Monthly Archives: June 2015

With Gratitude

thanksSpecial thanks on behalf of  families of individuals with MECP2 Duplication Syndrome to my colleagues Fred Orelove and Donna Gilles who have decided to assign 100% of the royalties of our forthcoming book, Educating Children with Severe and Multiple Disabilities  to support research efforts to find new and better treatments. Royalties will be paid to the MECP2 Duplication Syndrome Fund at the Rett Syndrome Research Trust.

Fred and Donna have been leaders in the field of developmental disabilities for decades. Continue reading

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Ananta and the 401 Project: A Personal Perspective

sc001e2b7aThis is an old picture of my daughter Ananta from December 1972. June 30th this year marks her 45th birthday. When I took this picture, I didn’t know she only had 10 days left in her short life.

Ananta was diagnosed with Type 1A Glycogen Storage Disease, not MECP2 Duplication Syndrome like her brother Dave, but I think part of her story belongs here. Continue reading

Syndromes, Clinical Syndromes, Genetic Syndromes, and Associations

CAUTION2The term syndrome gets used a lot by healthcare professionals and by the public in general. Most people have a fairly good idea of what it means, but it may be helpful to look a little closer. Syndrome comes from a Greek word meaning concurrence, things that are commonly found together. So, syndrome is generally used to refer to a group or pattern of symptoms that typically go together.  That much is pretty straight forward. Sometimes, however, syndrome has a narrower, more specific meaning. Continue reading

Chromosome Disorder Awareness Week ( 7 – 13 th June 2015 )

Unique

As strange as it may seem rare chromosomal disorders are quite common.

Sunday, June 7th, starts Chromosome Disorder Awareness Week. Unique is an international organization that raises awareness of chromosome disorders  and their Awareness week kicks off 7 June 2015. For more information, check out their press release.