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, November 11, 2011

A Drug Shows Promise in Autism  - Technology Review

A Drug Shows Promise in Autism - Technology Review

Thursday, November 10, 2011

Clinical Trials

Last week I read an article on Neurology Now about a family who has a son and daughter with Fragile X, their son Parker toke a clinical trial for a medication called Minocycline which helped her son with speech. So I looked into it more online and found Dr. Randi Hagerman at UC Davis was in the process of doing another clinical trial for this medication. I emailed him and within two hours he responded, he suggested another kind of medication that might be more suitable for David. He asked me to have his doctor refer David to him, so I emailed my son's pediatrician and metabolic doctors and hope I can get a referral to see Dr. Hagerman. I know that clinical trials are just that, trials, and not a miracle worker, but just for David to have a chance to improve his life regarding this disorder can benefit him more if I just try instead of saying maybe. So I cross my fingers and see what happens next.

Saturday, November 5, 2011

Halloween

This year was tough, the recession did not get me in the mood to decorate for Halloween and to top it off I had no money to buy David a costume, luckily last year I bought a skeleton costume on clearance for 3 bucks and put that on him. It did fit a little snug and I knew that he would not be wearing this costume next year. I toke him to a Church festival near my house that they have every year, he got to play games and get candy. After just being there for one hour he began to get irritable and just wanted to leave, he was tired and I decided to take him home. This year was a little sad for me, I only had two of my kids with me this Halloween, my other two girls are all grown up and on their own. It's funny how you see the changes of the "torch" when one by one leaves the house. My youngest daughter Sinclaire is taking charge of her little brother now that her older sister Elise is no longer living with us, she is at college and living with her biological dad. I am grateful for my kids and how they live up to the responsibility and care for their little brother.