I bloody love Twitter. I joined it in 2009 and confess, at first, I didn’t know how it worked, who to follow, what the appeal was. I was really into Facebook at the time, and also member of a now defunct forum called FirstFoot, so my social media needs were being well met, thank you very much. I have to thank sincerely @robertflorence and @iainconnell for really getting me into Twitter and can’t say how many great people I know online and met in real life because of it.

Last night on my Twitter timeline I came across a tweet by Wee Moo ( @clairetheweemoo ) about ‘person’ ( @vic_person ) telling a funny story about having a gynae exam. Call your ladyparts what you will; foofs, vajayjays, chuffs; it was just a joy to read. Sometimes, I think, we can be too serious about medical procedures and her story reminded me about my own funny gynae story.

I’m now leaping forward in Joff’s story to 2000, Miss Effie Snr was 7, Joff was 6 and Mr Effie and I finally decided we were now in the position to try for a third baby. I was especially conscious of my own age, and the increasing risk of Down syndrome, along with our own risk factor of 25% chance of having a second child with Lowe. Luckily for us, work by the amazing Dr Robert Nussbaum and colleagues in the USA meant that there was now a highly reliable biochemical diagnostic test for Lowe, one that could be carried out on a placental sample. Dr Nussbaum has been closely associated with the Lowe Syndrome Association for over 30 years. I love him.

So we worked with our lovely geneticist to plan our third pregnancy, the testing, the potential decision making thereafter. I fell pregnant in October 2000 and the plan to test the placenta was scheduled for 10 weeks, by which time I had been hospitalised for a week and put on a drip for hyperemesis, which happened with both our girls, but not Joff, oddly enough.

The day of the test arrived. The sample would be taken using ultrasound to guide the doctor, and some of those cells would be tested primarily just for the sex of the baby. If a girl, then, yippee! If a boy, the sample would be cultured and sent to the USA for biochemical testing, telling us if the baby had Lowe or not. It’s a moot point now, but we had thought and talked about it very deeply and decided we would not keep another boy with Lowe. Perhaps that shocks some people, and thankfully we never were put in that position. It’s one thing saying it and another to carry that decision out, but by then we had seen some of the vast range of challenges that boys and men with Lowe face, and no one could say with any confidence how severely a new baby would be affected.

Technology has since moved on apace, now families like us can avail themselves of PGD – pre-natal genetic diagnosis, where the cells of an in-vitro embryo can be tested before the embryo is implanted, thus virtually guaranteeing a boy free of Lowe.

We were sitting in the waiting room, me drinking water to help the ultrasound and the doctor called us in. We went from the busy corridor with bright fluorescent lighting to a large darkened room only dimly lit by the screen of the ultrasound and walked toward the bed. I didn’t take in the surroundings at first, so when the doctor asked if it was ok for medical students to observe and I said yes, she waved vaguely towards the back of the room by way of introduction, where 6 students stood silently in two rows of three, all in white coats, like some weird kinds of meerkats on guard. They waved back and muttered ‘hi’. I immediately got the silent giggles.

The doctor asked me to undress behind a portable curtained screen. the curtain was a clean, non-descript pastel material, but the paint had definitely seen better days. Mr Effie whistled silently through his teeth. Being an engineer, he had some appreciation of how much money was invested in this very specialised ultrasound equipment. I remember thinking how glad I was that the priority was the good machine and not nice paintwork. I got up on the bed and the doctor proceeded to prepare for the test. A nurse was also there to help. The doctor took a sample of the placenta and scurried to have a look at it in the Petri dish. Sorry, she says, I need to do it again. It wasn’t the worst thing I’ve ever had done, but it wasn’t nice either. I tensed somewhat, becoming suddenly absurdly aware of the 6 students silently watching me. Can I have some more light here please? asked the doctor, and the nurse’s serious face duly appeared over the doctor’s shoulder, shining a £15 Halfords box torch up my foof.

Well, no-one told me I had a nice cervix, or wonderful ovaries, but a second good sample having been collected, I got dressed behind the screen while the doctor completed her part of the test, I was silently shaking with suppressed laughter, relief, nerves and the pure absurdity of the situation. The irony of getting dressed and undressed behind a screen and showing everything I have in between was strong. Even stronger was the contrast between the expensive ultrasound machine and that £15 Halfords box torch, Box. Torch. Oh man, I crack myself up.

That test was done on a Wednesday afternoon at 2pm. The next morning at 9:15 the doctor phoned to say the baby was, indeed wee Miss Effie. Yippee!

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