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Intern Med J. 2012 Sep;42(9):1037-9. doi: 10.1111/j.1445-5994.2012.02878.x.

Dying at 23 with 1p36 deletion syndrome: Laura's family story.

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Emmanuel College, Melbourne, Victoria, Australia.


Laura was unusual. She had always been different and at times difficult. She was born with a genetic disorder, diagnosed as 1p36 deletion syndrome when she was 21 years old. At 23 she suffered her first cardiac arrest at home and entered the hospital system for the first time apart from infancy. After initially appearing to do well, she suffered a second cardiac arrest 10 weeks after admission. This was followed by an irreversible deterioration and she died 14 weeks after admission. We her family had been with her throughout her traumatic experience. This is our story.


1p36 deletion syndrome; ICU; family care

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