When G was born, a mere 15 months ago, we were told there were only 26 kids with a similar deletion as him, and given a medical study describing those kids. We were told his deletion was the largest and we would never find anyone like him. Since then, thanks to the wonders of the internet, we know of 3 other children in the US, ranging from toddlers to teens, with almost the EXACT same deletion as G, give or take a gene. We are so very thankful to have these relationships and be able to learn from them.
In hopes to continue to share knowledge of what these kids experience, we participated in a study on 3q.13 which is a small portion of G’s deletion. It makes up .05 percent of the total DNA in each cell. This study focuses on a deletion of 3q.13.31, which is 5 genes (G is missing 126). The study focuses on 35 people in medical literature and 11 members of Unique, an organization out of the UK we are members of. Oh, and did I mention G is a cover model? Pretty cool!
If you are interested in learning more, you can read the report here:
Because I had to ask the question, I will answer it for you too: G is in group 4 – on the diagram on page 4, his deletion starts at the top of the blue group 4 line and continues on right to the bottom of the dotted line, and beyond.
Anyway, we love reading this stuff and learning more, and hopefully preparing ourselves a little more for what we can expect. Enjoy!