From: mndygianotti <mndygianotti@...>
Subject: [MarshallSyndrome] Genetics
To: MarshallSyndrome@yahoogroups.com
Date: Saturday, December 20, 2008, 6:09 PM

Hi everyone,

When Little Dean had his latest surgery to redo his palate the
genetics team was able to get our insurance company to pay for the
genetic testing for the Marshall's syndrome. This was in the
beginning of may of 2008. The results were back by mid june and
they came back as sticklers syndrome which I thought was odd because
Dean "looks" Marshall's and not sticklers. Anyway, yesterday our
geneticist called me to let me know that the when the lab was
putting the data into the computer they entered the wrong code (easy
to do since the gene is 11A1 and 11A2). I'm surprised the lab
realized their error, especially since all this happened 6 months
ago! So, our geneticist also wanted to know if I would be willing
to send in pictures of Dean as a newborn and small baby. I told her
that of course I would. These pictures are going to be used by a
genetics professor for his class as a unit on rare genetic
anomolies. I feel that by allowing my child to be used for teaching
methods can only help in the fields of research and eventually
finding how they can prevent all of the symptoms that come along
with this syndrome. If anyone would like to help in this cause
please e-mail me and I will pass along the information to our
genetic counselor. Right now, all they are asking for is photos. I
plan on sending pictures of Dean from birth to present and I offered
to bring him down to UWF if the professor would like to present him
to the class.
Merry Christmas!
Mandy