Hi my name is Deborah, I’m Originally from England, and I’ve lived in Scotland with my Husband and daughter for the past 22 years (previously I lived in England, North Wales and South of France, so lived in many places).
I was diagnosed with Neurofibromatosis Type 2 when I was 19. I had several dizzy episodes when I was in my teens and I had several blood tests which all came back negative.
My Mum, who is no longer alive, had NF2 and she had a serious operation on her head to remove one of her large tumours. This left her deaf and her mouth was to the side and one of her eyes was damaged. I was 13 when she had the operation and was in complete shock when I saw her. We were told that it was a 50/50 chance that it could be passed on to me. So my Dad pushed for an MRI scan for me even though the GP didn’t think I’d have it.
In September 1995 I received the dreaded phone call. I was asked to come to see the GP for my scan results urgently. Once I received the news that I had 2 tumours either side of my head, like my Mum, I broke down. The GP tried to reassure me that I wouldn’t end up like my Mum. Being 19 I thought I’d end up with my hair shaved, being deaf and not have a good quality of life like my Mum.
I was living at home with my parents at the time and had to go to Liverpool hospital to see a consultant called Mr Foy and the ENT specialist. I was due to go to Avignon, South of France, as an Au Pair the following month. Both consultants advised me to consider my diagnosis and forget about going to France. I was distraught once they said this. They didn’t know much about NF2, with it being rare, and they didn’t know how it would affect me.
I went to France 2 months after once I was told that I could get on with my life and it was going to be a wait and see basis (I’d get an MRI scan each year and as long as they didn’t grow or affect me we’d just wait and see).
After 3 months I went back home from France to get Gamma Knife treatment at Sheffield on my left side tumour. Unfortunately this left me deaf on my left side. I also get Neuralgia on my left side due to having this treatment.
I have been fortunate that I’ve not had to have an operation yet. But I’m very much aware now that I’m in my 40s, this is when the tumours start to grow in my family, I’m starting to worry and this could change. Due to other health issues from having my daughter 13 years ago (Painful Bladder Syndrome) I’ve found this has had an awful effect on my balance as well with NF2. I’ve lost balance in both sides of my ears and if I don’t sleep well, which is on a regular basis due to Painful Bladder Syndrome, I end up constantly bumping into things.
I try to go to the gym 4 times a week as find this helps me both mentally and physically. But depending again if I’ve slept ok the night before.
I feel angry, frustrated and upset. My Dad, who worked full time and was my Mum’s carer, died 17 years ago (4 years before my Mum died). They always say the carer goes first. I’m an only child and my Husband and nearly 13 year old daughter are my only family now. I wasn’t going to have children due to this disease but my Mum said at the time its 50/50 and you can’t live like that, try and think positive. Unfortunately my daughter tested positive for NF2 at Genetics through a blood test. Just waiting on MRI scan results (fingers crossed). I had my scan in January and don’t see my Consultant till end of June. Hoping it will be good news as haven’t been called in early yet.
This is a horrible genetic disease. Please join me in the fight against this by supporting NF2 Biosolutions with their mission to advance gene therapy. Ultimately we need to find a cure for NF2 . This will make a huge difference for everyone living with NF2. Thank you.