Thursday, July 19, 2012

Kindred spirits

Well I am delighted that one of the moms I became aware of through the genetic study got in touch with me.  (A Canadian hospital claimed to have found the gene that causes Taybi-Linder Syndrome and our genetics department got us involved in this study.  The results were that Ambrose did not have this gene but it is believed that he has this syndrome and that there may be another gene that can cause it as well.  Later we were contacted again because this study identified 2 other families who have also had 2 affected children who also tested negative for this gene and they wanted permission to do a more indepth genetic analysis.  I was so excited to hear that there are others, and asked for my contact information to be sent to these other families.)

My new friend lives in Canada and has lost two darling boys with this syndrome.  Tragically their lives were extremely short and the second died only a month ago.  My heart breaks for her, but we are both so happy to be in touch.  I hope that I can be a support for her.  She is a wonderful mother!

We have found so many striking similarities between our children.  (There are so few cases ever reported that the information is so limited.  There are many distinctive features that Sophia and Ambrose both share but I never knew if they were common to this syndrome.)  Some very specific details that all of our children share are: index fingers that cross over the middle finger, the last joint of the pinkies are bent at 90 degree angles, they have high vaulted narrow palates, and most significantly: unusual anatomy of their tracheas.  I have never seen this mentioned in any literature and it is so very important as it contributed to her children's death and has caused many episodes of respiratory distress in Ambrose before they finally figured out an appropriate custom made trach tube.

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