Chromosomal Connections
Noa Ospenson’s parents flew from Boston to South Carolina for a meeting of 100 families with children who, like Noa, are also “22q13.” Hoping for more information about their daughter’s diagnosis, they emerged as lifetime members of what they call “Noa’s tribe.” For each of them, a genetic mutation became the foundation for a new form of kinship.
With technology that can now scan each of an individual’s 46 chromosomes for minute aberrations, doctors are providing thousands of children lumped together as “autistic” or “developmentally delayed” with distinct genetic diagnoses. The symptoms, they are finding, can be traced to one of dozens of deletions or duplications of DNA that were previously hard or impossible to detect….. Some mutations are so rare that they are known only by their chromosomal address.
Full article on the rare genetic mutation here.
Interesting. These groups will probably learn more from each other than doctors will learn treating them individually.
Maybe the internet will be the savior for many a patient who otherwise would suffer alone.
Knowing other (older) kids with the same disorder may allow parents to better-prepare. Amniocentesis can detect some genetic abnormalities prior to birth. I wonder if there is an effort to widen the number and types of genetic abnormalities that can be detected through amniocentesis. Considering how rare these disorders are it would probably not be worth the cost of screening for them.
All the vacciners are going to be upset that their theories are wrong. They might actually have to vaccinate their children.