It's been a while since I've posted on my blog so I thought I'd let everyone know what's been going on.
The geneticist finally confirmed our diagnosis of x-linked Alport Syndrome. The biggest surprise was that it had come from my Mum's side of the family, not my Dad's. There was some initial confusion about this as various past members of my Dad's family have had kidney disease. It turns out this was a red herring and nothing to do with Alports. So my Mum has Alports and it has now been confirmed that her kidney function is declining; something she was previously unaware of. At least she's now in the system and will get the care she needs.
We now know what to expect in terms of the boys' future kidney failure and it isn't pleasant. We also know that there's a 50/50 chance they'll need transplants before age 20. We suspect this will be the case for our sons as Joseph has visible blood in his wee, both boys' hearing loss was early in life and Joe's urine protein levels remain high, despite the fact he's now on medication. Which are all poor prognostic signs. We don't know for certain but the likelihood is they'll be unwell during their mid to late teens. It would be great if the medication delayed this til their 20s, after leaving school but at the moment we just don't know. It's very much a wait and see.
I felt very sad on the first day Joseph began taking medication because I realised he will be on medication of various kinds for the rest of his life. As will Evan. Currently it's just to protect renal function and slow the progression of kidney failure but inevitably that will increase. As kidney function declines, the boys will go on renal diets, they'll most likely become severely anaemic so will need extra iron, there'll be calcium to offset the effect of kidney disease on the bones (to stop them getting rickets, the consultant said). They'll introduce phosphate binders to aid the success of the renal diet and they'll be given growth hormones if they aren't fully grown by the time this all happens. Plus there'll be medicines to help with them actually feeling unwell And then there'll be heavy duty medication prior to the transplant, then afterwards to stop the organ being rejected. It's no party, having Alports and all medical attention is focused on treating the symptoms because nothing can be done to stop it.
It often feels incredibly harsh and unfair, yet at the moment, both boys are well and they're happy. Despite all of this going on in the background, they are both excelling at school. Joseph will be doing level 6 SATS next year as he's extremely bright and capable (brief Mumbrag there, I do apologise!) Evan is the same in his own unique way. Their hearing aids have really boosted their learning and the school and audiology team have continued to offer first class support. I'm extremely proud of them both and it feels so unfair that a few genetic spelling mistakes have resulted in all of this.
As you might imagine, all of this has taken a huge toll on my mental health. That's why I've been so quiet, I've actually been really unwell. I'm now getting the right kind of help but it takes a bit of time. I've been grieving, I suppose; dealing with the loss of my children's health (and potentially my own, since I have it too. And then of course there's my Mum). It hasn't been an easy time at all. On the upside, for now we are all physically well enough to live as positively as we can. As soon as my mental health permits it, I'll be properly back at work. Life goes on, because it has to.
