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Some friends were in town on vacation so they were able to stop by for dinner and a little playdate for the kids. I fell in love with Patrick within the first couple of minutes. I don’t even really no what it was about him (besides the fact that he is just too darn cute) maybe it’s because he truly is unique. Patrick was born with a rare chromosome disorder (so rare only he has been recorded as having it). I can’t imagine all that runs through a pregnant woman’s mind when you are hearing all the test results from the Dr’s, but I did get a glimpse of it from Patrick’s mom as she wrote about her pregnancy online and let me tell you, if anyone can handle it – she can!
Fast forward to today and how lucky is this family to have this charming, sweet, persuasive little man in their lives?! I am so glad I had the pleasure of meeting him.
I asked Patrick’s mom to tell us a quick story about him.
“To make a long (very long) story short, Patrick has an extra tiny piece of chromosome 15, and a missing tiny piece of chromosome 18. He’s the only one in the world who’s been found so far to have his particular chromosome arrangement, so it’s a very rare situation! A more common chromosome abnormality would be Trisomy 21 (Down syndrome): in comparison, Patrick has Partial Trisomy 15 and Partial Monosomy 18.
So far it’s manifested itself in developmental delays, mostly physical. He has a hearing loss and is far sighted, but we don’t consider those to be significant problems. His health has been excellent, and he’s cheerful, loving, and has a quick sense of humor!”
As I said above Patrick is unique, but chromosome disorders are not! There is an amazing group Chromosome Disorder Outreach that is founded, supported, AND run by the parents. These parents take it upon themselves to “provide a network of support and information through an extensive library of available up-to-date articles, detailed registry, newsletters, and a listserv that’s online 24 hours a day, everyday”.
If you have some time, visit the website to learn a little more, or make a donation if you can. Without further ado – here’s Patrick and his family. Of course Colton and Patrick’s sister were like two peas in a pod. Don’t you just love her sense of style?