NF2 and Us - Our Story

Our History 

In 1972, our grandfather passed away from complications with an inoperable brain tumour. That’s where our story began, though, the family didn’t know it at the time. Nobody did, as NF2 itself wasn’t classified until the discovery of the “NF2” gene in the 1990s. Genes are the foundation of development, but do they define us? Does NF2 define us? Absolutely not! And I’ll tell you why… our Dad.

Above: Grandfather David (1958)

Below: Father Michael (2016)

Our Dad 

He experienced the initial symptoms of schwannomatosis with no mention of NF2. As an early teen, he fell from his bike at high speed and hurt his wrist. When our Gran noticed he couldn’t stir a cup of tea, she took him to the hospital. He underwent a surgery in which his forearm and wrist were investigated, to no avail. He had paralysis in his hand, but it was unclear why.

Hearing and balance loss, mentions of a myeloma that was taken out in 1986, was all he knew. That operation had unfortunately caused him to go deaf, as his cochlear nerve had been snapped in the process. He wasn’t told about his NF2 until the discovery of more growths in 1994, when our Mum was in early stages of pregnancy with Carl. It was a common strategy of the time to not let a patient’s mind wander over ailments and manifest symptoms.

When we were children, he underwent an operation for the removal of a vestibular schwannoma, and the placement of a cochlear implant. The schwannoma resection was successful, but there were complications in placing the implant. He awoke with an ABI (Auditory Brainstem Implant), and a palsy in the right half of his face. I can’t imagine how he must have felt, but he didn’t waver. We tragically lost him on June 12th 2022, after complications with epilepsy while recovering from another surgery. Before each and every appointment, he never failed to keep on laughing. But what do we remember as kids? Our Dad! Perseverance in a medical blackout, a lifetime of perseverance and pushing on… and nothing stopped him giving us an adventurous, happy childhood. Certainly not NF2.

Our Diagnoses

NF2, as Mum puts it, “Put it in a box, close it up, put that box in another box, put that box in another box, and put it away…” An infamous mantra, the monster under the bed! But in the case of Carl’s initial diagnosis in the early 2000s, the monster was a cancerous, terminal brain tumour! Stunned, mortified, still nursing the heartbreaking passing of our sister due to complications with her embryonic development, we were sent to a children’s cancer unit, sitting stunned as the course of and ramifications of juvenile radiotherapy were described. The family whisked us to Spain to process the news. Mum was distraught, Dad however insisted the diagnosing hospital was wrong, because he had a tumour, then our Gran confirmed our grandfather had a tumour. She was especially concerned, as regarding Dad’s issues with balance and hearing, our grandfather had experienced the same after a head trauma during his time as a serving police officer.

Returning home, Mum and Dad wrote to the major hospitals around the country, explaining all of this, unanimously receiving the words “Take him to Manchester…”. Her General Practitioner’s at the time encouraged this, as they had little knowledge of NF2 themselves, and that the specialist team there would be far more experienced, and equipped to begin addressing it. Manchester Royal Infirmary and its associated hospitals have been our haunts throughout our lives since.

Below: Carl, Aaron and I with Dad (2007)
 

Initially, the consulting professor reviewed our history and examined Carl, discovering a schwannoma on his back, diagnosing him with NF2 with certainty! They explained that radiotherapy (on the now revealed, non-cancerous meningioma) would’ve been the worst thing they could’ve done, and that it may not be problematic at all, to the overwhelming relief of our parents. It was informative, and, most importantly, provided clarity. For example, the professor went on to explain that when our Dad had fallen as an early teen, the impact had traumatized the nerve, as NF2 patients have fragile nerves.

My diagnosis was far simpler, just a simple blood test for my brother Aaron and I, prompted by the genetic nature of the condition. It swiftly revealed that I too had NF2, but Aaron didn’t. Dad himself had three biological siblings who were all tested too, and only he had carried the condition. At this stage in our story, Carl and Dad were attending annual MRI scans and clinic assessments to monitor their NF2. Of course, this became my routine too. In 2013, when I was twelve, an MRI scan revealed a meningioma had rapidly grown. Within 48 hours, I was in the theatre to have it resected! And in 48 more, I was leaving with a swift recovery from general anaesthetic.

This– I suppose, is my way of highlighting how volatile NF2 is. Presently I am battling against tinnitus and the onset of balance issues, while monitoring a ‘cribriform plate meningioma’, the removal of which could compromise my olfactory (taste and smell) nerve. This is a haunting consideration, as well as that general volatility with time. But when a procedure needed to be done, it was, and NF2 went back in the endless boxes. But it’s not as easy as that sometimes…

NF2 Now

Living with NF2 can be described in two words, ‘manage’, ‘monitor’. Throughout our lives, Carl and I have dealt with the chronic nature of the condition in many ways, having annual MRI scans and clinic assessments with a specialist team at Manchester Royal Infirmary. But only recently have we had a chance to push back against NF2! Bevacizumab (Avastin) is a newly developed antibody therapy via infusion. Through this, the progression of NF2 related growths can be slowed, or sustained. Carl and I now attend regular treatments at St James’ oncology day unit. It’s had its side effects, particularly for me, in nausea, lethargy, sickness, but I smile.

Avastin is one of many ways we’re pushing back against NF2. We have the support of Nerve Tumours UK and other charities, ongoing research every day, and the people around us, like Charlotte, committing to doing her inspirational “50K in May” to raise awareness. One memory I’ll carry with me for the rest of my life is when Dad and I talked about ‘legacy’ when I was a child. He told me that we’re defined by the people around us, our impact in the world and how we keep on pushing forward. That is what defines us… We continue to push on, honoring his memory and carving out legacies of our own.