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Genetically programmed to self-destruct   Leave a comment

Volume 358, Special Issue, S20, December 2001

The Lancet


Samantha Hillyard was diagnosed with cystic fibrosis on the day of her birth (11/08/73). She is on the executive committee for the International Association of Cystic Fibrosis Adults, and has been European editor of their newsletter for 6 years. She is also a founder member of Friends for Life. Sam lives in the countryside with her partner, Phil, where she breeds chickens and is writing a novel.

While I was growing up with cystic fibrosis I thought of the disease as something that gave me a unique identity different from my peers. I was blissfully ignorant of the pending realities ahead. Up to adolescence I had many operations to remove nasal polyps. My thoracic symptoms were few, thanks to early diagnosis, but I regularly suffered with blockages of the bowel and severe abdominal discomfort. However, I classed these symptoms as normal and as something that I had partial control over, if I ate the right things.

By my teenage years my lungs had become colonised by Pseudomonas aeruginosa, and as a result I coughed aggressively from my teens into my mid-twenties. Even in the days when I didn’t see any immediate effect—ie, sputum—I always did my chest physiotherapy. I believe that my compliance was purely down to an obsessive need for routine.

By the age of 17, I was living on my own, and had a full-time job and an active social life. I was still having daily physiotherapy and taking medication religiously, but now alongside the new, and sometimes excessive, lifestyle I was enjoying (including smoking for a year).

Over the next 5 years the pace of my life gradually slowed down. Although my lung function was still reasonable, I began coughing up blood more and more often. My concern about the frequency of these bleeds grew. Feelings of self-consciousness intensified, since I was now unable to conceal my condition from the outside world, especially at work. As a result, I became stressed, tired, and run-down.

I decided to give up work and live on disability benefits. I did, however, continue to work from home on a voluntary basis, writing articles and eventually editing magazines for people with cystic fibrosis. In the meantime, my bleeding had reached the stage where just bending over could spark off an episode. I was also experiencing strange losses of sensation to parts of my body, accompanied by confusion, visual impairment, and paralysis. Furthermore, my clinic was over an hour away and I never felt I was taken seriously when I reported my problems. Besides, none of the drugs suggested made any difference.

In the summer of 1996, I became depressed. For the first time I was not in control of my body. That autumn I had a huge bleed and, as I fell unconscious (now paralysed and unable to see), I didn’t want to be revived. That was the most frightening experience of my life, and it was also the day that I was crudely stripped of my confidence. After I awoke, I was eventually able to call for help, and was taken to hospital for an emergency blood transfusion. The next day I had a bronchoscopy, then embolisation was done (figure). After this procedure my bleeding fluctuated. I had several large bleeds, but none, thankfully, as big as the previous haemorrhage. Even now, I have traces of blood in my sputum every day.

At about this time seizure-type symptoms started to become more regular, and I had to surrender my driving licence. Eventually, I was referred to a neurologist, who diagnosed herniation of the hind-brain. My seizures were caused by this weakness, brought about by regular coughing throughout my life. Although relieved to have a diagnosis, I felt cheated; the physiotherapy I had been diligently doing to maintain my health had backfired. Yes, as a result of it my life had been extended, but its quality had been greatly reduced.

Since the bleeding that I experience often accompanies seizures, or is positional (ie, when lying down), I now need company 24 hours a day in case of a seizure. Emotionally, I have found this necessity very hard to deal with, and eventually I developed an eating disorder to regain some control over my own body.

I feel that I am learning to cope with my circumstances, with help from my partner, family, and friends. I now attend a different clinic, which is understanding of my needs, and where the staff are helping me to adjust my treatment to suit me. For instance, they are exploring different forms of physiotherapy to minimise the pressure on my herniated brain, and as a result my seizures are becoming less frequent. Being a partner in my own care has helped me to rebuild a little of the confidence I have lost.

I am thankful for medical research, because I am sure that without it I wouldn’t be here. However, as we get older, people with cystic fibrosis are encountering so many more problems, often due to ongoing medical intervention. Just a few examples of these additional difficulties include osteoporosis, diabetes, eczema, stress incontinence, vaginal and oral thrush, loss of bowel reflex, infertility, and severe pain in the lungs, abdomen, and joints.

I am genetically programmed to self-destruct, yet I must try to beat my personal genotype (Delta F508/Delta F508) with the same rebellious determination that I displayed to my parents as a teenager.


Posted Μαρτίου 20, 2016 by msofcrete in Medicine

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