How NF2 affects my family

I am Jo and I was diagnosed with NF2 in September 1999 when I was 29 years old. I had some hearing loss and seemed to be losing my balance and following an MRI they discovered a golf ball size vestibular schwannoma on my right side hearing nerve and a smaller one on the left. After 14 hours of emergency surgery, I was left deaf and with severe facial palsy. Severe dry eyes resulted in ulcers and infections over the years, a gold eyelid weight helped a little. Balance and steps can be challenging at times. Night vision is substantially reduced and I have cataracts in my eyes. I have 10 spinal tumours and three cranial tumours all currently on a watch and wait protocol. Any remaining hearing I had on the left side went around 2005 so I am profoundly deaf. I had a failed cochlear implant in 2015. I communicate by lip reading, British Sign Language, pen and paper, speech to text apps, and whatever else is to hand!

I have never heard my children talk.

I am a stay-at-home mum and volunteer as Chief Operations Officer at NF2 Biosolutions UK. It is a role that has ignited fire in my belly to try and help find a cure for NF2, which can be a cruel and debilitating disorder. I advocate, raising awareness, as well as funds, for a better future and I fight with a passion to get better treatment. I run the social media accounts and collaborate with other organisations to help expand our network.

My youngest was born in 2011, and, at six months old his eyes sometimes looked a bit crossed. A trip to the eye clinic found a juvenile cataract, a trait of NF2. Regular sight and hearing tests followed, but he started to get mobility problems in his foot. When he was six, he had an MRI revealing two vestibular schwannomas on his hearing nerves, one meningioma in his head and four spinal tumours. Two of those are nerve sheath schwannomas on his lower spine and stop the signals getting to his peroneal leg nerve, causing foot drop and a club foot. Surgery to the spine tumours is too risky.

Oscar loves football and plays for his local team but the problems to his foot will need surgery to correct in a few years. But as always with NF2 the damage has already been done. We hope for a cure in the future so he can carry on playing football with his friends. The two vestibular schwannomas are already causing a low-level hearing loss.

NF2 is like a ticking time bomb, we don’t know where the next tumours will arise or when and what damage they will do. Time for a cure is not on our side so we need to advance the research as quickly as possible, not just for us but for all those affected by NF2.

NF2 Biosolutions UK

NF2 Biosolutions UK is registered charity (registered in 2020) and the UK arm of the global organisation, NF2 BioSolutions (founded June 2018). Clare Goddard is NF2 BioSolutions UK CEO and charity lead and our board of Trustees includes Professor Gareth Evans.

Our Mission: We are a non-profit organisation seeking a cure or preventative treatment for NF2 by vigorously supporting and advancing existing and next-generation biomedical technologies, such as gene therapy and immunotherapy. Our vision is a world where those living with NF2 will have access to cutting-edge solutions to live full and productive lives, free from daily physical and emotional pain or suffering. The organisation is made up entirely of volunteers who are patients, family, friends or carers of someone living with NF2.

NF2 BioSolutions UK are here to increase awareness of NF2 through family connections, connect patients for support, offer hope to patients and their families and ultimately fundraise to advance gene therapy and immunotherapy for a treatment or cure to NF2. We currently sponsor four gene therapy labs in USA and early in vivo trials have been extremely promising

About NF2

NF2 is a rare genetic disorder affecting approximately one in 35,000 individuals globally across all races, ethnicity and genders. NF2 results in the growth of multiple tumours throughout the central and peripheral nervous systems, including schwannomas, meningiomas, and ependymomas. The cause of these tumours is a defect in the NF2 gene. The NF2 gene encodes for a protein called Merlin. Merlin functions as tumour suppressor that in healthy individuals prevents the growth of tumours. Tumours that grow on the hearing nerves, called vestibular schwannomas, affect almost all NF2 patients and result in hearing loss, severe balance problems, and facial paralysis. Other symptoms may include (but are not limited to) seizures, vocal cord paralysis, chronic pain, foot drop, tinnitus, spinal and optic tumours and muscle atrophy. The only current treatment is surgery or radiosurgery which often results in loss of function of the involved nerve. Individuals with NF2 exhibit a wide range of phenotypic variability.