UCD 2021 – Maura’s story

Hi I’m Maura and I live in Draperstown, Northern Ireland with Ronan and our five boys: John 24, Ryan 23, Shane 21, Ronan 19 and our semi-graduate swan Jack who is 12.

Jack was diagnosed in January 2018 with RYR1 myopathy which is related to muscles, and another condition linked to it malignant hyperthermia which causes problems with general anaesthetic. The HECW2 gene in Jack explains his absence of speech and his learning difficulties.

These two syndromes don’t explain all of Jack’s difficulties and therefore we are awaiting results from the 100,000 Genomes Project to see if there is a possibility of another disease or syndrome. So, having two rare diseases already with the possibility of a third, he is most certainly at the top of the list for being one of a kind.

It’s been a long journey for our family trying to find answers and to get support and when we found SWAN UK it was such a relief. We have been a member for nine years now.

Those first few years with nowhere to turn to for support and advice was so hard but as soon as we joined SWAN UK we just fitted right in and it felt great.

We had support 24/7 with complete strangers who turned into wonderful friends, we made friends for life with people who were on that same journey as us, SWAN UK organised days out for us as a big group to Dublin Zoo,,Tayto Park, The Donkey Sanctuary and many more places. Days like these were so important because we got to meet face-to-face and share our experiences. Talking with these new friends who we had maybe only spoken to via a Facebook group for a few months felt amazing, it was as if we had been friends for years.

Our journey isn’t over yet, it may well never be over and even with a diagnosis it may never give us a place where we belong because Jack is so unbelievably unique. But we will always belong as part of the SWAN UK family.

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