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The title of this post describes the nonsense mutation we have in our family, in the amplimer for exon 11 on the OCRL gene, q26 on the long arm of the X chromosome, normally coding for phosphatidylinositol polyphosphate 5-phosphatase which is involved with inositol phosphate metabolism (KEGG and REACTOME), clathrin derived vesicle budding, metabolism and the rho GTPase cycle. The OCRL gene was present in the common ancestor of animals: the mouse, chicken ( Gallus gallus )(how apt is that??) lizards, African clawed frogs and zebrafish.

Most of the above I’ve had a nodding acquaintance with for 17 years or so… but the intimate knowledge of having a son living with OCRL has now reached 21 years.

The Bold Joff is ineffable, and I’m frustrated beyond belief at my inability to capture him on paper, his way of living beside us but not of us. How complex he is to understand, but how simple, and largely content, a life he leads. How just observing his wee face for a few moments and see expressions that you don’t understand constantly flitting across his face, but never mirroring us. That, sometimes, he is so completely unconsciously comical and if you laugh at his expression, he sometimes conspires to laugh along, but he has no idea why you’re laughing. And he probably doesn’t know why he’s laughing either.

I haven’t always been wholly grateful for the service of being his full-time carer. I’ve been resentful at times in the past of some of the drudgery involved, fighting the system and how the rest of the world feels like it passed me by. I’ve not lived a normal life, and there’s not another soul in the world who knows exactly what that’s been like. I only hope that I’ve done my best to give him a good and happy life so far and kept the bad times to a minimum.

Just spend a scant few days away from him, the need to connect to that simple and beautiful wee soul of his is overwhelming and I realise what an utter gift he is. I am grateful. Everyone should have/know a Joff.

Happy 21st Birthday, The Bold Joff. May you have all the sunshine, num nums, side-to-sides and raspberries you could ever want.

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