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.

Thursday, December 6, 2012

New blog name for new info

I changed my blog name to "Rare Chromosome Disorder" because after speaking with David's Metabolic doctor on his genetic testing of 2009 it was confirmed that David does not have Fragile X Syndrome; even though he carries a premutation of chromosome x, he also has what they call "deletion of chromosome 2".  David was tested on Oct. 13, 2009 for Microcephaly (small head), Clinodactyly (bend or curvature of the 5th fingers), syndactyly (web toes), and cleft palate. His genetic test called High-resolution oilgonucleotide array CGH came out positive for Abnormal. The results were that he carries a de novo (a new; from the beginning) interstitial deletion of 10 Mb extending from cytogenetic (The study of inheritance in relation to the structure and function of chromosomes.) band 2q21.1 to 2q32.1.
We had this test done also and our results were yield normal, even though I have the premutation of chromosome x I still passed this gene to my son.
After speaking with his genetic doctor she was baffled of the fact that David had the premutation of chromosome x and the deletion of chromosome 2. According to the website "Unique" in their information leaflets under chromosome 2 section, you can read and inform yourself about this rare disorder.
There is no specific diagnosis name yet just that it is considered a chromosome disorder and about 45 people in the world have this deletion, that is what makes it so rare. This new information opens up a whole new world for my son and us, we need to re-evaluate his needs according to this new information. More research will be done on my part and I hope that if you know anyone with a rare disorder you can guide them to my blog. I hope this new information was valuable and re-assuring.