What a coincidence!

What a Coincidence!

15-11-13

Everyone in the PWS world knows by now that the syndrome is caused by an alteration that occurs on the chromosome 15 .  Many will know that the location of this alteration is in the region labelled by the genetic location described by geneticists as 15q11-q13, And guess what!  15-11-13 is also the designation for the 15^th of November 2013 in most parts of the word!  A great coincidence that only occurs every 100 years, and one that can be used to promote further awareness of PWS.

Many of you will also know that another disorder, Angelman syndrome, has the same genetic alteration (but on the chromosome contributed by the mother) and for them this is also known as 15-11-13. Its symptoms are different from PWS. 

And to stretch the coincidence even further, there is yet another genetic syndrome called Duplication 15q11-q13 which is due to a duplication of the same genetic region that is deleted or supressed in PWS and Angelman syndrome.

IPWSO and the U.S. Associations for these two other syndromes related to 15q11-q13 have gotten together and sent a request to Google to see whether their Doodler team (the people who design Google’s homepage) would come up with a doodle just for us to share with the rest of the world.  (You can see our submission on our website, here.)

This is a unique opportunity to introduce the rest of the world to this special date with the same designation as three rare genetic disorders, and for this reason we want to celebrate! 

We want you to join us and send in photos of your loved ones so that we can put them on our website promotion page

• We want to hear your success stories – just a short paragraph will do!
•  We would like to suggest that you notify your members about this special date and promote it on your website or newsletter, if you have them
• Get creative! For example, a support organization in Spain, FSPW, has made some T-shirts to wear when they celebrate on that special date, which you can see on their website.

What do you say?  Will you join us?  Watch Facebook for new developments; send in your stories and photos directly to me, IPWSO Communications Coordinator, so we can share this amazing day!

Genetic Subtypes in PWS

When I first knew anything at all about PWS, there was nothing mentioned about genetic subtypes.  Either you had PW, or you didn't.  The thing was, in those days (some 30 years ago now) PWS was diagnosed clinically by the characteristics that presented themselves.  And, of course, often these characteristics were not very apparent in the small baby or growing child.  Often diagnosis was made in hindsight once the person had reached his or her teenage years and was presenting with obesity, non-stop eating habits, and challenging behaviours.

Making a genetic diagnosis was difficult and blood samples had to be sent away so that results were often weeks and months later.  Even then, the diagnosis would come back as a "yes" because a deletion on the 15th chromosome had been found, or "no", because the deletion had not been found.  And, as we know today, just because there is no obvious deletion it doesn't mean the diagnosis of PWS is incorrect.  A maternal disomy diagnosis (where the developing embryo has picked up two pieces of its mother's chromosome, instead of a bit from its father's) won't show up as a deletion.  And certainly the third diagnosis of imprinting, won't show up as a deletion either.

Scientists began to realise there was something more to diagnosis than just looking for a deletion and the breakthrough of different subtypes was made some 15 or more years ago.  What does this mean?  To the scientists and researchers, it is quite a significant breakthrough genetically.  To behavioural specialists, psychiatrists, psychologists and those who manage the behaviours, it is also a significant breakthrough and much work has been done on looking at the three types as individual groups, ie, those with the Deletion (also known as the Type I deletion), those with Maternal Disomy (also known as Type II), and those with the Imprinting.  To understand the theory behind all this, have a look at the article by Merlin Butler and Susie Cassidy.

Studies around the world have been done to try to identify different types of behaviour, and characteristics -  such as a pretty unique ability to complete jigsaw puzzles  (for those with the Deletion), a lighter skin pigmentation (for those with Maternal disomy), similarities with autistic-like behaviours (for the Imprinting),  a higher IQ for the Maternal Disomy group (often leading to more challenging behaviours) and many others.  But the main thing to realise about all of this is that your child is unique.  He, or she, will have many attributes gained from his or her upbringing, siblings, family environment that will make him/her quite different from any other child with, or without PWS.

We know that if it weren't for the scientists, researchers, and medical teams around the world, there would be no gains made in the strides taken to understand the syndrome, but we must also never forget that if it weren't for the parents' concern and love for their child, we would never understand the person behind the label of PWS.