James and Joanna Nash have two children. A daughter named Keira and a son named Reuben who has Syngap1 Syndrome here in the UK.  We have expressed our wish to help support them in any way we can after James's recent devastating terminal cancer diagnosis. They have kindly agreed to share their story with us and over the next month we will be sharing this journey and fundraising to support them as a family now and in the future.

This is James's story in his own words... 

Cancer Rollercoaster

In January / February 2020 I had noted some major changes in my morning bowel movements, after much pestering from my ever-loving wife Joanna I finally attended my GP who reviewed my symptoms asked for a stool sample (for a faecal calprotectin test) and referred me for a colonoscopy.

I had received the initial paperwork for this and then Covid poked its nose in the way and the colonoscopy was sadly postponed.  So, life carried on with my symptoms gradually getting worse over the following months.  Again, after much pestering I went back to the GP in June as things had really moved on a bit, the doctor again requested a stool sample for a faecal calprotectin test.  The results of which had moved significantly from the one earlier in the year.  The level of inflammation in my bowel had jumped from a reading of 85 to somewhere around 650.  Based on this my GP referred me for an urgent Colonoscopy, I was given some confidence from the GP that the most likely thing I was suffering from was either Crohn’s’s disease or ulcerative colitis, also given confidence that I wasn’t suffering with cancer as results from bloods hadn’t shown anything.

In July I attended my first Colonoscopy, sadly this couldn’t be completed as the bowel preparation I had been given hadn’t worked, so the colonoscopy was rebooked for early August, and I was provided a different bowel preparation.  This bowel prep DID work (not a fun time stay close to a toilet), so on the 3^{rd of} August I attended for the colonoscopy which at the end I thought all was good.  Post procedure I was in recovery and was greeted by two lovely nurses who performed a rather neat pincer movement closing the curtains.  It’s at this point that my mind had gone “Aye aye what’s up here?”, these lovely nurses had the unenviable task of informing me that I did have bowel cancer and advised at that point average life expectancy was 12 to 18 months.

On the 11^{th of} August this was followed up with a consultant who at that point advised that I had stage 4 bowel cancer (spread to liver, lungs and lymph nodes) that was inoperable.  I was placed on a six-month cycle of chemotherapy (FOLFORI) starting late August 2020, in November I had a mid-treatment CT scan, this gave us a real positive message with 50% reduction in cancer mass.  In February 2021 I had another CT scan following the completion of the 6 months treatment, sadly this CT scan showed that the cancer had started growing again with overall growth at around 38%.

I was then moved on to a second line treatment (XELOX), sadly I only managed two rounds of this treatment as the tablets that were prescribed as part of the plan caused me to have a bad case of Inflammatory Colitis and attended hospital in April (I lost a large amount of weight and was thoroughly unwell).  Following a recovery from these side effects and a little extra time to allow myself and my wife (Joanna) to renew our vows I moved onto another form of treatment (FOLFOX), essentially the same as XELOX but without the tablets that has made me unwell.

I’ve been taking this treatment over the last few months although there have been some delays incurred due to bloods not being quite right before some cycles.  During August I had noted a significant increase in discomfort from the old chutney chute and after having several conversations with consultants there was an accelerated CT scan performed.

On the 14^{th of} September 2021 Jo and I attended a face-to-face meeting with a consultant who sadly confirmed my fears that the treatment had stopped working again.  The CT scan showed extensive growth on the cancers and new metastasis in my liver and lungs.  I’m now organising having a colostomy bag (this should make things easier as bathroom visits can come on urgently and not be a huge amount of fun), following the operation I can be moved on to a third line of treatment (LONSURF) but at this point the consultant was being quite clear that the average life expectancy is now 5 to 6 months.  Basically, I need to start getting affairs in order.

So, we are staring at the reality of leaving my wife and two children much earlier than I would like.  There are obviously the additional challenges in that Reuben was diagnosed with SYNGAP some years ago.  I would be lying if I said I was not genuinely scared for his future and the burden of looking after a SYNGAPIAN will have on my wonderful wife.

In the meantime, we will be looking to make the most of what time I have left and leveraging opportunities to create family memories that hopefully will stand the test of time.  We have been extraordinarily lucky to benefit from wonderful local family support, and I have been completely humbled by the amount of love and support that has been coming my way during this difficult time.

I’m ultimately amazed and once again humbled that people within the SYNGAP community have started a fund raiser.  I’m absolutely blown away and thank you in advance to each person who has offered their support or supported the fund raiser

Thanks for taking the time to visit our JustGiving page. 

Dawn, Katrien and Julie - Syngap Research Fund UK

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