I was diagnosed with Mixed (mostly central) apnea in March 2012. I had complained about waking and finding I was not breathing in 2009. I explained that I wasn’t gasping for air (as happens in Obstructive Apnea), had merely woken to find I was laying there like a dead person, not breathing (usual in Central Apnea), commonly with my hands and feet numb or tingling (usual in sensory neuropathy). But because I was thin, young and didn’t snore, it was presumed I couldn’t have (obstructive) ‘apnea’ so therefore couldn’t have apnea at all. During chemo for breast cancer in 2011, the apnea became serious and severe. We presumed it was ‘just chemo’ and it would right itself later. But after chemo it was nightly, and commonly now also in the day time.

The GP couldn’t understand how I could have apneas sitting up in the passenger seat of the car, even whilst standing at the computer. After all, all apneas are obstructive aren’t they? And therefore one would have to lay down to have the airway obstruct. But these daytime apneas were not new, I’d had this since early childhood, first asked about it once I gained functional speech in late childhood, but nobody knew what I was talking about. What did I mean ‘why do some people’s brains forget to keep them breathing?’

I was diagnosed with Ehlers Danlos Syndrome (EDS) in 2013, a genetic connective tissue (collagen) disorder which is presently thought to effect around 1 in 5000 people. I have four relatives who have ruptured, so I’m thought to have the rarer form – Vascular EDS (VEDS/EDSIV) – which is presently thought to effect around 1 in 25,000 people.

Collagen protects the peripheral nerves throughout the body – autonomic, sensory, motor nerves. Estrogen replenishes collagen, keeps it functional. I was on estrogen blockers for breast cancer. I developed autonomic, then sensory, then the start of motor neuropathies… combined refered to as Peripheral Polyneuropathy.

All of this was rather scary until I understood it was probably not going to kill me. I’m used to my breathing machine now, a Resmed VPAP Adapt S9 (ASV machine) and during the day I found a mixture of sodium and citrulline could increase my respiration and keep my breathing regulated. But still there are daytime apnea episodes and they are not easy to live with. Sometimes only 15 minutes long, sometimes up to 90 minutes. Sometimes several times a day, sometimes once, sometimes a few days or even a whole week without any daytime apneas. Of course each night the central apneas and hypopneas keep my machine busy with EPAP at 5 and IPAP around 11, but daytime apneas there’s no machine to take over… and if I don’t consciously apply myself to breathe my breathing just gets slowed, the respiratory muscles are hard to work and the impulse to inhale becomes so weak. If I don’t stay on the case I feel ill and dizzy.

I asked about it, where is this going? Would I have days I have to go lay down with the machine because of such episodes. I was told, perhaps. I searched for others who are living with central apnea, most are seriously ill people… people with ALS, Parkinsons, MS, COPD, heart failure, brain injury, cervical spinal damage or brain tumors. I’m just a person with autism who is immune deficient, in remission from breast cancer and has dodgy connective tissue throughout my body.

Whilst 40-70% of people with EDS may have autonomic neuropathy and around 10-15% may develop sensory neuropathy, most will never develop central apnea, nor motor neuropathies… I’m in a minority within a minority. Perhaps there are other albatrosses out there… I don’t know. Thing is, for me, I feel like a ‘normal’ person… this is my ‘normal’… and I refuse to see this as ‘being sick’… if I was made this way and eventually all things wear out… immune systems, connective tissue, the function of peripheral nerves… then this is not me ‘getting sick’ it is my version of ageing normally, normally for what I am. Sure, I just turned 50 but people with immune deficiencies didn’t even make it to age 5 or age 10 before antibiotics in the 1950s… so I’m not young in those terms, not too young for all this stuff. And if 90% of people presently diagnosed with Vascular EDS are dead by age 48 from ruptures, then here I am at age 50 and I’m not young in those terms, I have lived to a great age in those terms. And nor is my life nearing its end. Who says I won’t be around another 10 years. I might. I very well might. And if I don’t, then I did not lose, it would simply be my own natural course of things. An apple is not a broken orange.

Donna Williams, BA Hons, Dip Ed.
Author, artist, singer-songwriter, screenwriter.
Autism consultant and public speaker.
http://www.donnawilliams.net

I acknowledge Aboriginal and Torres Strait Islander people as the Traditional Owners of this country throughout Australia, and their connection to land and community.