Joff having Lowe Syndrome was a real bolt out of the blue for both me and Mr Effie’s families. Before we even knew what his diagnosis was or how Lowe is inherited we weren’t aware of anyone in our families who had additional needs.

So saying, when I was very young, only about a year old, my mum lost a baby boy due to rubella (German Measles) damage. My mum was of a generation of women who were not routinely vaccinated as girls against rubella and when she caught it whilst pregnant with my little brother, it was an awful time for my folks. That little boy was born with cataracts and severe heart defects, at a time in the mid ‘60’s when heart surgery on babies was not possible, and so he died just 6 weeks after birth.

When Mr Effie and I decided to start our family, and knowing my mum’s history, I went to my GP and asked him to determine my rubella status to double check I was immune. He was reluctant to order such a test at first, but after a wee bit negotiation where I told him I knew in my head I’d be immune, but my emotions needed reassuring about it before I fell pregnant, the doctor agreed to the test. And it came back that I was properly vaccinated and immune to rubella.

And when we decided to try for Joff, I asked for the test again. I know, I know, it was bonkers, but I just needed the titre test done once more just to prove that the immunity hadn’t lessened somehow. Again, I was immune to rubella.

So when the Joff appeared with these bilateral cataracts and low tone, the paediatricians at the hospital jumped on rubella as a diagnosis. Very understandable. Another new mum might have gone along with the rubella damage diagnosis for Joff, but I had the benefit of that testing and that knowledge. I was pretty adamant that it wasn’t rubella – I’d had the titre test done twice in three years… and unless it was wrong, there was no way I’d caught German measles whilst pregnant with Joff.

(In fact, he was by far the easiest of our three kids to carry as I was desperately ill with morning sickness with both our girls, to the point of hospitalisation for extreme vomiting. Joff was also the heaviest and easily the most active baby of our three; the amniotic fluid giving him the support to move freely that he couldn’t do once born. We often joked about “the footballer” I was carrying.)

Much later, once Lowe was diagnosed in Joff, the doctors went on to test my mum’s genetics and it turned out that my mum is also a carrier of the Lowe mutation.

So my wee brother could well have had Lowe, but the addition of severe rubella damage would have masked this rare disorder at the time and with no tissue available to test post-mortem, it’s only supposition now. I often ponder, had my wee brother survived, what life would have been like for my folks back then looking after a child with disabilities. For all the problems modern support services give us now, I’m sure they would have been far greater back then.

And part of the legacy of my wee brother is that our family are massive fans and advocates of vaccination.