Living in Surrey in the UK, Scott, Olivia and Zac have hereditary NF2. Scott is Dad to Olivia, 18 and Zac, 13.
Scott’s NF2 journey started when he was 10 years old, he was found in his bed by his Mother having a seizure. Emergency brain surgery followed as a brain tumour called a Meningioma had grown. Surgery went well and he made a full recovery. NF2 was not even a consideration, the brain tumour was put down to a spontaneous occurrence.
Over the teenage years Scott noticed he was very slowly losing his hearing on one side and by late teens, he realised he was noticeably deafer and that it was starting to affect his balance. These symptoms weren’t acted on.
In his 20’s Scott acted on the changes that were happening to him. There was also the introduction of a hereditary disease called Neurofibromatosis Type 2 to the family as other family members had shown signs of problems at this stage. A brain scan revealed bilateral tumours called acoustic neuromas had grown in his inner ear. This is the hallmark of NF2. It was decided that to preserve his hearing and hopefully restore some of his balance, the largest tumour on his right side should be removed. The operation went well. He had a few weeks suffering with facial palsy, but it recovered. Unfortunately, a year after the operation Scott suddenly and unexplainably lost his hearing in his right ear.
Since, Scott has had gamma knife treatment on the growing tumour in his left ear in an attempt to preserve the hearing and halt the tumours growth. He has developed muscle wastage in his legs, drop foot and his balance is severely affected. An optic nerve tumour is affecting his eye sight and he has spinal tumours.
With increasing mobility, balance, sight and hearing degeneration Scott is determined not to give up and does all he can with regards to diet, physio and exercise. He has also had help with hearing tools for work to allow him to keep working for as long as possible.
Olivia with a confirmed NF2 diagnosis would see the specialist clinic each year for visual and hearing tests. At 15 years old and at one of her visits Olivia asked the consultant if she could have an MRI scan of her brain. She wanted to know what, if anything was going on in there. The consultant was reluctant citing that there were no symptoms to warrant a scan. Olivia was insistent given her Father’s presentation at age 10, the consultant agreed. The MRI brain scan showed 4 brain tumours.
An ependymoma Grade 2++ that with it’s characteristic cyst was the size of a large orange. An optic nerve meningioma. Bilateral acoustic neuromas. Olivia had emergency brain surgery 2 weeks later to remove the ependymoma that was at a stage of risk to life. The operation held many, many risks to life and to quality of life thereafter. The fantastic team at Kings College Hospital, London lead by Mr Christopher Chandler meant that Olivia walked away from that operation 3 days later to make an amazing recovery. As the tumour was graded at World Health Organisation Grade 2++ she was having monthly scans and these have been extended out. Shortly after the consultant decided that the optic nerve tumour had grown sufficiently enough that it needed to be removed also. Olivia underwent high risk surgery again.
Unfortunately, she lost the sight in her right eye during this surgery and had a complication in that CSF fluid (the fluid that protects your brain) was leaking out of her nose. Another operation followed to fix this.
Olivia’s initial sense to ask for the scan and then deal with such huge brain surgeries in
succession and their lasting symptoms has been extraordinary. Her absolute determination to never give up shines through and she does not let her disabilities get in her way. Olivia is a keen equestrian and has an insatiable appetite for good fun!
Following Olivia, Zac then had much earlier MRI scans! He doesn’t present with any symptoms, he does have two bilateral acoustic neuromas and what is suspected to be an ependymoma on his spine. NF2 is very much a part of our everyday lives, we have many scans, appointments and challenges every day, but we continue to remain positive about the future and enjoy the present.
NF2 BioSolutions is a real hope to halt the progression of the disease in our family and for others with NF2.
Clare Goddard – Wife and Mother and Fighter!