Rare Chromosome Disorder: His smile

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.

Tuesday, May 31, 2011

His smile

When my son was born he did not cry right away, he did not roll over and sat up like a regular child would. He did not want to be held at 6 months and he did not want to go outside at 1 year old, he hated the bright sun and the loud noises, he hated the cry of children and the laughter of others. When my son was born he had unique and unusual features, his toes on both his feet were fused together and his pinkies are curved, he has a cleft jaw and a small head. He could not walk until age 5 and he has not spoken his first word yet, but his smile tells it all. He looks at you with his big green eyes and just smiles and nothing matters in this world, his smile makes me laugh and love him even more for what he is and not what he hasn't accomplished. Fragile X is a genetic disorder that affects everyone in the family, it is passed on to the born sons of the mother carrier, so please get a genetic test and help others Get To Know...Fragile X.

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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