Connor’s NF2 story

Mum knows best

Connor was born in 2006 and when he was only 8 months old I noticed a swelling on his neck. The GP was not sure what it was, so he was sent to the local hospital who diagnosed a ‘Cystic Hygroma’. He had to go to Bristol Children’s Hospital (BCH) for treatment and several cysts were injected with an inflammatory drug.

The first time, due to the location of the cysts and the risk of swelling to his airway, he had to be ventilated on the Intensive Care Unit for 2 days. He had to undergo five more courses of treatment over 4 years and afterwards I hoped that was all he would have to put up with in his life.

However, when Connor was 8 years old, his behaviour started to change, sometimes only in small ways, by not wanting to do things I asked him to do when previously he had done them. 

His behaviour at school was also causing concern with regular reports and frequent telephone calls from the teachers. The teacher rang and said ‘Mrs Walters, Connor has set off the fire alarm and we have had to evacuate the whole school!!

I took him to see the GP and he told me he was just ‘attention seeking’ but I knew something was wrong with him but couldn’t get anyone else to listen or take it seriously. After a while he started to have ‘funny episodes’, not really ‘with it’ and just ‘staring’.

I took Connor back to the GP again and was just told it wasn’t epilepsy! 

I also went to A&E but was only told he ‘looks alright now’!

This was a difficult time for me as I had just been told I was pregnant.

The ‘funny episodes' were becoming more frequent and one day when we were in the car he had a really bad ‘turn’ and my husband recorded it on his phone, so we took him straight to A&E. When we showed the doctors the video, they gave him a thorough examination and they arranged an eye examination with an ophthalmologist the next day.

When he was seen the next day the eye doctor explained the findings – Connor was virtually blind in one eye with a cataract but also he needed an urgent CT scan and we were not to leave the hospital, until the doctor had seen the result.

The scan showed 2 large brain tumours and smaller tumours on his spine.

Connor was immediately admitted to hospital and later that day, transferred from Plymouth to Bristol Children’s Hospital in a ‘blue light’ ambulance. The journey was particularly uncomfortable for me, as I was nearly 9 months pregnant at the time and Connor was still in pain from his broken arm after a recent fall!

The following day Connor underwent a 13 hour operation to remove the brain tumours and 5 days later a further operation to remove the spinal tumours.

My husband and I had to stay in the hospital with him but after a few days, I started to have stomach cramps, which I put down to stress but the pain got worse and eventually I realised the baby was coming. So, whilst Connor was recovering in intensive care, I was taken to the maternity hospital and my son Owen was born by emergency caesarean. Once Connor had recovered sufficiently, he was able to come to the maternity hospital and see his baby brother.

Connor had to go back to the children’s hospital several times, due to scalp infections and to have the skull covering changed from a titanium mesh to an acrylic plate.

Connor was eventually diagnosed with autism, anxiety and a genetic condition – NF2 (previously called Neurofibromatosis type 2) - he will continue to develop tumours throughout his life. As neither parent or grandparents had NF, Connor underwent genetic testing which confirmed a ‘random mutation’. Connor has regular MRI scans and is receiving Avastin every 2 weeks to arrest the growth of tumours. He has also developed epilepsy. 

Connor was initially treated for brain tumour removal in Bristol Childrens' Hospital, then the John Radcliffe Hospital in Oxford but has now transferred to Derriford Hospital in Plymouth which has a dedicated NF Nurse.

Connor is now 18 and on leaving school has enrolled on a car engineering course.

I am very proud of Connor for all he has gone through and he is an amazing boy.

Tracy (Connor's mum)

Jordan: "Everyone is worried about him but he is always, always staying strong. This event is a good way to get the word out and to help my family. My auntie, Tracy, she does everything she can do for her son and takes him to all surgeries and takes him to as many places as he wants to".

Schwannomatosis  Team - Devon and Cornwall Service

Helen: I am the Specialist Advisor in the Devon and Cornwall region, for individuals with inherited tumour predisposition syndromes including Schwannomatosis and Neurofibromatosis.  

The Schwannomatosis service consists of a multidisciplinary team of medical professionals with specialist knowledge and extensive experience. We are a satellite service for Oxford and work with individuals who have Schwannomatosis , including NF2-related-Schwannomatosis.

We run our clinics at Derriford Hospital in Plymouth, on the second Thursday of every month and the first Thursday for our new patient appointments. In addition, I run weekly follow up clinics for those with a confirmed diagnosis.

On a personal level,  I thoroughly enjoy my role as the specialist advisor. This involves supporting individuals and co-ordinating the care for my patients. It is fulfilling to be supporting individuals as part of their journey.

I am lucky to work with a dedicated and knowledgeable team who are willing to go the extra mile.

If you have any concerns about a potential diagnosis in the first instance,  I suggest discussing with your GP or managing consultant who can initiate a referral to our team if appropriate.  

If you are known to us already, please do phone or email us with any new queries or concerns.

Helen Tomkins

Neurofibromatosis / Schwannomatosis Specialist Advisor