Ellen is a bright, bubbly 23-year-old with a heart of gold. Ellen also has NF2, a rare genetic disorder affecting 1 in 25,000-40,000 people. Her battle with NF began at the age of two, when her parents started noticing lumps on her scalp and face, but the cause of those lumps would not be made clear for another 13 years.
This is Ellen’s Story
Visiting specialists to discover the cause of those little lumps became Ellen’s normal at various points throughout her childhood. It wasn’t until 2005 that a biopsy of one she was having removed from just above her eyebrow revealed itself to be a neurofibroma.
Suspecting she had Neurofibromatosis Type 1 (NF1), she was sent to the NF Clinic at Westmead for an assessment, but she did not meet all the diagnostic criteria. Years passed and no doctor could figure out why these “lumps” were growing.
When Ellen was in Year 8, she started to notice the sound in her left ear was softer than in her right. Her ears had been blocked from a recent cold, so she was not immediately concerned until a few months passed with no change. At this point, she met with an Ear, Norse and Throat (ENT) specialist who recommended an MRI, as there was no obvious reason for her hearing loss.
This was the “A-HA moment”. Ellen’s MRI revealed two acoustic neuromas and multiple spinal tumours. She was immediately diagnosed with NF2. Ellen says that the initial diagnosis was hard as she learnt more and more about the progression of the condition, but she tried to remain busy to avoid thinking about it.
Ellen was diagnosed in 2011 at age 15 and has had 6-monthly MRIs to monitor the growth of her tumours. Thankfully, the tumours remained stable throughout her high school years and did not impair her hearing further. However, this was not to last.
In 2017, Ellen was in her final year of her Bachelor of Science degree when an MRI revealed that the acoustic neuromas had started growing again. Their growth began to put increased pressure on her brain, resulting in frequent migraines and dizziness. Amazingly, she powered through the remainder of her degree and prepared for surgery in early 2018.
I was told to expect all my hearing in my left ear to be gone with possible facial paralysis. This was frightening, but I was lucky to have supportive family and friends to help me deal with the news."
Fortunately, her facial function was unaffected by the surgery, but getting used to being completely deaf in one ear was still a challenge. It made her grateful for the hearing ability she still had; ever aware of the unpredictability of the condition.
Six months after the surgery, Ellen went in for a routine MRI. She was shocked to learn that the acoustic neuromas had continued to grow, and she would require another surgery to remove the remainder of the left tumour. In November of 2019, Ellen endured a 12-hour long surgery to remove the tumour.
She was in a much better mindset going into her second brain surgery. She learnt to manage her anxiety by putting all her faith and trust in her treating doctors.
I was beyond ecstatic waking up to learn that they had once again retained my facial function! Learning to deal with hearing loss is difficult but manageable; however, I was more afraid to lose my facial function. Smiling is super important to me and I believe it unconsciously makes me happier and helps me deal with the unpredictably and progressiveness that is NF."
One of the biggest challenges Ellen has faced is transitioning from someone who identifies as a hearing person, to someone who is almost deaf.
As a hearing person, Ellen was extremely social and enjoyed being part of group discussions. She also loved going to see live music with her friends. As she began to lose her hearing, it became almost impossible to be involved in group discussions. As a result, she has learnt the value of more intimate one-on-one conversations and has built up the confidence to ask for something to be repeated in group settings. She still enjoys going to see live music and can dance to the rhythm and feel of the bass.
For Ellen, the best way to overcome the unpredictability of NF is to surround herself with people that bring happiness into her life and are endlessly supportive.
Going to sign language classes at the Deaf Society was a pivotal moment in me coming terms with the fragile nature of my hearing and its limited longevity. Sign language is absolutely beautiful, and I would love to make more connections and be a member of the signing community."
Ellen hopes that by sharing her story she will become a positive role model to others within the community. She has been working as a Mental Health Worker since 2018 and has begun her Masters in Social Work. Going back to studying was quite daunting for Ellen, however after speaking to the university’s Disability Services, and being open and honest with her teachers and peers, she was able to make the relevant adjustments and walk into classes each day confident and happy.
More recently, Ellen has noticed the hearing in her right ear is starting to deteriorate, but is looking to start treatment with Avastin to delay the need for further surgery.
Ellen says that her journey with NF has brought so much more confidence in her ability to express herself, and she has learnt that there are so many compassionate and accepting people out there!