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Unlike many of you, technically our trisomy journey didn’t start until Lewis was 3 years old, well at least that is when we knew what we were dealing with, prior to this our journey was one of unknown quantity just an endless round of appointments and tests all coming up negative.  It was a tough 3 years, 16 days in SCBU, coming home, developing a dairy intolerance, severe oesophageal reflux, possible meningitis, severe respiratory tract infection, Malory Weiss tear, medications for this, for that and food thickeners, extra calories the list was endless in the first couple of years.  Our paediatrician was very proactive and was quick to follow up any research we made and to also refer to a local geneticist and then Great Ormond street.  Just prior to going to GOS Lewis underwent an Orchidopexy and a skin biopsy, not his first anaesthetic nor his last, he recovered from the surgery well and we headed off to GOS in the March, lots of tests and pictures were taken, they were baffled.  By this time, I was pregnant with baby number 3 and undergoing extensive testing myself so when I got the call one day from GOS to say we have found it, Trisomy 18 and that was how they left us.  I rang Nick straight away and he researched it and found SOFT UK and even better a conference in Northampton just a couple of weeks later. 
Since that day our lives have been a roller coaster both medically and educationally, Lewis was in a mainstream pre-school and while it was evident there were some cognitive issues at 3 he was physically up with his peers although he tired easily.  At age 4 he was poorly and a day case admission turned into a 10 day stop with paralytic ileus, bleeding, infection, blood transfusions you name it!  He started Main Stream school in the September and this was when the problems really started.  Following a really tough 18 months in the local village school where they completely denied Lewis had any problems, we removed him and his elder brother to another local village primary school and wow what a difference.  Lewis stayed at Helmdon Primary School until he transferred to Secondary school age 11, this time however having had a Statement of Educational Needs since the end of year 2 we secured a place at a fantastic Special Educational Needs provision in Northampton – Northgate School Arts Academy where he has thrived.  Medically during this time more ups and downs, hypothyroidism diagnosed, testicular failure diagnosed along with an ongoing Sinus Bradycardia.  Lewis has always felt the cold and nothing has changed.  Then we hit 16 and Post 16 education sadly Northamptonshire would not fund our first choice but Lewis has settled into Northgate’s Post 16 provision, The Beehive and we are not giving up we will get him to our first choice at 18 so watch this space.  He is doing well though and the staff are thrilled with his progress.
Health wise we are currently undergoing further investigations into the Sinus Bradycardia following a faint one day and being found breathing but totally unresponsive the next and his heart rate being possibly as low as 35 bpm.  So bloods, 12 Lead ECG have been done and as I write this we are waiting for a wearable recording machine/ event monitor to be available and an appointment for an EEG.   It just means we are on edge when he has a shower and I can’t get him to make me a coffee anymore, well until we have got to the bottom of what is going on.  Bearing in mind he has low platelets he won’t be able to be in the kitchen alone (we’ve just put tiles on the floor).  Lewis being microcephalic is also undergoing investigations as to why – yes it is linked to Trisomy 18 but our geneticist has sent his blood and a further skin biopsy to Andrew Jackson in Edinburgh.  The geneticist has also confirmed the diagnosis of Mosaic Trisomy 18 in order to satisfy herself as she was not the geneticist caring for him at the time and she wanted further confirmation.  
This said Lewis remains a cheeky, stubborn teenager who is selective mute when he feels like it that loves Lego and technology, so the iphone etc are never far from his side if ever!
Lewis' mum Helen spoke at our 2019 Family Day about their experiences of caring for Lewis.  She has kindly allowed us to share her presentation from that day here.

Created: 30/01/2019 16:41

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