Saturday, 19 September 2015

Damned genes

I never used to think about the genes I had inherited until recently. I don't mean my looks, I mean my health. When we are young we feel and act like we are invincible. We can't imagine how it really feels to be old, to be in pain never-ending. If we have an accident we're as right as rain, usually, a few days later. We spend our time occupied with work, kids, our partner and sometimes our hobbies. Maybe throw in a holiday or two to think about.

It's very different now and the more I learn the less I like it. How well do you know yourself? Deep inside... hard to see I know but in your 50s and 60s the insides make their presence felt in many ways.

For years I've had problems with significant constipation. My record was 18 days without movements in France, 17 days in New Zealand and that is more than painful, it's scary. I got sick of being told to eat more vegetables and drink more water and get exercise because none of that helped. Well, now I know why. My last colonoscopy has revealed that my bowel is much longer than it should be. "You could say it's like a winding trail up and over mountains", said my specialist. Too long means the transit time is abnormal. The longer it takes, the less hydrated things become and the more prone to worse things happening inside like diverticula and polyps. I'd had no idea my bowel is too long but did recall that ever since I could remember as a kid, my parents had made disparaging remarks to me because I didn't 'go' every day like they thought I should. I went two or three times a week. Now it all makes sense. I now drink nasty 'moving' mixtures and take anti-spasm pills. That helps a lot.

I started going deaf when I was 36; well that's when I became aware of it. It was after the birth of my second daughter and I could no longer hear conversations at parties. Darn, and I hadn't listened to much loud music in my youth either, we didn't back then. I just accepted the deafness as part of aging, had a test in NZ back in 1996 which said I was at the bottom of the normal range and put up with it. Hearing aids are prohibitive in price though I knew they might help. My hearing continues to deteriorate and there are many sounds now I simply cannot hear, though JC hears them and he's 10 years older. What could be going on?

I recently found out from an ear specialist who tested me that I have a hereditary hearing problem and it would have been better if I'd known about it earlier but now I'm too old for surgery to be an option. Have you heard of otosclerosis? It's more common in women.

People who have otosclerosis have an abnormal sponge-like bone growing in the middle ear (the stirrup) also known as the staples, becomes attached with this abnormal bone-growth. This growth prevents the ear bones from vibrating in response to sound waves. These vibrations are needed in order for us to hear.

Otosclerosis is the most common cause of middle ear hearing loss in young adults. It typically begins in early to mid-adulthood. The condition may affect one or both ears. Risks for this condition include pregnancy and a family history of hearing loss. Caucasians are more likely to develop this condition than people of other races. It tends to be hereditary.

I don't know enough about my family history in terms of hearing loss but I have had three pregnancies and each pregnancy makes it worse. The hallmark symptom of otosclerosis, slowly progressing hearing loss, can begin anytime between the ages of 15 and 45, but it usually starts in the early 20’s and is unstoppable. It is often accompanied (as in my case) by significant tinnitus (various annoying noises in the ears) and occasional vertigo. The latter would explain my balance difficulties with pirouettes as I got older.

White, middle-aged women are most prone to presenting with this type of loss. Hearing aids can help but won't replace the hearing already lost. Some surgery might be performed if the stirrup isn't already too stiff but this is often not successful. One day I imagine they'll be able to give implants but I'm not sure I'll live to see that. I wish gene therapy was more advanced as there is a lot of death by stroke and heart attacks in my family. My varicose veins are likely to be hereditary the vein specialist told me. " You need to have those out", he said.

While our genes don't necessarily mean a death sentence, since our choices in lifestyle can influence outcomes, I'm not thrilled about the little time-bombs going off inside me now that my body can no longer repair itself properly, especially the arthritis. As a baby boomer I'm 'encouraged' to keep youthful, supremely active and live a long and healthy life. Bollocks! Seems it's all in the genes.


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