Ellen’s Story

Hi I’m Ellen, I’m 21 and from Glasgow. I’m studying medicine in Dundee. I love going to concerts, dancing and playing netball at University. I was diagnosed with NF1 when I was seven and I’m the only one in my family that has NF.

NTUK have supported me with specialised medical contacts in England who I can talk to when needed, they also provide generic counselling. 

I was diagnosed with an optic glioma (brain tumour) when I was 16. I’ve had to have multiple investigations, but luckily it hasn’t grown, so I haven’t required treatment but am continually monitored. 

A year ago, I was told I had a 6cm tumour pressing against my brachial plexus and that it was expected to be cancerous. I had to go for radical surgery to remove the tumour, plus extra margins had to be removed as the surgeon had to assume it was malignant. Because of its position at the very top of my brachial plexus, I suffered total paralysis of the radial nerve (biceps, triceps, forearm and hand).

During the first surgery, they performed a nerve transplant from the back of my left leg. However, the likelihood of me ever having a function in my hand again was very low from the surgery I already had, so they did a second surgery, which re-routed nerves in my forearm.

I only spoke to Kirsty (a Specialist NF Nurse in Scotland) on a few occasions as she wasn't in her postion for very long, this has meant there hasn't been a specialist in Scotland for over 2 years now. Now there is no healthcare professional in Scotland to look after NF patients. This is an urgent issue due to the rapid nature of NF. If someone was doing regular checkups, the likelihood of me having to undergo these radical surgeries would have been very low. Early detection of these tumours is essential to treat them straight away before they cause irreversible physical and mental damage.

Nerve Tumours UK are trying to further research, basic knowledge and general awareness of NF. Even though it is one of the most common rare genetic diseases, it is not well-known, managed or researched. That's why I'm fundraising for NTUK.