So we just got one of the genetic results back that we’ve been waiting 3 weeks for and the good news is that Joshua’s PHOX2B gene is normal which is great news and means he probably doesn’t have Congenital Central Hypoventilation Syndrome. Apparently this can be diagnosed clinically so they still might diagnose him with it, but I’m counting this as a win (gotta take them where you find them). Currently Joshua is having a couple of good days followed by a bad one. On good days he’ll only have 1 or 2 desats, and only down to the 80’s. Laura and I barely count these anymore but the nurses still document them. On the bad days he’s desatting frequently, maybe 15-20 times a day. Recently we’ve also noticed the twitching, jerking motions that were considered to be seizures so the doctors have increased his Keppra and are “keeping an eye on him”. If by keeping an eye on him they mean doing nothing while he continues to fit/have apneas even though after the last bad day they decided to get an EEG on him as soon as he starts to show signs of having a bad day then they’re right on top of things.

We lost our private room last week too. I’m a bit gutted about that, but I understand. He had a virus and needed to be isolated and now he’s over it and some other sick kid has a contagious virus and needs isolation. It wouldn’t be so bad, but we have the bed space directly outside the room so I can stare enviously at the people inside. It’s so much more peaceful in your own room. Out on the main ward I can’t tell who’s alarm is going off. Every time you hear one you can see several parents check the monitors to make sure it’s not their child.

Back home things are getting back to normal after the Easter break. Isabelle is back in school and I’m back at work. Laura comes up to be with Joshua in the day and I take over after work at night. It works well for the moment, but I’m not seeing Laura or Isabelle as much as I’d like. I guess it just something we have to live with for the time being. I’m also putting on weight faster than Joshua. The combination of not getting to the gym, not cooking for ourselves as we’re always at the hospital and the stress (ok and maybe the extra alcohol, but that’s because of the stress too!) has seen me start to get back to my pre-gym body. Good job I kept my old fat jeans!

4 thoughts on “Another one passed

  1. So sorry Joshua and you all are in this situation it is such a worry . Is this something he may grow out of? I have come across sleep apnea before but only in adults . Will be thinking about you, very tiring . Lots of Love xx xx


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