Pallister-Killian Syndrome

Robert Weigl

Born: July 08, 1999
Place: Ontario, Canada
Diagnosed: January 2001

Hi: I am Dana and here is Robert's story:
I had a bad feeling the night Robert was conceived, I chalked up the feeling to the fact that I already had a son and they would only be 18 months apart. When I was 31 wk pregnant I had a lot of bleeding that they could not the figure out.
While hospitalized they did an ultrasound that showed the baby to be fine, except for the head and torso were at 40 wks and the arms and legs were at 31 wks.
The bleeding stopped and they were not overly concerned and sent me home.

On week 33 Robert broke my water. He was foot breach and I had him C-section.
They took him immediately away and I didn't see him until the transport team arrived to take him to a neonatal hospital's ICU unit 45 minutes away. He was on a ventilator for 3 days and tube feed through the nose (NG feed).

On day 5 he was transported to our local hospital where he spent the next 2-month of life. That was so hard having to visit him and leave him alone at night.

Robert always screamed when he ate, I questioned the doctors as to why and they just kept saying it was his motility as he was a preemie. They ultrasound him and cat scanned him so much I started to get angry. They couldn't find anything wrong except for his large head and crooked foot.
Blood work showed all 46 chromosomes. The night before Robert was to come home I stayed at the hospital, hospital rules before discharge. That night before heading home I pointed out the lump in his groin and asked about his discomfort in eating, this got no response from the nurses. About 2:30a they took a look and he had developed an inguinal hernia. They call the pediatrician to put it back in and this was the start of our problems, constant trip to the children's hospital in Hamilton Ontario, where he was in the ICU unit.

Robert came home August 23 and he was back in hospital, 10 days later for emergency surgery, as his inguinal hernia reappeared and was twisted around his undescended testicle.

Robert was always a bit apenic and they said it was just him and he would out grow the gray spells. We were finally home again for about only 15 days when Robert Aspirated and this finally lead us to a diagnoses of severe reflux. This caused Robert to be back in the hospital ICU on a ventilator for about 10 days.
While there he contracted Viral Meningitis which they caught immediately and put him on antibiotics but we were in the hospital for 6 more weeks, as he could not eat without refluxing. The silent reflux problem has now become more apparent and his esophagus was badly damaged.
On Nov 4, 1999 they did a fundoplacations (tighten the esophagus value) and put in a G-tube (feed directly into the stomach). Home again only to return 3 wk. later with RSV, they missed his shot when he was a preemie even though I mentioned it several times.

Roberts Apneas continued and I was having problems keeping him breathing in January 2001. Back in the hospital I fought to find his problem, after a long battle someone listen to me and long story short he had emergency surgery to have his adenoids removed, then he was fine and happy finally. He was breathing through a ¼ of a nostril when they finally found the problem. Mother's instinct prevails again.

We developed our own feeding and venting techniques for Robbie, and eventually we got off tube feeds.

Robert syndrome matches: Broad Forehead, wide set eyes, sparse hair slightly lower ears but normal shape, Short nose, Short fingers, hands arms and legs, Hearing undetermined (constant ear infections), high arched palate closed, delayed dental, very hypotonic, reflux, accessory nipples diaphragmatic hernia, far sighted, Mentally and physically challenged.
No speech but wants to talk.
Dislocating left hip (anterior) not operable so they say still working on that. Roberts Chromosomes are different than other Pallister kids as the doubled set is on top of the Y chromosome not beside the X and Y.

Today: Robert is starting to hold his head up and controlling his trunk and wanting to stand with support, eats ground food no more G-Tube he loves to laugh and smile. He loves people and being in the middle of everything. Enjoys music. He has gained tremendous strength since is 3rd birthday.
Recently Robert went to an endocrinologist as his growth was inconsistent and they found that his Bone Age is 9 month and he is 3 yrs.old. Waiting further test to know what they will do next.
His hip brace is working great and now we can get him upright again and his constipation has ended and we don't have to use laxatives anymore.

Robert is now 90cm and 12 kg and doing great.

Updated on January 2003
Robert is in the 5% level but we recently found that is bone age is 9 months and he is now 3 yrs old. We are hoping that this is why his hip are not developing. The endocrinologist are shocked that there is a 27 month difference. They usually see it between 1 to 1.5yr difference. Some are guessing syndrome related other say hormone.

Roberts has 4 copies of the 12 chromosome. One normal copy of chromosome 12 and one copy of chromosome 12 in which a portion of that chromosome is present in 3 copies instead of the usual single copy. Usually they see in PKS the extra genetic material free floating piece of chromosome 12 and Roberts was attached.

The results of Robbies Growth Hormone test came back normal. His bone age is 9 months and his birth age is 3.5yrs. That is why his hips are late developing and they cannot surgically repair them. Time will tell with the hips and we just have to wait. The endocrinologist said that it is either a hidden part of PKS due to his different genetic break down or that he is a late blummer.
The plan at this time is to wait 6 month and then go from there.

Updated on July 2008
Robert has had 2 hip surgery's in the last 2 years on both hips.
The left dislocated anteriorly and the right posterior. Although the hip surgeries helped with the pain it did not stop the dislocations and help him to stand comfortably.
We are battaleing the standing in a stander and cannot seem to get him comfortable.

Robert is now rolling to his stomach and trying to roll back and makes it 10% of the time.

He is still eating ground food but will eat a sandwich but takes a long time to process the chew and swallow but that's improving.

He is trying to communicate with sounds. He can use a switch to activate things and loves that.

He is very happy and enjoys being around people.

He has night terror at night and we are coping with that.

He just turned 9yrs old

I'd love to hear from anyone on PKS

mailto: Tuff1@allstream.net

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