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The realities of life with neurofibromatosis type II

Angel explains the realities of what it is like to live with neurofibromatosis type II.

I have had health issues for as long as I can remember. I was dismissed by medical professionals so often that I stopped seeking help—chronic pain and fatigue became a normal part of my everyday life.

On my 19th birthday, I began to suffer from migraines. I spent my nights lying on the cold tiles in the bathroom in the dark, vomiting until I’d eventually fall asleep. I went to the GP countless times, but was reassured each time that I had nothing to worry about and given pain relief. Eventually, I went to A&E and got an MRI—this is when everything changed. The MRI showed three brain tumours, two of which were bilateral vestibular schwannomas (VS).

Bilateral vestibular schwannomas are tumours that grow on your hearing and balance nerves and are an automatic diagnosis for neurofibromatosis type 2 (NF2).

After this MRI, I was handed a piece of paper that said “Neurofibromatosis type II”. I was told I had it and that my daughter and I would have to be tested. Part of me was relieved to finally have a diagnosis, but I was also terrified.

NF2 is an incurable genetic condition that causes tumours to grow on the nerves. It is caused by a faulty NF2 gene on chromosome 22. The NF2 gene is responsible for the production of merlin, a tumour suppressor protein. When there is a fault within the NF2 gene, merlin is not produced correctly or at all, resulting in uncontrolled tumour growth. The tumours most commonly grow within the brain and spine, but can grow peripherally too. The tumours associated with NF2 are usually benign, but can have detrimental consequences due to the locations they grow. Like many rare diseases, NF2 is unpredictable and each case is different.

Nobody knows what the future holds, but being diagnosed with an incurable and unpredictable disease makes it much harder to see the future in a positive light. I began to grieve the life I imagined for myself and my family—it just didn’t feel fair. Things were just beginning to look up for us and then I was hit with this.

Since being diagnosed, I regularly make a five hour round trip to attend the only clinic I know of in Ireland that sees patients with NF2. The “watch and wait” approach is often taken with NF2, which means watching the growth of the tumours through MRIs and intervening when the tumours are causing damage or when the potential treatment options pose less risk than leaving the tumour to grow.

In the first two years after I was diagnosed, I was found to have tumours everywhere including 9 in my brain, 4 on my spine, some in my neck, pelvis, arms, hands, legs and feet, including a very large one in my left leg. I was having regular MRIs to monitor my tumours, until the pandemic happened and all of my appointments were cancelled.

I began to experience new symptoms and worsening of old ones. I spent each morning vomiting. I spent each day feeling exhausted, nauseous and dizzy, experiencing memory loss and brain fog. I spent each night awake in pain and not able to sleep. I mentioned all of this to my clinical nurse, where she eventually arranged for me to have an MRI of my brain. Not long after this, I got the dreaded phone call—some of my brain tumours had grown. The tumours that had grown were now pressing on my brain stem. My doctor reassured me, telling me these tumours were slow growing, but I would need a craniotomy and radiotherapy to alleviate the pressure on my brain stem. I was just about to start my final year of college and we agreed it was best to wait till after graduation before starting treatment.

The months that followed were torture, looking back I don’t know how I got through them. I felt miserable all the time. I tried to hide it and stay positive, but that was harder as time went on. I was alive, but I wasn’t living—I was merely surviving. As my friends were all preparing to graduate and get new jobs, I was packing a hospital bag for brain surgery. I was so excited to start my career after putting in so much hard work, but now my whole life has been put on hold and it was completely out of my control— I felt defeated and useless. The day of graduation was very bitter sweet. I was so proud of my achievement, but I was dreading what was coming next.

After over a year of waiting for a bed on the neurosurgery ward, I finally got my craniotomy to debulk one of my tumours, a week after graduating. In the early days, it appeared that the surgery went well, I even got to go home for a few days. Within three days of being home, I began to deteriorate and ended up back in hospital. It was eventually discovered that I had a CSF (cerebrospinal fluid) leak. CSF surrounds and protects the spinal cord and brain. The brain, spinal cord and CSF are protected by three membrane layers. A CSF leak can occur when these membranes are damaged. In my case, the dura (the outermost membrane) was torn during surgery causing the CSF to leak. The CSF was pooling at the back of my head for a month, causing a large swelling known as a pseudomeningocele. The pooling of CSF caused an increase in intracranial pressure which resulted in me experiencing dizziness, nausea, vomiting, photophobia, pain and lethargy.

It took two weeks and two hospitals to diagnose, meanwhile I was in agony and desperate for relief. As time passed, my symptoms worsened and it became evident that surgery was needed. One surgery turned into four and ten days in hospital turned into almost fifty. I was left completely traumatised by the whole experience—it felt like anything that could go wrong, went wrong and there was no end in sight. The radiotherapy I was due to have was postponed due to the many, many setbacks. Words cannot describe the happiness I felt when I was finally allowed to go home to my family.

Living with a rare disease can be challenging for many reasons. The lack of knowledge and education regarding rare diseases within the healthcare system makes it much harder in my opinion. I constantly feel like I have to advocate for myself and fight for everything. But through this journey, I have learned I am passionate about educating myself, advocating for others and doing whatever I can to make a change.

I try not to let NF2 control my life too much, but the reality is that my condition is constantly fluctuating—I will only progress and I will deteriorate as time goes on. I try to take each day as it comes and listen to my body. Being diagnosed with NF2 has made me extremely grateful for the little things in life, as tomorrow isn’t promised to anyone.




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