye and his spine are still a bit of a worry, he is amazing and we are very proud of him.”

Marie-Joelle says people are curious about Benjamin and they don’t mind answering people’s questions. Although in the very early days she found it quite hard at some of the baby and toddler groups.

“When I started going to some of the baby groups it was quite difficult as people didn’t know how to react, especially when Benjamin still had the cyst on his eye. Older kids would ask me ‘why has he got a head torch on his head?’.

“Over the years, I have learned to appreciate it when people ask me about Benjamin rather than stare. My advice for parents is to be ready for those questions, including those from your own child. We explain to Benjamin that his differences make him extra special.”

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Workshops for children & families

Our workshops are a great opportunity for children, young people, parents and families to meet and share experiences of life with a visible difference.