I realised yesterday that I haven't written a blog post for quite a while so here's an update of what's been going on with us lot.
First up, some good news. The boys now have their all singing, all dancing, sparkly new hearing aids. Admittedly they don't do much in the way of singing or dancing, but they do sparkle. It was the first day of wearing them to school yesterday and I'm happy to say it all went well. Lots of interested questions from classmates, a fair bit of "take them out and give us a better look, then" and the realisation that school can sometimes be a very noisy place!
I've been really impressed with the way the school have handled the whole deafness thing; they've neither dismissed it nor made it into a big drama. They just see it as some children need a bit of technological and practical support to help their learning and they'll make sure that happens. For Joe, who needs a bit more support than his brother, they're going to set up an FM system that broadcasts the sound from a teacher's microphone directly to his hearing aids, rather than amplifying the whole room. The deaf and hearing impaired team from the local authority will also assess the school's provision to make sure it remains both relevant to and adequate for the boys. Alport's deafness is progressive, so at some point Evan will also need extra hearing support but for now he's ok with his sparkly green ear wear. I'm happy that the school are getting the balance right and are providing practical support to help the boys to get on with all things school related, while we get on with the parenting stuff.
Since I last posted here, a few other things have moved along. The results of several tests have shown that Joseph already has kidney disease. This was a bit of a blow as it moved him from being "at risk" of kidney disease to showing he already has it. This means instead of planning a transplant in the dim and distant future (possibly as late as his thirties), it may well be necessary before he's twenty. End stage renal failure before age twenty means the juvenile form of Alport's and whatever happens to Joseph will also apply to his brother, unfortunately, so the message is very much to get out there and enjoy being in good health!
In the short term, Joseph has a kidney biopsy in a couple of weeks (to confirm the diagnosis once and for all, and also assess the extent of kidney damage). He'll also be starting medication to prolong kidney function, although unfortunately it doesn't stop the problems altogether. On the plus side, we aren't quite at the stage of the dreaded 'kidney diet.' I was told by a renal nurse "it's a lot less grim than it used to be," which is faint praise if ever I heard it! So for now it's a case of a generally healthy diet, no added salt and avoiding the ready made or convenience stuff. Good dietary advice for any of us, really, and thankfully no need to start thinking about weird practices like double boiling the potatoes. Apparently, many of the tricky foods on a renal diet are vegetables, which might mean that veg-averse Joe is better equipped than some to get used to that, when it comes along!
During all of this, I've become increasingly aware of the experimental nature of medicine in patients with rare diseases. The doctors told us that Joe's medication could help delay the onset of end stage renal failure. Note the cautionary use of the word "could," as it hasn't actually been tested for that purpose. There's a clinical trial going on in Germany at the moment but for now it's being used off-label, based on promising laboratory results. That's justification enough for me; it's unlikely to cause harm and it may help. Most importantly though, there's nothing else! That's as good as it gets for Alports, until you need a transplant. Such is the nature of rare diseases, I suppose; they're little understood. At the moment, scientists are getting to grips with the genetics side and it'll be great if that also leads to innovations in terms of treatment. I'm almost tempted to don a white coat and have a go myself, but anyone who knows me knows I'm far too clumsy for lab work!
So there you go, a bit of a mixed bag for us all. We're doing ok, the kids are well and as lively as ever. Evan is enjoying his drumming (the neighbours probably aren't, although thankfully he's now getting pretty good!) We've found a music teacher willing to take on a deaf kid to learn the piano (Joe), so in between that, school and their love of Minecraft, Lord of the Rings, Star Wars and Doctor Who, the Alports stuff doesn't really get a look in. Just as it should be!
