I am scared for what the future holds for me, but, as I told my support worker, “I can’t change it, so I will have to roll with it and do my best to have a good life.”
“When I was eight, I was diagnosed with neurofibromatosis,”
Ella celebrates her 14th birthday in March. “This has given me Scoliosis, three brain tumours, and hyperpronation. I am scared for what the future holds for me, but, as I told my support worker, “I can’t change it, so I will have to roll with it and do my best to have a good life.”
It is heartbreaking for her mother Diane, to see the maturity and grace with which her teenage daughter is handling this difficult diagnosis.
Recounting the early stages of Ella’s diagnosis, Diane describes the difficult time as life-changing. “2012 was a year that changed our lives forever. After exhausting tests over many years, the paediatrician said Ella had neurofibromatosis Type 1. He knew little about it and had to quote from the internet, as did our GP when I went to visit them for support.”
With no medical support you’re left only with the internet. With hindsight, this was the worst thing to do.
One of the main problems with neurofibromatosis is how little it is known, even among medical professionals. Sadly, Diane and Ella’s story is not unique.
A lack of information from doctors about the condition
Like her Doctors, Diane turned to the internet: “When faced with no practical medical support you’re only left with the internet. With hindsight, this was the worst thing to do, as you are faced with images showing worst-case scenarios.”
This is especially true with conditions as variable as neurofibromatosis, which can sometimes involve external tumours under the skin called plexiform fibromas.
Diane continues: “During this period, I can only say we were in a very dark place. We were passed onto Carolyn, a specialist neurofibromatosis nurse with The Neuro Foundation.
“Out of the blue, late one morning, the phone rang, and a voice said: “Hi, is that Mrs Sunderland? I’m Carolyn from The Neuro Foundation; I just wanted to see how you are all coping.” During this awful time, that was the first time anyone had asked.”
Carolyn is part of The Neuro Foundation, who rely totally on public donations to provide the specialist advice network, a crucial arm of the charity that provides support and advice to people like Diane and Ella.
Experts in the field of neurofibromatosis, they understand how variable the condition is, but also how people want to live their life.
Remaining positive post-diagnosis
Reflecting on the impact of Carolyn’s support, Diane says: “Of course, the diagnosis hasn’t changed, but Carolyn has been able to be positive and prove that – with the right care and support – those with neurofibromatosis can have a fulfilling life. She’s been into every school Ella has attended and educated those involved in her care and made sure they understand the complexities of neurofibromatosis. Ella is excelling at school and I know, if I am ever in doubt, I can rely on Carolyn to point me in the right direction. I wish everyone with neurofibromatosis could have a ‘Carolyn’!”