My story - NTRK3 Gene Fusion, extrathyroidal extension, involvement of subclavian and carotid.

NTRK3 Gene Fusion, Extrathroydial extension, involvement of subclavian and carotid.

Hello everyone, I was a relatively healthy 33 year old until around 4 months ago when we received the news most people dread.

I feel it’s very important to share my story as unfortunately, I help account for the very rare 1% of thyroid cancers and have had a relatively rough route to diagnosis and treatment.

I’m putting this here to help anyone else in a similar situation, not to scare anyone. writing it all out here is doing wonders to help me make sense of it all myself and although there have been some failings along the way, I cannot stress how fantastic the current team around me are and how important we all agree self advocacy is.

My story begins in April 2024.

It all started when I was experiencing pain in my right shoulder very similar to muscular/nerve pain which we attributed to a bad sleeping position.

I tried treating it with the usual remedies such as balms and heat/ice packs, these seemed to help at first but their benefit soon wavered and the pain was becoming distracting.

I spoke to my GP around a week after this pain started and I was referred to the Pharmacist as ‘this is not a doctors issue’, a statement which baffled the Pharmacist who advised me to see the GP again.

At this point I had enough and decided to leave it as the pain had began to subside somewhat.

In August 2024 a lump appeared which we all attributed to a Goitre as my Grandmother has had thyroid issues in the past resulting in a thyroidectomy. Shortly after the lump appeared, I completely lost my voice which has never happened in my entire life even through sever tonsillitis episodes. This lasted for three weeks with little improvement.

During this time I consulted my GP again who felt a large mass and referred me for bloods and an ultrasound, as there was a long wait for this we decided to get a private ultrasound done for peace of mind. The private ultrasound (almost 45 minutes of scanning and pictures) resulted in a likely prognosis of Hashimoto’s Thyroiditis and ‘nothing scary’.

We sent this result and the accompanying images to the GP who refuted this as the bloods came back ok apart from slightly elevated white count. I was then put on antibiotics for 5 days and wasn’t tested thyroid hormones until I reminded her of the scan result, its baffling why the thyroid hormones were not checked originally.

The ultrasound the GP sent me for finally came back with evidence of Hypoechoic nodules with micro calcification and no fatty Hylum present alongside no hypervascularity. This result then trigged a FNA and a CT scan. We then got the call that no one wants, the ENT surgeon called me in and told me it was Cancer.

At this point it was of unknown origin, he said he really didn’t believe it came from the thyroid and it was ‘the most aggressive I’ve saw’, it was wrapped around my Carotid artery, my Subclavian artery and around three inches from my heart :D

I had another biopsy within three days, this time a core biopsy, this one especially sucked as they went to four different sites and under the strap muscle under my clavicle.

We then found out it had moved to my lungs and that the cancer was not considered curable at this point, with an operation being very tenuous due to the position and severity of the tumors, there was also talk of anapaestic at this point with no reassurance it wasn’t.

A second opinion was sought from a more advanced centre, the whole time I couldn’t stop thinking about how I’m going to die very quickly, and if it wasn’t that, it was the associated morbidities with the surgical resection to remove the cancer. These included but are not limited to, ALLLLL the strokes, loss of the use of my right arm due to compromised blood flow, complete vocal paralysis and also that there may be enough nerve damage I’ll need a permanent trach.

I was then called into the centre from which they had sought a second opinion, we met with one of the top vascular surgeons in the country who initially assessed my arm movement to see what nerve damage had occurred, he seemed very surprised that my arm was acting the way it always had for the last thirty odd years.

It was at this point he stuck that lovely scope up my nose again and informed us all that the right side of my vocal chords were completely paralysed and that was the reason I was having a dry cough and slight breathlessness sometimes (which we all attributed to a case of bronchitis). He was again surprised how well I was compensating with only half a voice box.He had already sent my biopsies which came back as well differentiated papillary carcinoma off for molecular testing as they were very concerned about BRAF v600e and some other being at play. They were so on the ball that they were even communicated with the fertility team to arrange a meeting before I had even raised any concerns regarding this.

My particular case presents a pretty tricky situation in which any treatments to shrink the tumor can result in damage to the artery walls which is obviously pretty catastrophic. At this point we had been discussing these ad nauseum.

Fast forward to results day which was last week (mid jan 2025) I got a call from the surgeon asking me to come in the filling day and to bring my partner and my mother with me. He did not sound his usual cheery self.

When we arrived at the hospital the next day after a horrible evening of catastrophising again and wondering what else was going to screw us, however, he seemed in very very high spirits!During this meeting we finally got to meet a fantastic oncologist who had been looking at our case in the background and is pretty much the go to guy.They had been very, very pessimistic and not looking forward to seeing us that day (his own words) until the final genetic test returned. We saw my scans for the first time and also discovered there was potential cancer on my c6 cervical vertebra. However, they did not seem concerned - for once!

I was negative for all mutations aside from a NTRK3 Gene fusion.This lovely mutation is present in less than 0.5% of all solid tumors across all types of cancer. This, another holographic card stacking on top of an already shiny pile of Pokemon cards actually worked in our favour this time! This meant I qualified, after having a brain scan, for a drug called larotrectinib. This promising drug is a throsine kinase inhibitor that has been shown to even work on anapaestic cancers pending this gene mutation being present.

I have received this drug today and have taken my first dose. The hope is that this will shrink my tumor enough to make surgery more viable and come with less risk of morbidities. I now have to have regular blood tests and scans to track the effectiveness as there is still a chance that, even with this mutation, I will not respond to this treatment. But fortunately, the median time to see if it works is around 1.9 months, the max being just under 12. It is also favourable that, out of all the treatment options available, this one come with the most palatable side effects with most listed as grade 1 (mild) and some grade 2 (mode4rate).

Now it is a case of wait and see. I have everything crossed that this will work, as other treatment options are extremely risky due to the size, position and spread outside of the thyroid.

Thank you for sticking with this story - I know it’s a long one. I hear constantly that thyroid cancer is the easy cancer. Is any cancer easy? Even without complications? No. It effects you not only physically but mentally too.

I wanted to stand up and tell my story as I am part of the very small percentage where this cancer does not have the best prognosis. To look at me, you wouldn’t think anything was wrong. I have barely any symptoms apart from a horse voice. Please make sure you fight for yourself. There were so many times in this journey that people told me I was ok and I could have believed them, and very nearly did. Trust your gut feeling.

xx

TLDR; Thyroid cancer NTRK genes kissed and now PTC is treating my major arteries as a slip ’n slide. Started a new drug called Larotrectinib that costs more than spaceships. Fingers crossed.