Master CJ

Meet CJ and his Brother:
CJ was diagnosed with MecP2 Duplication in 2008.

He was born May 2007 and right from the start melted the hearts of everyone who looked his way; with his doll like face, gorgeous mop of hair and Angelic eyes!


CJ has severe developmental and growth delays, and multiple health complication. He has to attend regular physio, speech and occupational therapy sessions as well as other medical appointments.


CJ requires oxygen throughout the night to assist his breathing, so he has to wear tubing to his nose whilst asleep. He has become quite used to the tubes, and is a tough little man, who loves a good tickle and enjoys reading books with his Mum.

CJ happily welcomed his new little brother into the world recently and the two boys are like peas in a pod!


His Little brother does not have the MecP2 Duplication.

CJ and his little brother's parents adore their boys, and strive to give them both the best they can.

“Raising a child with disabilities has been challenging, but our lives and the lives of those around us have been enriched because of it.”

Market Stall Fundraiser

Because MecP2 Duplication is so unknown at this point research labs with Dr’s working on the Mecp2 gene research receive very little financial support we have been trying to find different ways to raise money to go towards current Australian research.

In November this year we will be holding a market stall at Chandler markets to sell craft items and other little bits and pieces. The Chandler markets organizers have offered us a market place at no charge as all money made will be going directly to the research.

Friends and family have been pitching in by creating homemade items to donate to the stall and also passing on our request for handmade craft items to businesses and individual artist in the local area.

We have had great response to our request and many are coming on board to donate what they can.

Our stall will also include information flyers about MecP2 duplication and a donation tin.


We will be applying for a Sanction for the fundraising, so everything will be done legally, we will be properly audited and have to provide proof of funds raised and show where the money is donated. This will help keep everyone assured that everything is legitimate, and that donations made are donated to where we say they are going to go.

(In the future we have plans to start up the first Australian MecP2 Duplication Organisation, we then be able to continue regular fundraising events through this organisation)

We have been in contact with Australian researches who are currently focusing on the MecP2 gene(including RETTS) and discussing what they are currently undertaking in regards to MecP2 Duplication, and how our money will help. We have received a lot of information from the researchers and they are very grateful and excited about our efforts to raise money to assist them.

I will endeavor to put this information together and post it on this blog.

I will also be posting regular updates on the progress of the fundraiser.

Thanks again for all your support.

About Mecp2 Duplication

Very little is known about the disorder at this point as the MeCP2 gene was only recently discovered and isolated in genetic testing in 2005. Currently there are only a few boys in Australia diagnosed with MecP2 Duplication and a random few throughout the world. It is likely though that there are many more boys with MecP2 Duplication who have not yet been tested who have the duplication.

Characteristics of MECP2 duplication in affected boys:

*Hypotonia

*As a result of hypotonia, motor development including sitting, crawling, and walking is severely delayed or impaired

*Mental retardation (in 100%)

*Recurrent respiratory infections (in 80%)

*Epilepsy (in 50%)

*Constipation and/or reflux

*Limited or absent speech

*Autistic behaviors

*Ataxia

*Progressive spasticity (usually noticed in the legs more than the arms)

*Stereotyped movements of hands

*Teeth grinding

*Developmental regression occurs in some boys

*Intestinal pseudo-obstruction

Ongoing research into the Mecp2 gene and its affects on those with the duplication is being conducted in Westmead Hospital Sydney and also in labs in Western Australia and overseas.

All of our Boys are the sunshines of our lives and although none of us would pass up an opportunity to make things easier for our Son's, our loving little boys are precious and special to us just the way they are!