Skip to main content

wishbone

That would be Trevy's newest nick (we just like nickin' people in our house). Compliments of daddio...who says it's a great football (the American kind...for all my European friends ;o) name!


His toddler-y legs are SO bowed that he looks like a little lop-sided walking wishbone.


Today we finally get to see Dr. Ortho for the very first time. Our PT thinks Trev'll need some sort of bracing. Soooo...we're really curious about the outcome.


******************************

Dr. Genes was able to garner approval for the next phase of genetic testing.


So Trevy'll also be donating some dna to be shipped to a lab somewhere out there for micro-scoping.


We're looking for three things...


Rett Syndrome - which Dr. Genes assures is not likely but is always tested for with IS babies

A-typical Retts - which is more likely than the above...but Dr. Genes admits she'll be surprised if it comes back positive

ARX mutation - I'm not really clear on what this is...but she was able to tag it on with the others

*****************************

And then we'll be DC bound!


Comments

Molli Salzman said…
Good luck with the upcoming genetics tests. I cannot wait to hear how it goes in DC.

Take care
Mama Skates said…
ditto to what molli said - praying for u hun!!! xoxox
JSmith5780 said…
Just an fyi, don't expect the genetics results for 2-3 months. It's a long wait.

Hopefully Schumer has read my letter. I know others on the IS group have sent letters to their Senators as well!
Hey,
I just got back in from out of town...so I'm playing catch-up. Good Luck in DC!! I can't wait to hear about it. Connor goes to the Genetics Dr on Friday. this will be our first visit. I'm sure we'll be getting alot of the same testing.

Popular posts from this blog

No, I don’t know him personally

  I’ve had several emails today asking if I know Mike W. of Marissa’s Bunny personally.    Trevy’s blog was linked on her site.  Although it’s not now.     I’ve posted here and there at his request.  Because…well…we’re a community.  Us IS families.  And Marissa is wicked cute.  Her daddy has a way with words.  Also who wouldn’t want the world to know about an iPad give-away?    But aside from that…I know about as much as you do.    We’ve never met in person.    Our only communication has been cyber.    I’m a ginormous sap and as such would love to believe that all is right.  That the sweet, beautiful families who were promised iPads will be getting them tonight.  Tomorrow at the latest.  That no one has been lied to.  That the personal thank you for your generosity email I sent him on behalf of other IS families I’ve grown to love and was thrilled to learn w...

the great answer hunt in the land of Infantile Spasms

If I've said it once... I've thought it a million times more. How it's like the more I research...and discover...about IS. The more blurry everything becomes. For every answer found. A dozen questions are unearthed. Remember our whole ARX saga ? Yeah...that threw me for a loop. So much so...that I never went on to post the end of the story. Thus far... See...the unbelievable in the world of genes happened. Because this is IS-ville after all. After Dr. Genes sampled Trevy's ARX gene on a whim...a whim which revealed an unkown (meaning the first time this specific change was found) mild mutation...she proceeded to send Toby's blood off to mad scientist central. With assurances that this was totally unnecessary . She was convinced that Trevor's ARX mutation was the underlying cause of his Infantile Spasms. And that Typical Toby...would prove to be just that. Typical...at least in all areas mutate-able. And yet...Toby's ARX blood sample revealed THE SAME MIL...

I sure hope...

they grow back curly! Saw the "unknown" flashing on the face of my cell phone and knew who it was. Who it had to be. Dr. Fellow. My eyes met Grams' and I nodded. Grams has a pool, see. For super hot days like today. We're also having a septic installed. Which meant no water or facilities at my place. But those weren't really the reasons I was there. Close to mom. The purple ringing thing in my hand was. Only I wasn't prepared for it to be ringing SO darn soon. Shortly after lunch instead of dinner! I swallowed. Took a deep breath. And clicked connect. Dr. Fellow has a very nice phone tone. Clear. Hint of compassion. If only a stitch of humor were added...it'd be heavenly. But there was no humor. Just business. He's very direct. I'm learning that about him. Which explains his short hello. Followed by immediately pushing into the news. Being that it was a unanimous consensus. The entire surgical committee feels Trevor is a good candidate. And then p...