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The importance of advocacy: Raising awareness for neurofibromatosis

Angel discusses some of the challenges she has faced while living with neurofibromatosis

type 2. The blog highlights the importance advocacy and raising awareness for rare diseases.

May is neurofibromatosis awareness month. Neurofibromatosis refers to three separate genetic conditions that cause the growth of tumours on nerve tissues. The three different conditions are neurofibromatosis type 1 (NF1), neurofibromatosis type 2 or NF2 related schwannomatosis (NF2) and schwannomatosis (SWN).

There is often confusion between each of the conditions, especially NF1 and NF2, but they are very different from each other. One thing all three conditions have in common is that they currently have no cure. As someone living with neurofibromatosis type 2, I understand how important it is to raise awareness for NF.

I was diagnosed with NF2 in August 2018 when an MRI scan showed the presence of bilateral vestibular schwannomas. These are tumours on the hearing and balance nerves and are an automatic diagnosis for NF2. I was momentarily relieved when I received my diagnosis—a feeling I’m sure many people living with a chronic illness or rare disease will understand. I was relieved that there was an explanation as to why I had been feeling the way I had been for so long, the daily migraines, dizziness, nausea, vomiting, fatigue and uncontrollable pain became my normal.

I had been searching for answers for so long, I was just happy to finally have one.

The feeling of relief was short lived and it wasn’t long before reality started to sink in. I have an incurable, rare disease, I have multiple tumours all over my body, this is part of my life forever.

Living with a rare disease is challenging for many reasons, the most obvious being the physical effects of the disease. In my case, the tumours that grow and the pain and problems that they cause. I have tumours everywhere at this point and will more than likely develop more as the years go on and that’s hard, both physically and mentally. But the challenges that come with having a rare disease go far beyond the complication of the disease itself.

For me, some of the most challenging parts of living with NF2 are everything else that comes with living with a rare disease. Trying to juggle everyday life with the never-ending hospital appointments. Dealing with the isolation felt when your illness prevents you from spending time with your loved ones. The guilt of putting your loved ones through everything that comes with a rare diagnosis, the guilt of missing out on important milestones. The grief felt from the losses of what could have been if the illness, and all that comes along with it didn’t exist. The helplessness felt from having no control over the whole situation. Then comes the mental strain of constantly having to advocate for yourself, being the link between multiple different medical teams and clinics, making sure everyone is on the same page. Fighting for your voice to be heard can be really tiring.

I am the type of person who likes to have as much information as possible when facing something, so being diagnosed with such an unpredictable disease with so many unknowns was, and still is, very challenging.

I soon found myself desperately searching for answers online, with NF2 being a rare disease, the information available online was limited and still left me with lots of questions.

After digging a little deeper and joining some online groups, I found many others across the globe who are living with NF. It soon became clear to me that some of the best sources of information and support were from others whose lives had also been affected by NF. From joining these groups, I became part of a tight knit community filled with people who understood what it was like to live with NF. Finding others with NF and hearing their stories really helped me come to terms with my illness and made me feel less alone

Before my rare diagnosis, I never truly appreciated the significance of raising awareness. I would always support others who were raising awareness for a cause that was important to them. I knew it was important, but I never stopped to think about what that really meant. For me, raising awareness means showing the realities of the disease in the hopes of encouraging more research and funding. Research and funding are needed to provide a better understanding of NF, allowing for the development of more promising treatment options. Better treatment options can improve the quality of care given to those living with NF. The goal is to one day have a cure for NF, where each step taken towards improving on current knowledge and treatment options is another step taken towards finding a cure for NF.

I wanted to share my story to raise awareness for neurofibromatosis type 2, something that is so important to me. But I also wanted to share my story in the hopes that someone in the same position I was in five years ago might stumble across my page and know they are not alone. Reach out to others and you’ll soon find you aren’t as alone as you might think. Alone, we are rare, but together we are strong.



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