| Phoebe's karyotype is 47XX+13; she was born in
Trenton, New Jersey weighing 5 lbs. 4 oz. and 21". She was born with heart
defects but had corrective surgeries at 6 and 7 months, and at last measure
her pulmonary hypertension greatly decreased. There were a couple of other
operations too, and a few other hospitalizations due to illness. Though
Phoebe does have coloboma pupils she has good vision as well as hearing. She
has a G-tube since 15 months.
Update December 19, 2005:
Though subtle, I've been lately noticing signs of increasing cognitive and
expressive abilities in Phoebe. Some days after I made the movie of Phoebe
removing utensils from the dishwasher I closed the door on her when she
crawled over to do it again. She then sat directly in front of it waving her
arms while vocalizing until I obliged her by reopening it. On
other days she has gone right up to it touching and thumping the door with
her hands. This morning she passed it by and crawled all around the kitchen
to the cabinet that doesn't have doors and pulled out a large canister of
protein shake mix.
One night I had her in the up stairs bathroom while filling the bathtub.
While she was occupied with reaching for the water (the toilet must be kept
closed) I pushed her recently fixed brother's remote control car into her
leg. She reached down and touched the car a couple times while still gazing
in the direction of the tub. After a few times she
looked down at what was bumping into her leg; then after seeing it was
something unusual and unfamiliar (it has numerous colored lights) she pulled
her arms up to her sides and stared at it for a few moments with concern on
her face.
That's the first time I've noticed her demonstrate apprehension over seeing
something novel. Then when I was getting out the Christmas lights for the
tree a few days ago with Phoebe a few feet away I plugged one set in and
waved it to get her attention. She crawled over and just looked at them, and
after I put them down on the floor she got closer and slowly reached out and
touched them. Last year she would often roll to the Christmas tree and look
at it. This year after it was lit she sat and waved her hands looking at it
for a bit then got close to a group of glass balls her brother hung at the
bottom and broke one, but she
hasn't paid it much more attention since that first night.
Update November 2005:
Though Phoebe has been able to get up on hands
and knees since she was 1 yr she has yet to learn to crawl. She has been
able to sit up by herself, with her legs in a "W" position since 25 months.
Phoebe laughs and claps her hands. She moves around the room pursuing her
interests one of which is tipping over trash cans. She absolutely loves the
shower. Franklin Park, New Jersey, USA.
Halloween 2005
 |
Ironman
for Kids - The Living with Trisomy 13 Community thanks Michael
Hennessey for helping to raise awareness for Trisomy 13 and other
related disorders. 
to help update the medical literature and to improve the quality and
availability of medical care. Tracking Rare
Incidence Syndromes (TRIS)
Translation