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  • Learning Something Unexpected: 1p36 Deletion Syndrome

    When I went to Snowbird I expected to learn about the wildflowers and animals in that area. Indeed I did. The pot gut squirrel (Uinta ground squrirel) and moose are two of the furry species there. The wildflowers were amazing. I hiked through fields and fields of color—Indian paintbrush, lupines,primrose, moutain bluebells, gentian, and many, many more whose names I don’t know. What I didn’t expect was to learn about a rare disease—one that was identified in 1981—1p36 deletion syndrome. 

    Ski Resorts like Snowbird keep themselves busy in the summer by hosting conferences. It’s easy to spot attendees associated with each sort of conference, as attendees have their own “look.”  The Ichtyologist and Herpetologist  Conference had an almost equal mix of male and female attendees. They travelled in groups of 3 to 5, had animated conversations, and could be heard talking about fish and snakes. They sat on the comfy couches in the lounge and ate together in the restaurant. The attendess for another conference, whose name I didn’t catch, had primarily male attendess, dressed in collared shirts, and hung out lined up at the bar as they waited for a conference-related party to begin. I heard one of them complaining that the party was starting at 6:00 PM, far too early for a party in his opinion.

    One day I saw a lot of women with kids, and at least one of the kids in each group “looked different” and behaved a bit differently from what you’d expect. How different? Just enough to conclude that these women and their children must be here for a purpose. While in the lounge one night, one of the women struck up a converstaion and said she was there for a conference on 1p36 deletion syndrome.  She said that although there were technical presentations that most families were there to network with other families and provide each other with moral support.  There were some Dad’s there too, but one night all the women went out together and ended up in the lounge with a drink. They looked happy, the conversation was animated, and I got the sense that they were getting a well deserved night out without their children.  

    So what is it?  Deletion syndrome happens with a bit of DNA is missing from from chromosome 1, location p36. First noticed in 1981, it wasn’t until 1997 that the symptoms were established. Scientists haven’t gathered enough data to predict life expectancy, but it is clear that every individual is individual in the symptoms they get and in the severity of those symptoms. It depends on how much DNA material is missing. There is no cure, just strategies for managing symptoms. 

    The symptoms can be changes in facial structure, learning disabilities, problems communicating, heart, eye, muscle, and breathing issues. For more specifics see the http://www.1p36dsa.org/what-is-1p36-deletion-syndrome/

    On another night, we ran into the woman who spoke to us earlier. She was impressed that we took the time to find out (on the web) more about 1p36 deletion syndrome. She was so delighted that she brought over another Mom to meet us. She said,  “These people actually found out what deletion syndrome is.” It lifted their spirits to see that others cared.