Rare Chromosome Disorder: David

Unique

After David being diagnosed with a rare chromosome "genetic" disorder I was referred to a web site called rarechromo.org and I found there facebook page for parents who have children with a rare chromosome disorder. There is approximately 3 families that are registered in the United States and most of the families are registered in the UK. My son was tested by his Metabolic and Genetic doctor for Fragile X Syndrome and even though he had the defect of the "X" chromosome he did not have Fragile X. It's not until 3 years later that he got tested for the deletion of his genetic chromosome and therefore diagnosing him properly. I recommend that ALL parents have their children tested by a genetic doctor, you just never know what you'll find out.

Wednesday, March 9, 2011

David

Today my son came home from school, mind you he is developmental delayed but the kid knows what he wants. As soon as I bring him inside, he heads to the kitchen looking for his juice cup, if its not there he grabs my hand and takes me to the fridge and navigates my hand towards the juice. My son who is 10 does not speak but his ability to communicate with hand gestures and sounds amazes me daily. He is so routine that if you alter his day drastically its chaos for him, and he will let you know exactly how he feels. Crying and whining till things go back to normal for him. Having a special needs child has been a challenge since day one, but I would not change it one bit, he keeps me going and I improve on my patience daily with him. If you have a child with fragile x or developmental delay and need some little advice, just keep it simple, routine and constant repeat of his goals and they will achieve what you expect them. PATIENCE is the key...don't forget.

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Technology

http://www.ablenetinc.com

One thing to consider is technology for your child, for instance my son has an I-Pad that he uses at school for learning his name recognition, tracing letters and numbers and also for communicating. He understands the concept of sliding and pushing buttons in order to make the use of the I-Pad, he does this at home with our phones as well. So, if your child is tech-savvy then why not consider technology as a learning technique. See the above website for more information on Assistive Technology Products.

IEP's

http://specialed.about.com/cs/iep/a/ieparticle.htm and

autismvancouver.blogspot.com/2012/04/ieps-and-autism-spectrum-disorder.html

As a parent with a child who has a disability, it can be overwhelming just to find him the proper placement for their education. An Individualized Education Plan (IEP) is important to have, but the parent needs to be realistic about what their child can and cannot do. Take into consideration the physical, mental and behavior issues and make a list of what is the most important concept for your child to succeed. For example, my child is non-verbal and not toilet trained; therefore, I chose for his IEP to establish goals for communication and toilet training. I know that my child is unable to comprehend Math, so he will benefit with more Daily Living Skills to make him more independent at home and in public. So, parents please re-evaluate your IEP and child every year, so that making the proper goals and placement will benefit everyone, especially your child. See the above website for more information.

Rare Chromosome Disorder