We talked to Dr. Milewicz and a co-researcher, Ellen Regalado on New Year's Eve. They are at UT Houston and work with the John Ritter Research Program in Aortic and Vascular Diseases. Dr. Milewicz is the one who discovered the ACTA2 mutation and they have 20 individuals in their study with the R179 mutation.
We are going to send them a skin sample from Iris's arm, which they will use to make into stem cells and then into smooth muscle cells. They need her cells in particular because her mutation is R179C instead of R179H or R179L. Since her mutation produces cysteine it creates more of the protein than with the H or the L version. (I don't understand this very well, I'm just quoting what they said to us.)
Iris was supposed to have the MRI/MRA/ultrasound on the 12th of January and then we were to meet with the neurologist on January 13 but with there has been a tremendous scheduling problem at the hospital and they've had to move the MRI/MRA/ultrasound back to January 23. I spent the bulk of yesterday afternoon on the phone trying to deal with the scheduling and finally lost my cool towards the end of the day.
The highlight of the day was getting a gift in the campus mail from a mystery person at work who sent me a glass flying pig.
 |
| Penelope the Pigge |
With her head-strong determination and good fortune,
Penelope is the perfect depiction of overcoming impossible odds!
Her personal wager against anyone using the phrase
"When pigs fly!" has brought much abundance and prosperity indeed!
No comments:
Post a Comment