From: Mandy Gianotti <mndygianotti@...>
Subject: Re: [MarshallSyndrome] Genetics
To: MarshallSyndrome@yahoogroups.com
Date: Tuesday, December 23, 2008, 10:37 AM

Hi Deborah, I am having a hard time on the computer today (the baby keeps shutting it off on me).  Can you call me?  I know its long distance, but if you call, I can call you right back so its on my bill!! Mandy Gianotti 850 200-2858 --- On Mon, 12/22/08, Deborah Hatfield <debhat70@yahoo. com> wrote: From: Deborah Hatfield <debhat70@yahoo. com> Subject: Re: [MarshallSyndrome] Genetics To: MarshallSyndrome@ yahoogroups. com Date: Monday, December 22, 2008, 3:21 PM Hi Mandy:   I would be more than happy to participate.  What ages would they like picture of.  (I am an avid scrapbooker and have literally dozens of pictures of James in each month from birth to age 1.  There is so little information out there that I am glad to help increase the knowledge of this syndrome any way I can.   Also, James is scheduled for surgery on February 9th to fix his palate.  The Dr. said only liquids for 15 days then soft foods for an additional 15 days.  And, James should wear arms splits the whole time to keep him from putting things in his mouth.  It seems a bit extreme, but we don't want anything to go wrong.  Any suggestions on how to keep a very hungry toddler satisfied on a liquid diet?  Thanks.   Deb --- On Sat, 12/20/08, mndygianotti <mndygianotti@ yahoo.com> wrote: From: mndygianotti <mndygianotti@ yahoo.com> 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