Lilly’s Story: Growing Up With NF1

First diagnosis and coming to terms

Lilly was born with significant purple marks on her face and very purple feet. She also had an obvious lump in her fontanelle. At the time we had never heard of Neurofibromatosis and none of the nurses mentioned anything, even though I felt there was something not quite right. When Lilly was 20 months old, she had to have the lump on her head removed because her skull couldn't close. Still, NF1 wasn't mentioned. Thankfully the lump was a benign tumour and all was fine.

As Lilly got into her toddler years, the marks on her face faded but she started to develop café-au-lait marks on her body. She also had freckles in her armpits and groin. It was at this stage that her behaviour shifted slightly. She would have quite considerable outbursts over very small things. Lilly didn't walk until she was 18 months.

In her early school years, Lilly struggled with friendships as she would say or do things that she didn't realise would come across in the wrong way. She didn't struggle academically at this stage, but more café-au-lait marks were appearing. I did my own research and concluded that Lilly had NF1. The GP felt the same and so we were sent for genetic testing at Guy’s and St Thomas’ Hospital. The results came back positive - spontaneous NF1, as neither Pete nor I carry the gene. It took us a while to get used to the fact, as we simply did not hear about NF previously.

Education and School

Following the first diagnosis, Lilly was able to have play therapy at primary school to help with emotions. At secondary school, Lilly found maths a struggle and she was diagnosed with ADHD. We addressed this at school and more support for specific needs were available. Lilly also began suffering with severe anxiety and OCD, made worse by Covid. She saw a regular psychologist to help her cope.

During secondary school a lump appeared on Lilly's right hand which does cause discomfort during periods of long writing. Regardless of this, Lilly came out of secondary school with 8 GCSEs and won the prestigious end of year award linked to the school motto - "pride, happiness and ambition" - out of 200 students! She also won the award for "commitment to maths" as she never gave up despite it being so tough for her. Lilly has now started college, where she is studying A Levels and diplomas to eventually take an apprenticeship to become a paramedic.

The college has been wonderful, they asked for full advice from us as to how to help Lilly with her condition; they reduced her timetable, accordingly, offered her a supportive chair, made sure she has use of a Chromebook to type rather than write if her hand hurts and are wanting to assess her for dyscalculia.

Lilly has had quite a few trips to Guy's and St Thomas’ now, especially as she has been discharged from Winchester Paediatrics. She has had a full spine MRI due to getting regular back pain, and has had a hand scan to check the lump and has decided she would like it removed at some point. She has also had a brain MRI as a baseline for future appointments.

Age 16 - Adulthood

Now that Lilly is 16, the hospital has explained everything to her about her condition, even down to having children and support available. She had a head-to-toe check where everything was noted so it could be tracked. Lilly found this process very daunting and when it was spoken about that she would naturally be at higher risk of breast cancer and would have to check herself more, this made her very tearful and frightened. We have helped her through this and she is now able to process it but it is a lot to suddenly take on at 16.

There are times when she still gets cross with herself and feels frustrated, but she has a wonderful group of friends and a boyfriend, who she has opened up to and all reacted incredibly supportive and non-judgemental. Lilly has café-au-lait marks all over her body, small signs of little fibromas under the skin, and a large birthmark under her chin but her confidence is higher than ever because she feels supported. She is absolutely thriving academically, emotionally and socially and we could not be prouder! Next steps... learning to drive! 

Following Lilly’s NF diagnosis, and the family finding out about the support available from Nerve Tumours UK, Lilly's family and friends took on various events to raise awareness and funds for the charity.