Tuesday, June 27, 2017

Case Study # 28, Sophia Pafitis and her Story of a Sympathetic Nerve Schwannoma (Originally suspected to be a Vagal Schwannoma)

Hello all - and welcome to the 28th of our case study series!  This one features our dear friend Sophia Pafitis, from Australia.  In this Q and A Sophia shares her story of going through the diagnosis experience while her doctors believed she had a Vagal Schwannoma, and how she ended up in the surgical hands of Dr. James Netterville.  Sophia's story took her from Australia to Tennessee, in the states - and to the eventual discovery that she in fact did not have a Vagal Schwannoma; she had a Sympathetic Nerve Schwannoma.  We thank Sophia so much for sharing this experience with us.  And we join with her in the hope that this narrative is helpful to those who may need it. - Neil 

*Note, we stress the Dr Netterville used the technique of Intracapsular Enucleation on Sophia's Sympathetic Nerve Schwannoma.  This is a surgical technique he commonly uses on Vagal Schwannomas. 
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1) How old were you at the time of your diagnosis?
 Saturday 29th March 2014 - 3 months after my 21st birthday

2) Do you have any history of Schwannomas in your family?
No - None that anyone is aware of.

3) Where was your Schwannoma located? And what were the symptoms that lead to your diagnosis?
My Schwannoma was in the base of my skull deep behind/under my left ear. It was so large that my neck was visibly being pushed out and my jawline less defined.
The story of my diagnosis was an ordeal in itself.
The symptoms that lead to an emergency MRI that discovered my tumor were headaches, poor special awareness, dizziness, nausea, and the feeling of muscle weakness/fluid at the back of my neck/base of skull.
At times, I became so weak within an instant that I felt too weak to hold my own head up. This gave me a kind of nausea I’d never experienced before.
I went to the Emergency room in a public hospital, I waited 3 hours, was asked to walk in a straight line by the doctor seeing to me, and was sent home with the diagnosis of a ‘migraine’ – no explorative scans were taken. I knew this wasn’t right.
The next day, my spatial awareness, which had been getting slowly worse over a period of time, was so bad that I was walking into walls that I could see were there in front of me.
I took myself to a private emergency room and was given explorative MRI’s immediately. I was so nauseous at this stage; I had been given anti-nausea medication that made me really drowsy and delirious, like I was on drugs. This sense of confusion made the process all the worse.
My doctor read my scans before the radiologist had – he came and told me he couldn’t see anything, and that I should be fine to go once the radiologist checks off on it. I pulled my IV out of my arm, put my shoes on and packed up my things. Within no more than 5 minutes, the same doctor walked back into the room and said “I am so sorry, the radiologist has looked over the scans and you have a large tumor in your head. I was looking for fluid in the brain and completely missed it. You need to call your parents and tell them to fly to Melbourne immediately.”
I actually thought the whole thing was a joke, my girlfriend and I looked at each other and laughed, I said to the Doctor “Is this a Joke? 5 minutes ago I had a migraine?” This was met with a sobering, “No, this is not a joke, it’s really serious”.
I remember it so clearly, that very second was such a pivotal point in my life. Once my friend and I had processed what we heard, we stared blankly at each other and burst into tears. I called my parents who were in Tasmania, they were beside themselves and desperate to get as much information as possible. I had nothing more to tell them than ‘huge tumor in my head’ before being rushed into an emergency CAT scan. I remember sitting outside the hospital between scans with my girlfriend and I said “my whole life is about to change,” and oddly, I felt really calm.
The craziest part about my diagnosis was that the symptoms I was presenting with were COMPLETELY unrelated to my tumor. A neurologist that saw me after my CAT scan told me this, and I almost didn’t believe him. I would later be diagnosed with an autoimmune/neuromuscular disease called Myasthenia Gravis one year later, which is responsible for the symptoms I was experiencing.
Because of this disease and the tumor, both of which are really rare – it was sometimes hard to identify which was responsible for what I was experiencing.
The most noticeable symptoms I had from my tumor were the occasional but debilitating nerve pain at the base of my skull, which radiated up and around my head. There was no way to relieve this. I can only explain it as hands of fire trying to rip my neck open.
I had also been showing early signs of Horners Syndrome for years but hadn’t picked up on it – my left pupil is almost always constricted while my right dilated. I also can’t sweat or flush on the left side of my face – only in the tip of my eyebrow and side of my nose. If I’m in a hot climate or doing a work out, the entire left side of my face won’t flush or sweat, it’s like a vivid line down my face.

4) Could you describe, in whatever detail possible, what kind of surgical treatment was performed?
My family and I saw a total of 6 surgeons around Australia. It became more and more apparent how rare Vagal Schwanommas are, and how inexperienced the surgeons in Australia were as a consequence. I was the youngest they had seen or heard about with a tumor like mine. The biggest concern amongst all of the surgeons was my ability to speak and swallow post surgery. The voice box/chewing/swallowing seemed to be the main focus. There wasn’t one surgeon I spoke to that made my family and I feel as though I was in experienced, confident hands – because I wasn’t.
The only surgeon we found in Australia that had removed a tumor like mine was in Sydney, and I left that appointment feeling more depressed and helpless than I ever had. I saw he had photos of a daughter who looked to be of a similar age to me in his office – I think it’s easy for surgeons to emotionally disconnect with patients – as of course you would as a coping mechanism, so I asked – if it were her in my position, what would he advise? His face was enough of an answer, he truly didn’t know, and that was never going to be enough for me.
My Mum is the hero in this story. We were told from the outset – they have to sever the nerve to remove the tumor. This method of removal doesn’t allow for ANY hope of nerve preservation, as it’s essentially cutting the nerve clean at either side of the tumor.
In my Mums research, she started reading into a method of removal called Intracapsular Enucleation, which involved cutting the nerve vertically in an effort to ‘scoop’ out the entire tumor whilst preserving as much nerve function as possible.
I asked about this method of removal to 2 surgeons in Australia and it wasn’t even acknowledged or explored as a plausible option.
This lead me to find the schwanomma Facebook support group – which would ultimately result in me getting in touch with Dr. James Netterville in Nashville, Tennessee. It became really apparent that Dr. Netterville and his team were pioneering this method of removal and having amazing results doing so. He’d also done 200+ of tumours in the same/similar area as mine, as soon as I spoke to Dr. Netterville myself, there was never going to be anyone else. Not only is he the most talented, experienced surgeon I had come across, but he is truly one of the kindest, caring men I have ever met. He felt like family.
6 months later – my tumor was removed by and Dr Netterville on the 27th of July 2016. It wasn’t until they started the 6.5 hour surgery did they discover it was in fact a Sympathetic Schwanomma – not a Vagal as all surgeons and radiologists had initially diagnosed, and it was also larger than the scans had shown it to be.
I would say that my surgery was an epic success.

5) Having gone through the experience, what do you think are the most critical questions for someone to ask their doctor about surgery and treatment of this kind of Schwannoma?
- Have you ever removed a Schwanomma? (if the answer is no, I would stop there) - How many?
- What method of removal do you use/ how will you try and preserve my nerve function?*
- What was the success / ability of your patients post op?
Also, ask yourself if you feel like they genuinely care. Being a surgeon is seriously tough gig, and mostly they have little to no bed side manner in protection of getting emotionally attached to patients and how draining that can be, but you should feel and KNOW that they actually do care. You’re entitled to that.

6) Can you describe what the recovery process was like for you – if you feel you have made a positive recovery…and what things you have done that have been of the most help to you?
Recovery was tough, mostly because it was a surprise - the diagnosis had always been a vagal schwanomma, so my expectation of risk and side effects were largely associated with loss of speech and ability to swallow. I had accepted this and was mentally prepared for it. I even signed a contract acknowledging it before I went into surgery.
Turns out, it was a sympathetic schwanomma, which subsequently comes with different risks and side effects, mostly associated with the damage of the sympathetic trunk.
My surgeon was pleased to find it was in the sympathetic nerve, not the vagal, as sympathetic generally have less ability-altering side effects.
I woke up and my entire head felt completely off. I couldn’t feel the left side of my face and was struggling to see out of my left eye and I couldn’t figure out why. The two rigid drainage tubes coming out of my head still make me shudder at the thought.
I saw myself in a mirror and was totally deflated. I was still coming off 6+ hours on anaesthetic and felt like I’d been hit by a truck, but I realized my vision was impaired because my eyelid had completely dropped, as much as I strained to pick it up I couldn’t. I didn’t recognise myself at all.
The swelling makes you stiff, saw and really tender, I found myself naturally sheltering myself from hugs, anyone walking near the left side of my body – any physical contact.
10 months on, my swelling is largely gone and my side effects are the same as when I left the US post surgery – except I recently had my droopy eye fixed with an easy, minor surgery.
I have 3 main issues as a result of surgery:
1: Facial paralysis on the left side of my face, neck and ear. This isn’t noticeable to anyone, I can move my face, I just can’t feel it.
2: Horners Syndrome in my left eye, along with all the side effects it comes with. This process had already started prior to the surgery, but it’s now quite pronounced. My left eyelid noticeably droops and worsens when I’m tired; my pupils are almost always different sizes, if I work out, the color of my face is completely split into two, no redness in the left. I sweat in my eyebrow and tip of my nose, nowhere else.
3: First bite syndrome – This is pretty horrible. Every time I put something in my mouth, whether it’s my toothbrush, a drink of water or food, I get what feels like electric shocks powering down from the top to the bottom of my jaw, my nerve seizes up and precedes cramp - this process happens in under a second. The pain can be so bad that it takes your breath away, and makes the food drop out of your mouth. It doesn’t last a whole meal, the first 2-4 bites are the worst (hence first bite), but I usually need to stop and take a moment before I continue to chew on the non-affected side. My relationship with food has changed since surgery as a result of this. My palette is also extremely sensitive to sweet and sour tastes.
I would say that my surgery was an epic success.

7) Are you able to do all or most the things you did before?Yes! The general recovery + my disease are actually my most limiting things day to day. I don’t eat sweet things in a bid to avoid the pain of first bite – but other than that, I’m HUGELY fortunate.

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