Introduction

[Guest guest]

Hi. I'm and I have five kiddoes, the youngest of which,

Quinn, has partial lissencephaly. Dr. Dobyns should have Quinn's MRI

now--the geneticist thinks it's likely PMG and is looking for

confirmation.

Quinn will be a year old on Jan. 8. He's a happy baby,

developmentally around 5 mos. He'll start solids this week

(currently exclusively bfed). He is on Trileptal for seizures and

Prevacid for reflux. Quinn has Speech therapy twice a month, OT and

PT each weekly, vision therapy every couple of months or so. His

tone is low unless he's excited at which point he becomes fairly

rigid. He doesn't yet sit. He orients to sound and has begun to

scoot himself a little toward things he finds interesting--mirrors,

high contrast toys, sounds. He has intermittent exotropia and his

functional vision is about 20/310, so his visual input is

compromised. He loves pat-a-cake and peek-a-boo and most kinds of

music--he will " talk " to the organ at church. He doesn't often sleep

through the night--usually three hours is about as long as he goes.

His nap patterns are irregular. He's had 2 CTs, an MRI, two EEGs,

ultrasounds (and x-ray) which ruled out leaky bowel and inguinal

hernia.

I've been " lurking " for awhile and am encouraged to realize that I'm

not alone on this path. There's not much info out there unless it's

from parents (as I'm sure you all know!). My husband left when I was

just beginning the second trimester with Quinn (before the ultrasound

showed the baby's abdominal ascites and enlarged rear ventricles in

the brain). He's an MD/PhD and in the past I've relied heavily on

him for medical/health info for our older kids. The situation rather

prevents that now. I'm grateful to have found you all and look

forward to learning more from and about you.

I'm wondering what your days look like as far as therapies,

appointments, etc.? I'm pretty busy with all this (plus the older

kids)--does it slow down? Is there any such thing as " typical " with

PMG or does it depend entirely on the other diagnoses for each child?

Thanks and Happy New Year,

mom to 11yob, 9,6,4 yog and Quinn, 11 3/4 months