18 February 2010 – Wales, MA, USA “The mystery of Joshua,” written by Christopher Tanguay was published on the front page of the Sturbridge Villager. It is the story of Joshua Bishop and his family and their journey through diagnosis and life with MECP2 Duplication syndrome. The story is well told and weaves together useful facts and family perspectives. Here are 2 short excerpts:
The syndrome, which was onlyidentified in 2005, is caused by a duplication of DNA on a specific portion of the X chromosome. MECP2 Duplication Syndrome is the opposite of Rett Syndrome, which actually inhibits development of the same portion of DNA duplicated in MECP2, although their physical manifestations and symptoms are very similar.
And later quoting Joshua’s mom, Amy:
“When you have a special needs child, it forces you to live in the moment; enjoy the little things, important things, that sometimes we just take for granted.
“Having a child with special needs is hard at times, but they truly make you see what really mat ters. It is amazing what we, as parents have learned. He is amazing.”
To read the whole story, you can download the entire issue of the Sturbridge Villager and find it on page 1 and 11 (this is a 6.5 Mb download so you may want to be cautious if you don’t have a fairly high speed connection)