Donna Williams - Autism in a context of Acquired Central Hypoventilation Syndrome
I had a number of episodes before the age of 3 where I was described by my father as 'blueish'. At around 2-3 years old I was rescued from the bottom of swimming pools, once at the City Baths and rescued by two old women, once at a motel pool where I was rescued by my older brother. I was an extreme breath holder, able to go without breathing longer than any child I knew. In mid childhood I swam the 100 metres length of the Olympic pool at Preston Baths along the bottom. I came up dizzy but undistressed, having greatly worried those in charge of me there. When I gained functional speech by late childhood and became fluent by my teens I asked 'why do other people's brains keep them breathing and mine keeps forgetting'. This was not understood so not followed up.
As an adult, following 7 months of Haemophilus infection, these daytime episodes progressed and I was waking at times to find no respiratory drive and I was dizzy, had a headache and was not breathing. During chemotherapy two years later this progressed and was diagnosed as part of a wider picture of broad autonomic dysfunction but the oncologist concluded this was not caused by the chemotherapy, but that for some reason I had had this autonomic dysfunction all my life and that chemo was just exacerbating it. A few months after chemotherapy it was diagnosed as moderate-severe Mixed Apnea. After moving on to a VPAP ventilation machine and ruling out all other potential causes of this hypoventilation I was tested for Late Onset Congenital Central Hypoventilation Syndrome (LO-CCHS) which has a 42% incidence of developmental delay. I do not have the gene for CCHS.
Acquired forms of Central Hypoventilation (ACHS) presents the same way as LO-CCHS and is only differentiated by the genetic test for CCHS being negative. Unlike the genetically inherited hypoventilation syndrome of CCHS, the acquired form of ACHS is usually the result of brain injury involving significant damage to the autonomic nervous system. In the absence of brain tumor or head injury, other causes include severe viral and bacterial infections which may have been particularly more possible in a context of primary immune deficiencies. However, the other cause of ACHS is asphyxiation - autonomic nervous system damage caused by oxygen deprivation. It is relatively imaginable given I was being drugged with gin and Valium at age 2-3 and had experienced several non fatal episodes of suffocation and choking at that same age that I may have sustained hypoxic damage to my autonomic nervous system from this. If so, this original damage could later have been pushed further following a long term respiratory infection, chemotherapy and surgeries to eventually leave me with depressed respiratory drive requiring ventilation to keep breathing during sleep.
Donna Williams [ Ссылка ]
