Pallister-Killian Syndrome

Todd's Story - by Sally and David Quist

(quister@rochester.rr.com)


Todd Quist

Born: November 21, 2001
Diagnosed: January 2003
Place: Rochester, New York, USA

Please allow me to share the story about our darling son, Todd. This and this is my family.

Todd was diagnosed with Pallister-Killian syndrome in early January 2003. He is now almost 18 months old. Todd is a chubby happy baby.

He is significantly delayed as he is about at the 4-5 month level now. He can sit for a few minutes unassisted but then topples over and does not have the reflex to catch himself. He can also roll from his belly to his back (his favorite position :), and from side-side, but has not mastered back to belly as yet. PT is helping. His small motor skills are still very much delayed. Last week he surprised us by turning on the music box in his crib by banging his feet against the box and has done it several times since then. We are so excited - cause and affect!! Yeah!!

Todd's birth was relatively uneventful. I went into labor at about 11:00am on November 20th and went home from work to find out how fast I would progress. He was born at almost 2:00am on the 21st soon after my water broke naturally. The cord was twice wrapped about his neck and the doctor successfully freed him during delivery. The nurses kept him for what seemed an eternity doing their evaluation and I can remember asking my husband Dave, why won't they bring him to me - what is wrong?? His APAR scores were fine and he was breathing well on his own. He had a deep sacral dimple, deep furrowed brow, and an extra wide right big toe.

After a bit they did bring him to me… so beautiful! He nursed well and since Thanksgiving was on the 22nd they agreed to send us home. The first few days we wonderful although the doctors had already planted the seed that something might be wrong.
The Friday we came home I gave Todd a sponge bath and he cried very hard. He also had a protrusion up near his belly button. Afterward he was very listless and had no interest in eating. We made our 1st trip to emergency where they tested him for jaundice. The urologist was called in and indicated he had a hernia and that his Billirubin was quite high. They were able to reduce the hernia. He ate well over the next few days and I bathed him again on Thursday. Again the listlessness continued. We went to see the pediatrician on Friday and they indicated he did have a hernia. After the urologist tried unsuccessfully to reduce it we went to the ER again. They reduced the hernia with great effort and we were admitted. He did have double hernia surgery a few weeks after birth but came through that well.

Life since our Todd's first few months have been filled with doctor's appointments and tests as we tried to determine what was affecting Todd's development. Skin biopsy in December 2002 came back positive for PKS.
We have (thankfully) been involved in early intervention since July 2002 and he receives PT, Special Ed services and Vision services at our home and at our daycare provider's home. We have also had a consultation with an Occupational Therapist and have a meeting scheduled with a Speech Therapist.

We also have an older son, Robby, who is 4 years old and a bundle of energy!

It is difficult and frustrating, but I guess just being a parent is difficult and frustrating too... I am so thankful to have two beautiful boys. One is just little more special . We are so blessed to have a wonderful supportive family and friends.

We welcome anyone emails from anyone who might have any suggestions on therapy, treatment or support! We would also be happy to answer any questions anyone might have for us.

Thanks!

mailto: quister@rochester.rr.com
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Last update: 06 May 2003


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