Photo Album & Videos
Living with Trisomy 13 - Patau's Syndrome

Phoebe Heisler Konik

 

Born: August 14, 2002 

  Bloomsbury, New Jersey (NJ) - Full Trisomy 13  
 

 
 
Video Gallery Click here to view a VIDEO 2 of Phoebe added 12-05
 
  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

 

William Heisler: Click here to E-Mail  submitted: 1-15-05