Saturday, October 30, 2010

Hand Covers Bruise

Friday morning we had a mandatory "genetics panel" meeting, which we knew nothing about other than we had to wear professional dress. When we arrived, we learned that 3 families were visiting to discuss their children, who were all affected by genetic disorders. It was a very intense and emotional presentation, as the first two families each had a child who died in their infancy due to metabolic disorders. The first presentation was from a husband and wife whose child died before a year of age (this was around 20 years ago, before genetic testing was a routine process), and have since adopted two children due to the high risk of their next child having the same disorder. The second presentation was given by a mother whose daughter died before she was 2 years old, and got a divorce shortly afterwards (as is the case for the majority of couples who lose a child). The final presentation was by a couple whose daughter suffers from osteogenesis imperfecta (brittle bone disease). The woman in question was present as well, and is now 28 years old. The disease stopped her growth at an early age and required many surgeries to fix disfigured limbs. She is confined to a wheelchair and is unable to walk. After the presentations we were able to talk to the families as well as view x-rays of all the surgeries and broken bones that the young woman with OI had suffered throughout her lifetime. It was a very impressive presentation and everyone got a lot out of it.

Aside from that, all my free time has been spent studying. The rest of the weekend is going to be intense, as there is still a large amount of material to catch up on.

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