Darryl Collins
Darryl.Collins at coles.com.au
Thu Mar 19 17:58:09 CDT 2009
Even though this is wildly OT (but it is Friday in Oz), I really like to read these sort of emails when they occasionally pop-up - not only did I learn something new, but it also gives John a new depth of character for me. This sort of chatter makes all of you people 3D and in colour, with families, hopes, dreams and problems outside of our usual dry MS Access issues and that really means something to me. Maybe it is because I see most of you as some sort of extended family. dunno... Anyway - I am starting to sound mushy. (note to self: must cut back on medication this week) - If I keep this up I may need to start watching day time TV and getting weepy at Oprah ;) All the best with your Daughter John, she is lucky to have a strong and supportive family. cheers Darryl. -----Original Message----- From: accessd-bounces at databaseadvisors.com [mailto:accessd-bounces at databaseadvisors.com]On Behalf Of John W Colby Sent: Friday, 20 March 2009 12:22 AM To: Access Developers discussion and problem solving Subject: [AccessD] William region DUPLICATION: was Re: My daughter Allie in the news Mike, In fact there are two different genetic disorders. In one a section of genetic material is deleted, i.e. they only have a single copy of that set of genes. The other is where a section of genetic material is duplicated, i.e. they have THREE copies of that set of genes. Williams Region Syndrome is the deletion disorder, where they only have a single copy. Allie has the DUPLICATION disorder called Williams Region Duplication Syndrome. http://louisville.edu/psychology/mervis/research/dup.html The Williams region (named for a doctor that studied the syndrome in the 60s) is a set of about 25 genes on one of the chromosomes. Allie has a duplication of that entire set of 25 genes. Williams Region Syndrome (deletion) was diagnosed in the early 60s, although I am not sure when genetic testing became available to discover the cause. Williams Region Duplication has only been discovered in the last three years which is why it is so "rare". There is a new testing tool that became available three years ago that can now find duplications in general, and so duplications of many different regions are beginning to be discovered. Doctors have theorized "from the beginning" that wherever there is a region that is being deleted, there will be people with that same region duplicated, but they have never had the tools to be able to detect the duplications. Now they do. Williams Deletion syndrome occurs in 1 per 20,000 births, so it is in fact rare. However Williams Region Duplication is not necessarily more rare (they don't really know yet), it is just undiagnosed so far for most people who have it. It turns out that at least in the Williams Region, a duplication has milder symptoms than a deletion. In fact, Williams Region Duplication adults are being discovered because through genetic testing their children are being discovered to have the syndrome, and when it is discovered that their children have this syndrome, the adults are then tested. Some adults have virtually no symptoms, never even realized that they had any problems. Williams Region Deletion syndrome has pretty severe symptoms including low intellectual functioning, heart problems and other medical issues. The biggest study of Williams Region Duplication Syndrome is being done by a group of doctors at the University of Louisville Ky. These doctors have been studying the Williams Region Deletion syndrome for many years and have about 500 people enrolled in the study. Because of the numbers they have been able to discover patterns of symptoms including severe heart problems. Because there are so few people diagnosed so far with the DUPLICATION syndrome, they don't really know what the symptoms are. The same doctors at Louisville have started a study of people with the Duplication syndrome, and until this weekend had about 25 people in the study. We took Allie to Louisville this past weekend to be enrolled in the study, and met 3 other families of duplication syndrome children (one of which was already enrolled). The study gained 3 new children (including Allie) this weekend so they are up to 28. In the end it will be years before they really get enough Duplication people in the study, and of course enough time tracking the people, to discover patterns of symptoms. Basically at this time they don't know much, but they do know that the symptoms do not appear as severe as for the Deletion syndrome. So Allie is lucky to have the duplication rather than the deletion. She is in for a rough ride but she is a very happy child with a personality that draws people to her. Everyone in her whole school knows and loves Allie. John W. Colby www.ColbyConsulting.com Mike Mattys wrote: > I watched it again and looked up Williams > http://www.geneclinics.org/profiles/williams/details.html > > I think she found the right Dad. > > - > Michael R Mattys > MapPoint and Database Dev > www.mattysconsulting.com > - > > ----- Original Message ----- > From: "Mike Mattys" <mmattys at rochester.rr.com> > To: "Access Developers discussion and problem solving" > <accessd at databaseadvisors.com> > Sent: Wednesday, March 18, 2009 11:55 PM > Subject: Re: [AccessD] My daughter Allie in the news > > > >> Cute she is. >> >> What does this mean for her? >> >> - >> Michael R Mattys >> MapPoint and Database Dev >> www.mattysconsulting.com >> - >> ----- Original Message ----- >> From: "John W Colby" <jwcolby at gmail.com> >> To: "Access Developers discussion and problem solving" >> <accessd at databaseadvisors.com> >> Sent: Wednesday, March 18, 2009 11:34 PM >> Subject: [AccessD] My daughter Allie in the news >> >> >> >>> My daughter Allie has a genetic duplication disorder, which was just >>> recently diagnosed. We were asked by a TV station in Asheville, NC to >>> do an interview. An interview is a strange beast, 5 minutes of >>> conversation for a single sound bite. But Allie is cute. Check it out. >>> >>> http://www.wlos.com/newsroom/health_alert/vid_210.shtml >>> >>> -- >>> John W. Colby >>> www.ColbyConsulting.com >>> >>> -- >>> AccessD mailing list >>> AccessD at databaseadvisors.com >>> http://databaseadvisors.com/mailman/listinfo/accessd >>> Website: http://www.databaseadvisors.com >>> >>> >> -- >> AccessD mailing list >> AccessD at databaseadvisors.com >> http://databaseadvisors.com/mailman/listinfo/accessd >> Website: http://www.databaseadvisors.com >> >> > > -- AccessD mailing list AccessD at databaseadvisors.com http://databaseadvisors.com/mailman/listinfo/accessd Website: http://www.databaseadvisors.com This email and any attachments may contain privileged and confidential information and are intended for the named addressee only. 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