Top 5 Greatest Sentences

Last Friday we received an e-mail from our Kennedy Krieger Fragile X specialist that he would like to have a call set up regarding Princess’s test results. This e-mail made our stomach turn. It brought back the memory of Jimmo’s diagnosis. In April of 2007, we had gotten a call from our extremely overbooked Neurologist to see him the very next morning at 7AM to discuss test results. We knew there was not a chance that he was fitting us in so quickly to say – your boy is fine and it will all work out. So that same memory flashed before us. We spent the weekend preparing ourselves and talking it thru.


There were two possible outcomes:

1. She’s a carrier like her momma – and hopefully in 20 plus years when she goes to have children, they’ll be better ways to study her eggs versus embryos to determine which have Fragile X and which do not.


2. She has the full mutation. Because girls have 2 X chromosome’s, the other X provides the missing protein. About 50% of girls with the full mutation have cognitive disabilities and the remaining usually have learning disabilities.

Needless to say it was a long weekend and Tuesday at 3:30PM couldn’t come any sooner. And of course Tuesday at 3:30 I had to be in route with the kids to speech therapy and hubby was on Capitol Hill for the day – interesting timing for both of us. So as we’re sitting in traffic on the inner loop of the beltway, the doctor says to Hubby and I who were conferenced in together, so now that we know her results are normal, we can look at the full picture of Fragile X and your immediate family. Both of us said simultaneously – “Did you say normal?” Apparently the lab was supposed to send us a copy a few weeks ago and the doctor thought we had a copy and had a different agenda for this call. These words had to be in the Top 5 greatest sentences that Hubby and I’ve heard in our life. Right up there with – Will you marry me? I do...and...I do! I’m pregnant! I’m pregnant Again!

Princess is completely free of Fragile X and will not pass this on to her children. At least in our portion of the family line – Fragile X stops here! Thank you for all your continued prayer for our family.

Can someone please tell me how we went from here.......

to there.....so fast? Breakin momma's heart this girl.