Rare Chromosome Disorder

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.

Friday, June 28, 2013

To my surprise

So, we get up earlier than usual and David is in a good mood ( he must of gotten enough sleep ). He looks over to my night stand looking for his toy, he stretches his neck forward and looks down to the floor where he notices his toy, he jumps out of bed and picks it up and begins to play with it. I then get him ready for school, put on his AFO's and make him oatmeal...that kid loves his oatmeal. We wait outside for the bus and its taking long for the bus to show up. So, we wait and wait and I realize its not coming, I called transportation and no answer; I put David in the car and I drive to the school complaining to the Gods as to why the bus didn't show up, I drive up to the school to drop him off, but to my surprise there is no school today...whaaaa??? Gee, thanks for the "heads-up"....I drive up to just see an empty parking lot and the school locked up.

Friday, June 14, 2013

AFO's

David got back into his AFO's (ankle-foot orthoses) in July of last year and it toke him about 2 weeks to get adjusted to them. As always I followed the procedure of 30 min. on 30 min. off and observe for redness and bruising, since wearing his AFO's David has gotten used to them and is up and around. When David was seven years old he had gotton his first AFO's and he had just started walking at the age of 5, so I had no idea how important these AFO's were to David's needs, keep in mind....lack of education and research.
Since David has hypotonia (muscle weakness of the legs) it was crucial for him to wear them daily, now I am not a perfect parent, so I did forget at times to put them on and having three other children to look after was not an easy task for me to remember. I regret not following the instructions back then, but live and learn and I revamped myself.
David well always have to wear his AFO's in order for his feet to adjust properly so he can walk with no pain, his feet tend to move inwards which caused his knee bones to curve out, not giving him a straight-leg standing. For those parents who know how uncomfortable AFO's can be on a child, you understand my hardship but also let us not forget to give information to our "new" parents who are dealing with their kids in regards to AFO's.
As for David, he has adapted well and will continue to wear them until his Orthopedic doctor considers them no longer needed, but what I am hearing from the doctor at this moment is that David will have to use them for the rest of his life. So parents if you are considering or required for your child to have AFO's, ask questions and do research, as for me I had to get a referral from his Orthopedic doctor to the AFO Specialist who makes them (Johnson's Orthopedic) and then have him fitted. David's Medi-Cal insurance paid for them so you will have to contact your primary doctor or insurance before you start the process. I hope this information was helpful.

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.