My name is Skye, I am 40 years old, I love fitness and exercise and am a clothing ambassador for Inner Beast Clothing. I am interested in Business administration and have studied Business Admin (Medical) and Financial services.
I am also a mother of three beautiful children and happen to have Neurofibromatosis Type 1, from a spontaneous mutation. A spontaneous mutation means that I was the first and only member of my family to be diagnosed with NF. I was just 9 months old at the time of my diagnosis and I was diagnosed because I had a tumour on my cornea.
Back then, there was virtually no awareness about Neurofibromatosis, especially within the medical field and so my journey was one that involved lots of specialists, lots of questions and virtually no answers. We just had to take each tumour as it came and had no idea what to expect or how to prepare for a life with NF."
As an adult living with NF, it can be quite isolating and whilst it does affect my everyday life, as I am almost blind in my left eye, I always try to set a positive example for my children and not let NF dictate how I live my life.
I like to think that I model resilience and courage. I struggle with poor eye sight and balance, my coordination is affected and I have internal tumours. However, I have studied, I work and I make sure that I teach my children the importance of inclusion and acceptance and how to enjoy everything that life has to offer. It is all about mindfulness. I have suffered in the past with social anxiety and depression because of my tumours and the effects of NF- but my children are my motivation to push through those fears and face the world with a smile!
My daughter Mikaela, now 6, was born with NF too. As a sufferer of NF, you have a 50% chance of passing the NF gene on to your child. Out of my three kids, Mikaela is the only one to have NF1. Mikaela was not diagnosed until two years of age, however I suspected her diagnosis much earlier due to her café au lait birth marks, which are a genetic marker and diagnostic criteria for NF.
Mikaela has a plexiform tumour in her spine, which affects her fine and gross motor skills. She is now in school and because she has lots of birthmarks and a learning disability, that is directly linked to her NF, she has already been subjected to bullying which breaks my heart.
If I had one wish, outside of finding a cure for NF, it would be that the broader public be more accepting of difference. I understand that NF makes us look a little different, and having multiple birthmarks isn’t “common”, but difference shouldn’t be something to fear."
Despite facing adversity, Mikaela is thriving. She is a funny, kind and beautiful little girl. She adores her big brothers and they have helped her become resilient and confident by being a constant source of support for her. She loves My Little Pony, Paw Patrol and family picnics. She is a little fashionista, who loves to dress up in crazy, mismatched outfits and be the center of attention.
I sometimes feel guilt for passing on NF to my beautiful little girl, but there is no way I could have predicted how much scarier it would be as a mother, to have your child diagnosed and not knowing how it will affect them, than being a sufferer yourself. It is one thing to live with this disease, and it is another to have your child face this diagnosis and all that it entails. To hold them when they are scared at specialist appointments, to comfort them when they need general anesthesia for MRI’s and to have to explain why they look a little bit different and have spots. Sometimes, I can’t help but focus on how unfair and cruel NF is.
Overall, I think, yes, NF is scary, it is unpredictable and it causes tumours… but we make the most of every day and do not let NF define us.
I am sad to think that in the 40 years since my diagnosis, awareness for NF has not improved, despite the condition being so common. It remains progressive and unpredictable and there are still limited treatment options. I am so grateful to the CTF for hosting community fundraising events that highlight NF and improve awareness and that they encourage a message of acceptance by wanting the community to celebrate difference.
I support the CTF because it is important that we start a conversation about NF, that we show our community what NF is and use a fun event, to provide a platform to fight for a cure.
We can rally together, fight to be heard, show the lack of government funding and interest in NF as a disorder and yet celebrate those who are joining the fight to conquer NF by fundraising. The CTF are proactive in their mission to fund research and support families and so, we support them and hope you do too.