another rare and bleak disorder.

I have now been identified as having another rare and bleak disorder. The scary bit is it has nothing to do with my Chiari Malformation and it’s problems – the only thing in common is that my BRAIN is responsible for both.

my dysfunctional brain.

Central Hypoventilation Syndrome

Congenital central hypoventilation syndrome (CCHS) is a rare lifelong and life-threatening disorder. CCHS affects the central and autonomic nervous system which controls many of the automatic functions in the body such as heart rate, blood pressure, sensing of oxygen and carbon dioxide levels in the blood, temperature, bowel and bladder control, and more. The most recognized symptom of CCHS is the inability to control breathing that varies in severity, resulting in the need for life-long ventilatory support during sleep in some patients or all the time in others. There are estimated to be 1000 – 1200 cases of CCHS world-wide. CCHS affects males and females equally. Currently, there is no cure for CCHS.

I didn’t NEED more but i do know that my fatigue and my hours of genuine exhaustion are getting MORE and MORE…sleeping now is generally a long night and a few times a day. This leaves:

  • little “human” time ,
  • little time to be a mammy,
  • rare energy to plan ahead,
  • and fear.

in layman’s terms? It means my AUTONOMIC BRAIN – that’s the bit that controls the involuntary functions, is forgetting to make me BREATHE in fully, and out fully.

Autonomic neuropathy is a group of symptoms that occur when there is damage to the nerves that manage every day body functions such as blood pressure, heart rate, sweating, bowel and bladder emptying, and digestion.

That messes up the levels of my blood gases- oxygen and carbon dioxide…and at night the effect is my levels of OXYGENATION goes into mid 80%s.



I will be using a VENTILATOR. ASAP.

to keep me alive.

am petrified.








    • Dya know its scaring th pants off me Kate. Especially since my neurosurgeon confirmed what I was afraid of – that the 2 conditions aren’t related. :/. So am NOT relaxed about the implications. And doctor I THOUGHT was in a hurry to get me the ventilator and I know it involves a half day tolerance training. But I would rather have it going!!! As it’s his first attempt at trial. PLUS irony is with 2 rare brain disorders I have NO neurologist yet!!! :(.

      • That’s bonkers. How can you have two brain disorders and not have a neurologist? The worrying about it probably isn’t doing you much good either. I hope they sort out your ventilator quickly Helen. :0)

    • A year!!! Wow Neurosciences are a very specialised medical service, but there must be a way of speeding this up. Why don’t you ask for them to call you if there are any cancelled appointments, sometimes that helps if you can go at short notice, then you have your first appointment and that can get you on the treatment list. (that’s if you are able to get there at short notice.

  1. it’s really NOT a joke… but it’s (i think) the worst waiting list nationally. We only have ONE regional Brain Team to serve ALL of northern ireland!…..don’t even start me.!

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