14 March 2016

Rumer's Story, part 8

Genetics appointment, amnio and a wedding!

Wednesday 3rd to Sunday 7th June 2015
22 to 23 weeks pregnant

So we went to the Genetics appointment, which was on a different site to the maternity appointments. It was a much older building, and much quieter. It was an interesting place. We admired an art piece on the wall that used stripy socks to represent chromosomes. I still have an ambition to make one myself, but with three copies of chromosome 18.

We waited in the deserted and spacious waiting room for the consultant, Dr Miray McClellan, who eventually called us through. She couldn't shed any light on any genetic defects which might cause these anomalies (see her letter below). I suggested trisomy 18 as a possibility, and she acknowledged that it could be, but it could also be one of many other genetic conditions. We'd filled in a genetic history form, but there wasn't much that was relevant. We did mention a possible link we'd found between scoliosis (a condition that runs in Chris's family) and diaphragmatic hernias and she said she'd look into it. By the time of the appointment, we'd already decided to opt for amniocentesis.

So the next day we headed into George Donnachie's clinic. Claire Kennedy was there again and we said we had decided to go for amnio. They were very encouraging and prepared to do it there and then. We hadn't planned for that, especially as it was 3 in the afternoon and, being precious first-time parents, intended to take every precaution, including travelling home carefully in the car and (we'd come by train that day). George then offered to do the amnio the following day after he'd been to a conference.

We'd read up on amnio and discovered that a competent operator performs more than 30 procedures a year, but the risk of miscarriage drops for those that perform more than 100 procedures a year. We also knew that hospitals and operators had their own risks, but when we'd asked that last week, we'd had the straight line of "We quote the standard risk", and they were absolutely unwilling to give the hospital-specific risk. We therefore asked who would do the procedure and George proudly said, "I will", as if that was enough. So we asked how many he did a year and he stated, "More than 30!" We asked, "More than 100?" He looked a bit crestfallen, gave the midwife present a bemused look and, humouring us, asked her if they could find the hospital statistics. They discovered that even if George performed every single amnio in the hospital for the year, he'd struggle to get 100 procedures in. We agreed that we were happy for him to do it.

Rumer at 23 weeks (9th June 2015)

So on the Friday, we turned up on time. George glid through the waiting room, flashing his grin at all and sundry in his usual charming way, very smartly dressed for the conference I assume he'd been to. He invited us into the room and proceeded to perform the amnio still in his shirt and tie. He did it easily and they sent the sample off. It didn't hurt. Chris drove me home avoiding all the bumps and I lay in bed. The next day was Chris's sister's wedding, which unfortunately I now wasn't able to attend.

I spent the Saturday in bed doing nothing while Chris attended the wedding; I didn't even get up to make lunch. Chris brought sandwiches on his way home. He was starting his week of night shifts at work on the Sunday night; we hoped for the initial results (reporting on the three most common trisomies - 13, 18 and 21) on Tuesday, but knew that it could be Wednesday. If the initial FISH results were clear, we would have an agonising two or three weeks to wait for the full karyotype results. I spent a lot of time that week looking up possible genetic syndromes and hoping for a rare one, but my research keeps leading me back to T18.

Genetics letter

Genetics letter, page 1
Page 1
Genetics letter, page 2
Page 2

Scan report

Scan report, page 1
Page 1
Scan report, page 2
Page 2

Amnio report

Amnio report, page 1
Page 1
Amnio report, page 2
Page 2

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