#22q11.2

英5歲女童生怪病　罕見到沒病名全球僅3例　

Medical shows are not the main place that anyone should get their medical information. Regardless, we generally expect them to be fairly accurate. Recently, Grey's Anatomy said a small piece on a condition called 22q11.2 deletion syndrome, naming it a death sentence. This is completely wrong and absolutely infuriating.

22q11.2 is a syndrome caused by a missing part of a chromosome. (Its other aliases include DiGeorge syndrome, VCFS, Opitz G/BBB syndrome, and a few others). A lot of different things can happen with 22q, but some of the most common characteristics include heart defects, gastrointestinal problems, developmental or developmental delay, Kidney problems, calcium deficiency, emotional/behavioral differences. These all vary in degrees depending on the child. 

Calling 22q a death sentence is absurd. Of course complications could happen because of some of these signs/symptoms, but SO MANY people with the syndrome live perfectly happy lives. A lot of people live without even knowing they have it (the USA's lack of real recognition of 22q11.2 contributes to that. It affects 1 in 68 children with a congenital heart defect, yet testing for 22q among children with these defects only happens if a parent asks about 22q specifically.).

So little is known in the general public about this condition and talking about it in a widely watched television show as something deadly is harmful on so many levels. It misleads people who have children that will be/have been diagnosed. It could lead someone to abort a potentially healthy fetus because they think it will come out horribly deformed. It gives a bad name for the people who do have it. Assuming that no one has it because they are all dead, that people who have it are on the brink of death, or thinking that it's some debilitating disease is putting similar stigma on it that has been put on Down's and autism for years. Over-hyping the severity of these conditions and erasing the people that have them as just their condition alienates and dehumanizes them and it is unacceptable.

Was I asleep when the transition started taking place from my mostly contented childhood years to what parents and children are facing now?

Who set the wheels in motion?

You, you there. The entity that set the contemporary parenting experience on edge. What was it about your childhoodthat brought you to a point, where we have now reached the year 2014 energized by snapping photos of errant…

Scenes From An Italian Restaurant

By the time this past Friday night rolled around, everyone in Casa de la Madre Roadie was spent and Dave and I took the twins to a mom and pop place for pizza where we have never, ever had a bad meal, and never seem to get out to often enough.

The evening rolled out much as one would expect. It took 1/10th of a second for DS11 to home in on the wall-mounted TV, and he wasted no time after taking…

Not Wanted In The Village

After Fordnado the Younger, alias Rob, disappeared into Muskoka lake country with his Algonquin chair, a BMO ATM card, and a belly full of beer; I – like so many of you – harboured high hopes that we’d heard the last of him and Ford Nation; at least for a little while.

Sadly, such peace is not for us.

I am referring of course to the harsh words for The Griffin Centre – a non-profit org in the GTA…

This is unusual but I decided to reach out to the Tumblr community for help.

A classmate from Middle Tennessee State University is petitioning the government to begin screening newborns for 22q11.2 -- a common disorder that is often undiagnosed because routine screening is not performed. It's also known Velo Cardio Facial Syndrome. Her son went undiagnosed for 10 years and suffered through many surgeries. She is going to Washington to try and make changes. For a petition to be considered by the President there has to be thousands of signatures within a very short window of time. HELP HER OUT! Go to the link and fill out the information on the right. It literally only takes seconds, and she needs an astronomical amount of signatures. Please pass this along to your friends as well and also reblog. Thanks!