I would like to thank everyone who has visited my blog! After a not so swell day, it was awesome to see a message that my blog had its best day ever (as in number of hits). And then even more awesome when I saw an email from three days ago saying my blog had its best [...]
Below is the verbatim results of Maddie’s UBE3A mutation test. If anyone else wants to post theirs, just for comparison or whatever, please do so via the comment/ leave a reply section after this post. If you’d rather I do it, just email me!
July 1, 2001
The University of Chicago
Genetic Services Laboratories
Results
All 10 coding exons of the UBE3A [...]
Look up Maddie’s UBE3A test results and post it verbatim here.
Its interesting to compare with other parents. And astounding that such a small misprint has such immense results.
Once we had a chance for the words “Angelman Syndrome” to sink in, we awaited the test results.
I was crushed again when the test result came back normal, negative for Angelman Syndrome. Dr. K told us to come back in a year to follow up.
I had fully bought into the diagnosis of Angelman Syndrome, I [...]
My oldest daughter, Madeline, was born in November 1997. With hindsight, I can see she had “issues” since she was around 6 months old.
Looking back, she had pretty frequent reflux and vomitting. It would take an hour to nurse her and try to keep her in a good position so everything didn’t come back up. [...]
