Hannah's story neurofibromatosis type 1 (NF1) - Jeans for Genes

Hannah's story

Hannah is 14 and lives in Cumbria. She was born with the genetic condition neurofibromatosis type 1 (NF1), which can cause tumours to form around the body. She has learning difficulties, and tumours have caused headaches and problems with her eyesight in the past.

Hannah was just 22 months old when her mother Elizabeth was given the devastating news that her little girl had inherited NF1. The diagnosis came just weeks after her father Roger had died from a very rare cancer related to the condition.

‘Something drove me to keep that appointment despite having lost my husband. I felt that I had to know what I was dealing with. I couldn’t bear to lose my daughter in the same cruel way. The geneticist confirmed that Roger had neurofibromatosis and that Hannah was showing signs that she too had the condition. I was glad that Roger never knew he had passed it onto Hannah.’

A consultant explained that neurofibromatosis results from a fault in chromosome 17. Children have a 50/50 chance of inheriting it from an affected parent, so the chance is on a flip of the coin. Hannah’s brother had not inherited the condition. In rare cases the tumours can become cancerous.

At the time of her diagnosis Hannah had little effects of neurofibromatosis. Her mother noticed her face wasn’t quite symmetrical and she had the café au lait spots. But around two to three years old she had a noticeable swelling above her right eye, caused by a neurofibroma tumour. She had another tumour on her back, her sight was affected and she was slower to speak and walk. As she got older, Hannah displayed learning difficulties associated with NF1.

By the age of eight, Hannah’s tumour was impacting on her eyesight and causing constant headaches. Elizabeth decided to go ahead with surgery to ‘de-bulk’ the tumour in December 2006. The operation can’t stop the tumour growing back, but it has made a massive difference to Hannah’s life.

‘When she came round from surgery she was thrilled with how she looked – despite the bleeding and swelling. She had felt self-conscious of the tumour above her eye, and other children stared and made nasty comments. Now Hannah is 14 and the swelling has increased just slightly. She does get down at times, but she’s usually very positive. She is bubbly, fun and happy. She’s always chatting and giggling. She does sometimes worry about cancer but she copes really well.’

Despite her learning difficulties, Hannah is doing well academically in a mainstream school. She is about to embark on her first GCSE year – something which makes her mother burst with pride. ‘I never expected her to do so well at school. I’m so proud! Hannah wants to go on to do nursery nursing.’