Monday, April 16, 2012

What Does It All Mean?

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So, another FXS diagnosis...what does it mean for us?

More evaluations.  More worrying.  More watching.  More waiting.

I've only gone over Fragile X in relation to Ayden, so let me explain a bit again.  FXS is carried on the X chromosome.  Boys have one x from their moms, girls have two x - one from mom and one from dad.  So, Emmalina received dad's good x, and mom's fragile x.  Simple, right?  The complicated part is this:   with girls, they only use one x; however, their body chooses which part of what x chromosome to "deactivate" and which part to use.  So essentially she could have absolutely no signs/symptoms of FXS despite the fact she has it, but there is no way for us to know.  So we wait.  And we watch.  And if there are any delays then we'll deal with them as they come.

And then there are those pesky evaluations.  We have Emmalina's first one this week.  I'm not sure how other states work, but Michigan has this list for their EarlyOn program that essentially guarantees services until age 2 should a child have a certain diagnosis.  Fragile X is one of those diagnosis - so we started the process as soon as we found out.  Our new team will be out to go over the huge questionnaire that is the form these evaluations take at this early age, but most importantly we'll have a physical therapist coming to check her out as that is the one area I'm not familiar with in relation to FXS.

At this age, there is obviously not a lot to be worried about.  We haven't seen any delays at all, so that is very positive.  Looking back, we had a couple red flags for Ayden by 2 months such as his suck reflex and high palette. Emmalina has neither of those things and has hit her other social milestones just fine.  I will worry about her just the same, but it's comforting to know that so far we are on track.

1 comment:

  1. I have a student whose brother ha sFragile x ( he is also on mino). SHe "has" it too I believe she said but she doesn't have any signs. I assume that means the "good" x is dominant in her. SHe has some mild learnign issues that could be totally unrelated. SHe is heading off to college next year and plans to become a special education teacher. I know each situation is different so I know share this to show it can work out. THis student adores her brother and she says she doesn't mind at all if her children have fragile x. If they don't, she is thinking she might try to adopt a child who does.