My daughter has Nijmegen Breakage Syndrome

The story of Janette

When my daughter was 7yrs old a lump appeared near her anus. It was very painful for her and the first diagnosis was a boil. I knew inside that this wasn’t right. I took Emma back to the hospital as she could barely sit down and this time I was told it was a childhood cyst and given cal pol. After a couple of days I just knew that it was something more sinister. It had a smell that I recognised from a cancer patient I had helped to nurse in a previous job.. I took Emma back again and a junior doctor finally took notice and consulted with a specialist who performed a biopsy. The next day my worst fears were confirmed. It was cancer. Emma had a tumour named alveoli rhabdomyosarcoma. Emma started chemotherapy and as it turned out it was the chemotherapy that was killing her. We almost lost her. It was then a clever doctor put together Emma’s symptoms like a jigsaw and was diagnosed with Nijmegen Breakage Syndrome. Not a lot was known about this condition and Emma was and still is the only known person with this in the UK. There was no real prognosis and the known factors of this condition are microcephaly, learning difficulties, vitiligo, x-ray sensitivity, facial similarities, growth issues, non working ovaries and the biggest common factor is cancer.
A new treatment was prescribed for Emma’s cancer which started to work and after surgery, Emma was given the all clear.
Emma is 23 now and still looks like a 12yr old. She has been quite healthy since the cancer and even now there is still not a lot known about this syndrome. Emma attends hospital appointments with an immunology specialist and an oncologist.
We live our lives as normal and can only hope that Emma’s future is as healthy and long as it can be.
I have searched and scoured the Internet regularly for new news and also to find anyone else with this syndrome.