The Latest on Audrey

Without getting into all the play by play, the long and short of our wonderful news is that Audrey (AND Seph, Emily and myself) have all been accepted to a genetic study through the University of Washington!!!!!  This was huge news I received the Friday night before our big Toodle Bug Trolley Run.  We will all go and get our blood drawn and submit for an indefinite genetic study to attempt to isolate the genetic cause of her brain malformation.

Our Toodle Bug finishing the Trolley Run on her own TWO FEET! A very proud moment for me!

The biggest relief that comes from this news is that we, in a sense, have gotten a "second opinion" on Audrey's MRI.  Hearing confirmation that she does NOT have Joubert Syndrome (the molar tooth sign) which is sometimes found with OMA kids and can lead to liver/kidney failure was a relief.  The reason being that those with it in the support group commonly have the diagnosis MISSED by the first reading.  However, that does NOT rule out liver/kidney or seizures in the future; only the Joubert Syndrome diagnosis.

The University of Washington's findings from her MRI are "occipital subcortical columnar heterotopia (neuron that are not in the right location) with cerebellar dysplasia".  The different classifications of misplaced neurons is brand new and very little is known; hence my feelings that the more research studies we can participate in the better.

And some MORE GOOD news regarding Audrey is we have seen the physical therapist twice in the last three weeks as her walking has increased to really be sure we aren't missing the need for any type of braces or inserts in her shoes.  And today both her occupational AND physical therapists agreed her ankles and pronation have greatly improved in the last three weeks and to hold off on a orthopedic evaluation for now.  I mean she really is progressing amazingly - falling less, walking on various surfaces, can propel her riding toys, increasing her heal to toe strike and weight shifting continues to improve.  Having those expert eyes and analysis is truly priceless.  I am forever grateful for the resources that surround us!!!!

TOODLE BUGS!

And on that note a HUGE SHOUT OUT TO ALL PARTICIPANTS and CONTRIBUTORS to the Team TOODLE BUGS!  I will blog more specifically about the Trolley Run soon, but suffice it to say it surpassed all of my expectations by a land slide!!!

Emily Jo is Audrey's biggest motivator - a WONDERFUL BIG SISTER - a blessing for sure!