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?
*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?
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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After 2 years I can now say "yes". It took a long time to feel like I was completely back to myself. I still get out of breath easier that before and have issues with the area around the tumor "aching" and I lose my voice quicker at games and concerts but for the most part I'm back to myself. And I get dizzy if I have any pressure in that area (like if I hug someone tall...lol) The most significant part of my recovery is that I am able to sing again, which I was told my voice would most likely not be back the way it was before but it is! 
