Archive for June 17th, 2008

He’s Got the Look

I wanted to hug my new family doctor yesterday. We were talking about Matty not being comfortable with doctors and medical buildings.

Here’s the conversation:

Kevin:  He has fragile X syndrome so he isn’t very comfortable here.  He doesn’t like doctors.

Dr. A:  I saw him and thought fragile X.  He has the look.  I just didn’t want to say anything.  It’s no wonder he don’t like it here.

Beth:  Oh it’s okay.  We love it when people, especially, medical people know what fragile x looks like!!

Dr. A:  (talking to Matty) Well how about we get you a sucker as soon as I’m done here.

Matty:  (in a very soft voice) uh huh!

I was so excited that a doctor could look at my son and KNEW what he had.  She admitted that she knew little about it but just the fact that she knew that much was amazing!!!  Matty has 4 more years with his pediatrician and I know feel comfortable making the switch to this doctor when the time comes.  I know I will be able to provide her with information from the NFXF and she will be grateful for it.  Like his pediatrician, I can see her studying fragile x so she could provide the best possible care for Matty.  Sweet!!

Oh and Matty did get to pick out a sucker after his appointment.  He actually smiled at the doctor once he picked it out!!

5 comments June 17, 2008


Autism & Fragile X

C’est Moi


Overly happy, married, working mom to 4 kiddos. This is our journey while working with fragile x syndrome.

Who are these people?!

all names changed to protect our family
  • Kevin ~ dad
  • Beth ~ mom & fragile X carrier
  • Lauren ~ 17 & in 12th grade
  • Austin ~ 14 & in 9th grade
  • Matthew ~ 13, in 7th grade, has full fragile x mutation, and autistic tendencies
  • Rachel ~ 10, in 5th grade, has full fragile x mutation, and autistic tendencies
  • Theresa~ Beth's best friend since 6th grade & her biggest supporter

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