Rare Community Profiles: A Mother-Son Pair Discuss the Importance of Wellbeing in Managing NF2-Related Schwannomatosis (NF2)

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Rare Community Profiles is a Patient Worthy article series of long-form interviews featuring various stakeholders in the rare disease community, such as patients, their families, advocates, scientists, and more.

“You Have to Have Hope”: A Mother-Son Pair Discuss the Importance of Wellbeing in Managing NF2-Related Schwannomatosis (NF2)

In a moment, your entire life can change.

For Joanne (“Jo”) Ward, her trajectory shifted in September 1999. She was 29 years old. Over the past few years, Jo had experienced several episodes of losing her balance; her hearing had gradually worsened.

Concerned, she sought out a doctor’s opinion. MRIs showed that Jo had bilateral vestibular schwannomas, benign tumors that grow on the hearing nerves in the ears. Through these results and additional testing, Jo was diagnosed with a rare genetic disorder called NF2-related schwannomatosis (NF2).

She was scheduled for surgery within the week. Doctors removed the vestibular schwannoma on the right side, leaving her deaf on that side with facial palsy. Her remaining hearing in her left ear lasted until 2005, and doctors chose to debulk the remaining vestibular schwannoma on the left side in 2008.

Grappling with a rare genetic disorder—managing treatment, raising awareness, taking charge of mental health—can be undoubtedly challenging. Yet through her journey, Jo has remained committed to transforming the treatment and support landscape for NF2. Her goal is to make a difference: not just for herself but for others with NF2, like her son Oscar.

Jo and Oscar, who both have NF2, sit at the dinner table at a restaurant. Jo is wearing a blue dress and smiling at the camera. Oscar has strawberry blonde hair and is partially smiling
Photo courtesy of Jo Ward

Amidst the uncertainty, Jo has guided Oscar through awareness and understanding. Her own journey with NF2 not only equips her with valuable knowledge but serves as a source of strength as Oscar navigates the complexities of living with a rare condition in young adulthood. Says Jo:

“My guiding principle is that you have to have hope.”

Through advocacy and community engagement, including Jo’s work as Chief Operating Officer of NF2 Biosolutions UK & Europe, an organization that advances research into NF2 and potential gene therapy interventions, Jo and Oscar shed light on the impact of NF2 on families and personal wellbeing. In an interview with Patient Worthy, Jo and Oscar discuss children’s wellbeing, how to process a diagnosis, and the need to remain hopeful and resilient throughout your journey.

What is NF2-Related Schwannomatosis?

NF2-related schwannomatosis (formerly known as neurofibromatosis type 2) is a rare genetic disorder caused by NF2 gene mutations. This gene encodes for the production of a protein called merlin which normally stops tumor growth. In NF2, the gene defect leads to tumor formation on healthy nerve tissue throughout the central and peripheral nervous systems. As NF2 Biosolutions UK & Europe explains, these tumors may include schwannomas, ependymomas, and meningiomas.

These tumors are typically benign but can cause a variety of symptoms and health issues, such as hearing loss, cataracts, severe balance problems, facial paralysis, headaches, peripheral neuropathy, muscle weakness and numbness, and dizziness. If vestibular schwannomas on the hearing nerves compress the brain stem, NF2 can be fatal. While these symptoms typically appear in teenage years, they can occur at all ages.

Current treatment options are surgery, chemotherapy, radiation, and Avastin, a targeted cancer therapy. Shares Jo:

“It’s important for people to receive an early NF2 diagnosis because they get access to so many more treatment choices. When I was diagnosed at 29, I didn’t have any choice besides surgery because I was past other endpoints. If I was diagnosed earlier, I might have had more options. When I think about research into NF2, improving diagnostic delays is something that needs more focus. You can’t treat something unless you know you have it.”

Additional research into NF2-related schwannomatosis, as well as therapeutic interventions, could significantly benefit patients and families. Both Jo and Oscar are interested in the potential for gene therapies. Oscar says:

“There’s a comfort to know that, if NF2 gets more noticed, eventually we could be a cure. We’re just going to see more and more in the future.”

Jo agrees, saying:

“Medicine has come a long way in the last 20 years, so just imagine where it’s going to be in the next 20 years. You have to have hope in the medical profession.”

Finding Hope

Although Jo naturally experienced some challenges while managing her NF2, she also experienced moments of great excitement. After her diagnosis, she birthed two beautiful sons, Dylan and Oscar, with her husband Pete. The family traveled throughout the country, and the world, seeing the sights and making memories. In 2013, Jo even learned to ski!

In 2015, Jo’s doctor encouraged her to try a cochlear implant. However, the procedure did not work. Says Jo:

“People sometimes think being deaf is a bit scary. To be honest, the actual thought of going deaf is so much worse than being deaf. I had learned sign language years before, so I kept using that and moved on. I’ve learned that you cope because you have to. And honestly, I’m quite happy with my life and how everything has turned out.”

In the years since, Jo has also undergone multiple surgeries, while her doctors continue to monitor her left vestibular schwannoma, a parafalcine meningioma, a frontal lobe meningioma, and several spinal tumors. She has also developed cataracts in both eyes. However, she feels like she is in a good spot with management and is living life to the fullest. Reflecting on her experiences with NF2, Jo, now 53 years old, shares:

“I don’t have anything I’d change right now with NF2 for myself. But I’d like to change things for other people. I’ve heard stories from our community about children who are afraid for the future and what comes next. That’s really sad. I’d love to see more treatment options for children affected by NF2, but also more options to take care of their mental wellbeing. Everyone’s NF2 journey is different, but it’s all about finding yourself again, finding what makes you happy. For me, running the charity was my place and Oscar pushes me forward in that. There is life after an NF2 diagnosis, and I won’t stop until we all have a better future.”

Oscar’s Experiences with NF2

When Oscar finds something that he loves, he dives in fully. A proud supporter and season ticket holder for Nottingham Forest F.C., Oscar never misses a football game. He trains and plays for a local youth league. And despite some of the mobility issues that his NF2 has caused—more specifically, a spinal tumor and peroneal nerve defect that cause foot drop, club foot, and muscle atrophy—he is extremely proud of his position on a competitive local football team. He warns:

“I play English football, though. Not American football. NF2 affects my foot, and the disability has been more out there over the past few years. I’m having to cope with it at the minute. But I can still play football. NF2 doesn’t stop me.”

Jo and Oscar both have NF2. They are standing in front of what looks to be a go kart track. Oscar has strawberry blonde hair and a red shirt. Jo is wearing sunglasses, a hoodie, and a white shirt with a print on it. Both are smiling at the camera
Jo and Oscar. Photo courtesy of Jo Ward

Oscar was diagnosed 27 years after his mother, in 2016. Since his diagnosis, Oscar has dealt with low-level hearing loss, a cataract in his left eye, a frontal lobe meningioma, and bilateral vestibular schwannomas. He shares:

“It’s nice to have my mom here to understand. It’s been easier for me than it has been for other people with NF2, mainly because she is the one who co-owns the charity, so I’ve been able to learn from everything she knows.”

At the same time, Jo shares:

“To be honest, though, there has also been a learning curve. NF2 manifests differently even within the same family. So he’s affected slightly differently than I am. But we’re able to learn and grow together. I think that because I’ve been a good role model, that has rubbed off on Oscar. He’s not afraid to talk about things or bring any concerns to me. If you’ve got a rare disease, you’ve got to learn how to talk about things.”

Last summer, Oscar found himself in a challenging position. After undergoing foot surgery a few months before, Oscar was less mobile than usual. He also required frequent trips—every two weeks—to the physician to receive his Avastin therapy. It left Oscar in a bit of a “blip,” as he and Jo describe, where he was feeling more isolated than normal. Says Jo:

“To me, this is one of the reasons why it is so important to talk about mental wellbeing in children with chronic illness. When they aren’t feeling good or aren’t mentally uplifted, it can have an impact on so many other areas of life.”

After speaking with their outreach nurse about Oscar’s situation and mental health, the nurse connected Jo and Oscar with opportunities for more socialization and activity. Oscar now attends the hospital youth club every week with other children managing chronic illnesses and conditions. Additionally, Oscar does “Forest School” for one lesson each week and will be joining a trip to the Isle of Wight this summer through the Ellen Macarthur Cancer Trust to learn how to sail. Jo shares:

“These opportunities have been a godsend, and he really enjoys going. Oscar has improved so much since attending Forest School and youth club, and these are having a profound impact on his overall performance at school too. Happy kids have better work ethic. And I really cannot emphasize enough the importance of providing resources and opportunities to advance mental health and wellbeing in chronic illness and rare disease.”

Jessica Lynn

Jessica Lynn

Jessica Lynn has an educational background in writing and marketing. She firmly believes in the power of writing in amplifying voices, and looks forward to doing so for the rare disease community.

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