Marie's Musings

Musings from the mundane day to day life of a mom of 9 to more serious ponderings of the day.

Wednesday, December 03, 2008

Tired but thankful

Long day yesterday, the specialist is over an hour from here, so its a loong drive. The appt was good, praising God that the doc took me seriously and that I was able to communicate anything at all while chasing Gideon.

When I brought up sotos syndrome, she indicated had I not, she would have brought it up herself just from looking at him. He has the facial charateristics as well as the overgrowth, so those are two of the big things as well as the severe speech delay and low muscle tone. So we had blood drawn yesterday to start the genetic testing. They will do two tests, one to look at the sequencing to see if anything is out of order and then the second will look to see if any part of it is missing. Then if those two dont find anything, they will do gene testing for the specific gene that can cause sotos syndrome. The first set of tests will take 1 to 3 months to get back, so definitely not a quick result test. I was surprised to find out they only had to draw blood to do the test, I thought it would be more involved somehow.

What is sotos syndrome -- it is a genetic condition that causes overgrowth in the younger years(that normalizes off ) and distintive facial features(large head, widespace eyes, long narrow face with pointed chin), developmental delays(especially in the speech area) and other physical issues such as trouble with coordination. IQ tends to be normal but can range from mild to more severe mental retardation. It can just be some learning disablities in school to not being able to live on your own. From what we see now with Gideon though, he understands far more than he can say, but time will tell on that front. Typically the muscle tone improves, so if he does have this and it improves, he may get to ditch his braces. The developmental delays tend to catch up somewhat.

The doctor was also pleased with how his leg is doing. She really thought it was great and was raving to the students(its a teaching hospital) about how this is what aggressive treatment looks like. It was kinda nice, since Ive only been doing half of his treatment(wearing his compression stocking) and havent really done the massage at all (need to get back to that). I tried to tell her that we havent been doing the massage but she was so pleased with the results regardless that she wasnt listening well.

If this proves to be a correct diagnosis, it lets me off the hook. I have long wondered if inducing him early at 37 weeks caused some of his issues, his developmental delays, etc. If there is a genetic finding, that becomes a non issue.

Well have to get moving, God is good ... all the time



  • At 9:44 AM, Blogger Julie said…

    That sounds like great news- and some just waiting- ugh! Hang in there!

  • At 10:28 AM, Blogger WriterGrrl said…

    My kid has Sotos syndrome, and I write all about him....

  • At 6:19 PM, Blogger Michelle said…

    I'm glad the doctor listened to you and is proactive! It is the single best characteristic I think in a doctor... one that's willing to listen and act. I hope you get answers soon. I know how hard it is to deal with the unknown. Prayers and love coming your way!


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