Guest blog by Joanne Ward, Chief Operations Officer, NF2 Biosolutions UK
I haven’t written a blog before but have shared my story in case it helps others along on their journey. They say sharing your story of how you overcome things is someone else’s survival guide!
So, my NF2 journey actually started 22 years ago, going a bit deaf and a bit clumsy, a trip to the doctors and neurologist and then given the news I have a 4.5cm vestibular schwannoma that really needed to come out and so emergency surgery was planned for 5 days later. That was my introduction to an incurable condition that I along with the vast majority of the population had not heard of, which is Neurofibromatosis Type 2.
I will start by telling you what NF2 is! Because not many have heard of it! …. And of course, I didn’t know any of this to start but with 22 years of lived experience, you get to know a thing or two!
NF2 is a rare genetic disorder affecting approximately 1/35,000 children & adults globally across all races, ethnicity, and genders. Patients are born with NF2 resulting in the growth of multiple tumours throughout the central (brain/spine) and peripheral (organs/limbs) nervous systems, including schwannomas, meningiomas, and ependymomas. Tumours that grow on the hearing nerves, called vestibular schwannomas, affect almost all NF2 patients and result in hearing loss, severe balance problems, blindness, and severe facial paralysis (both pre- and post-surgery). Other symptoms may include (but are not limited to) seizures, vocal cord paralysis, chronic pain, foot drop, tinnitus, spinal & optical tumours, and muscle atrophy and many more!
There is no cure and the only options of treatment are surgery, radiotherapy and Chemotherapy (which is a fairly recent option).
That’s where NF2 BioSolutions came in, nearly 3 years ago. They are a non-profit USA patient led organisation seeking a cure or preventative treatment for NF2 by vigorously supporting next-generation biomedical technologies, such as gene therapy and immunotherapy. To create a world where those living with NF2 will have access to cutting-edge solutions to live full and productive lives, free from daily physical and emotional pain or suffering. Led entirely by volunteers, who are patients, family, friends, or carers of someone living with NF2. With a medical and scientific advisory board. There are 3 labs working on gene therapy options, 1 lab is working on a bacterio-therapy option. They have to date tirelessly raised over $1M to get all this underway and give hope to those affected by NF2.
The UK has a small but growing NF2 community and raising funds in the UK is a little bit different, so a small group got together to form the UK charity NF2 Biosolutions UK in 2020. It means we can raise funds in the UK and benefit from gift aid on donations so that there is more money in the pot for research. We also are all entirely volunteers. And we are here to increase awareness of NF2, connect patients for support and offer hope to patients and their families and ultimately to fundraise to develop treatments or a cure for NF2.
We started by creating social media pages on Facebook and Instagram and letting the NF2 community know about it, we gathered a small following with some fundraising. Early February we decided to launch on LinkedIn to get known by professionals in the NF2 medical world! Here we were approached by the University of Manchester team working at the newly found Geoffrey Jefferson Brain Research Centre. They were already undertaking research on 2 types of NF2 associated brain tumours and needed funds to further this research to bring positive outcomes and new treatments to NF2 patients.
A new transatlantic partnership was formed to support research aimed at finding an effective treatment for NF2 and the charity is actively fundraising to support this.
Researchers at the Geoffrey Jefferson Brain Research Centre agreed a partnership with the patient-led charity NF2 BioSolutions UK & Europe, the UK arm of the global NF2 BioSolutions organisation, to support studies into the role of inflammation in the growth of tumours. The Brain Research Centre is a partnership between the Northern Care Alliance NHS Group (which brings together Salford Royal NHS Foundation Trust and The Pennine Acute Hospitals NHS Trust) and The University of Manchester, working in partnership with Manchester Cancer Research Centre, The Christie NHS Foundation Trust and Royal Manchester Children’s Hospital (part of Manchester University NHS Foundation Trust (MFT)).
It's hoped that the research programme will lead to repurposing existing anti-inflammatory and immune-modulating drugs to benefit patients with the currently incurable condition. Such drugs are widely used in conditions such as multiple sclerosis and rheumatoid arthritis
More details of the supported research are available at https://www.ncaresearch.org.uk/news/charity-supports-research-incurable-genetic-condition/
The search for funding of this and the need to get our charity better known has since led us to several different avenues.
There are around 7000 different rare diseases and so it was important that our voice was/is heard in the rare disease arena and thus we have become members of the Genetic Alliance UK patients’ groups and regularly attend their members chat. Gene people are also listing us on their next website update.
Tumours and Brain tumours in particularly are a large part of our condition and we are just embarking on several collaborations in the brain tumour area as it is hoped that our research can benefit not just those affected by NF2 but sporadic vestibular schwannomas and meningioma also and possibly other low grade brain tumours. It is an exciting arena to be in if we can make a difference with our research to so many.
So, onto the future and where we would like to be, obviously our research at the GJBRC is the most important thing we have on going and we need to finance that as a charity so, community fundraising efforts are first and foremost and we are approaching trusts and foundations to help with that. We would love a corporate partnership that could help with that also so that’s something we will be working on alongside the community and trusts fundraising.
We have more meetings lined up about collaborations with organisations both in the rare disease space and brain tumours space. We are also wanting the NF2 community and researchers to understand what they mean to each other so we are keen for them to meet virtually and look forward to organising some zoom chat sessions so that we can understand more about what research is being done.
And ultimately ensuring our research is not just for research’s sake and making it a priority that any new drugs found through research do actually make it to NF2 patients, because we are in desperate need of new treatments.
In the UK about 1900 people are affected by NF2 (incl. 330 children). At the present time only 40% of children are diagnosed in childhood. We need to ensure the physical and emotional wellbeing of these children as they grow up without the need for invasive surgeries or treatments that may rob them of their nerve functions one at a time which is the current scenario.
My drive for doing all this? ….. Well my 10 year old son has inherited this condition from me. It can be a cruel and debilitating condition and I cannot sit by and let NF2 take his future, so he is my drive to making the world a better place for those with NF2. There have been many medical advances since my diagnosis back in 1999, and I hope that at least in my lifetime to see better advances towards treatments that offer better quality of life and who knows hopefully a cure. My son already has mobility problems, a cataract and hearing loss. He deserves a better future.
We need positive patient impact and to Improve the quality of life & extend life; to improve goals, expectations & standards; to improve emotional & physical wellbeing and reduce levels of stress or anxiety associated with psychosocial factors.
We need to do all of this and we need to find these treatments as a matter of urgency.
About the Author
Joanne Ward is the Chief Operations Officer, NF2 Biosiolutions UK
www.nf2biosolutions.org/nf2-biosolutions-uk/
www.facebook.com/nf2biosolutionsuk
www.instagram.com/nf2biosolutionsuk/
www.twitter.com/nf2biosolution1
www.linkedin.com/company/nf2-biosolutions-uk
www.tiktok.com/@nf2biosolutionsuk
A One Nucleus Guest blog. Please email natalie@onenucleus.com for more information on guest blogging'