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I found out I was expecting this little bundle of joy in the February, although I always wanted 4 kids I had not planned her.  She started life as a twin; albeit for only 8weeks (second foetus did not develop).  During pregnancy there were no issues, all scans and screening were normal.  I went overdue so I was booked in for an elective induction; the scan pre induction estimated her to be 7lb 4oz and all looked good.

On the 23rd September I came in and underwent induction, Darra whizzed out and had an apgar of 9, 10 within 1 minute.  She was smaller than assumed at 6lb 1oz but no other concerns!!!
We were kept in the hospital for 3 days as I suffered post-partum complications, Darra was feeding well and behaving as a normal baby.

At the routine review for discharge the paediatrician noted a murmur, as she was 3 days old he was a little concerned as a PFO should have closed by day 3.  We went for an ECG and as it showed no irregularities’ we were discharged with an outpatient appt. 
Darra settled in well at home with her 3 siblings and again we had no concerns. During a routine weighing aged 4 weeks Darra was noted to have dropped some weight, I immediately contacted the paediatricians to see if the murmur could affect her weight.  We were seen in the OPD and an ECHO confirmed she had a VSD, she was asymptomatic.  She required no medication and we were referred to the specialised centre.
She was seen in Bristol aged 6/52-the cardiologist suggested genetic testing as VSDs are not a normal occurrence in babies.  He also felt that Darra's small features may be representative of a genetic issue-he was thinking Di George syndrome not Edwards!
Darra was followed up at 3/12 and the echo at that time showed the VSD had got smaller so surgery was not indicated at that time as Darra was asymptomatic and on no meds.  He suggested a follow up in 6 months, we were elated and felt Christmas had come early!!!
Roll on New Year’s Eve - I received an email from the local paediatrician as the genetic tests had come back, she asked to see us ASAP.  We arrived to the outpatient’s department; I knew something was up from the off.

She sat us down and just reeled off the NHS info leaflet on Edwards'.  She said Darra had a life expectancy of less than a year and that she would succumb to cot death or heart failure.  She said to go home and enjoy her and that she would refer us to a hospice.

This Dr had seen Darra 4 times before this day and NEVER suspected anything was wrong but on the back of a blood test she was now signing her death certificate.  I immediately questioned the result and said it has to be wrong.  She examined Darra again and still could not find any of the ‘red flags’ associated with the condition.

The next few days were the most stressful in my life!!!!!

I was on the phone to everyone and anyone-SOFT, Rainbow Trust, GP, health visitor, nursery nurse, families with affected children…
I questioned as to whether I should continue breast feeding as if she was going to die surely breaking the bond sooner than later was best for my sanity.  Darra was also due immunisations and again I thought what is the point!!!

I also worried how I would tell her 2 sisters and brother-aged 6, 5 and 3.5yrs. 

My husband being non medical was unable to help me deal with the bureaucracy that is the NHS so I was very much alone.
I demanded a re-test, thankfully my GP was very good and facilitated a referral to Bristols genetic team (I however had to do the whole process of getting contact details/pathways etc).  I also got our local trust to do another blood test in which more cells were examined; Darra's first test only examined 30 cells which all showed the extra chromosome.  Interestingly (what we learnt after the complaint) the initial blood test did not say the sample came from a healthy baby (aside from the VSD) so they lab assumed the baby was in-utero or had markers for T18 so did not question the results.
Whilst we awaited the retest we had to speed up life, Darra was baptised the week after the diagnosis, holidays to visit family in Ireland were booked, memories were being made in abundance-never took so many videos or photos of a child before.
Two weeks later the results came backfrom the second test, I was sick with worry, I was told that of the 200 cells checked 95% were positive to T18 so the diagnosis was still full Edwards with the same outcome.

We were gutted as I had hoped it was a lab error, having spoken to so many families who said (after I described Darra etc) that there was no way she had ft18. 
In mid feb we saw the geneticists from Bristol, this was the first time we had seen anyone from genetics and this was 6weeks after the diagnosis.  She just looked at Darra and said she’s mosaic, I burst into tears!!!!!!  I was never happier to hear a sentence.  She examined Darra and said she had soft markers-small heels, a slightly prominent occipital, VSD etc.  She took a mouth swab to check cells and that came back at 26% + to T18.
Roll on the months which were a barrage of tests, investigations-all of which came back normal and remain normal.  Aside from slightly elevated LFTs –drs feel this may be normal for Darra and I hope this is true as her uss are clear and she had no symptoms of liver disease.
Darra's first birthday was a huge celebration of life and was enjoyed by all, I was an emotional wreck as I had never allowed myself to accept that I would see that day.  In many ways I still don’t allow myself to accept that she does and should continue to live a normal life, I always fear the worst.
Darra is now 4 years and 4 months old.  She had her VSD repair in 2017 and all went well! She continues to meet all her developmental milestones, is on the centiles she’s been on since birth, no major health issues, no concerns at all. 
She loves her siblings and her dog and has a couple of boyfriends!
We have been to the annual SOFT UK meetings and are so grateful of all the support and friendships we have made.  And ultimately thank god for the internet as the online support groups are AMAZING..

Created: 28/01/2019 18:56

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