Pallister-Killian Syndrome

Alex's Story - by Lisa Woodbury

(kidsmom@volcano.net)

Alex's Story by Lisa Woodbury, his mom

Alexander Woodbury was born July 26, 1999, when my membranes ruptured prematurely. It had been only the day before that I had learned that the baby I was carrying had an intestinal blockage that would require surgery immediately after his birth… I was scared.

For 3 days I lay in the hospital bed waiting. I was told not to get up except to use the restroom… Alex was coming early and the doctors wanted to hold off on the birth to give him as much time to mature as possible. I was afraid because he was coming early, but mostly I was afraid of the pending surgery I knew he would have to undergo so quickly after his birth. But when he was born, they put him in my arms… he was the most beautiful thing I had ever seen, and nothing else mattered.

After surgery he was in intensive care for 3 weeks. My husband had to work and grandma stayed with our 4 year old 60 miles away, so I was on my own with Alex. I was afraid. Alex didn't eat, open his eyes or even cry. It was during this time that we learned Alex had Phenylketonuria (PKU). The doctor's suspected there was something else "wrong" with him also, yet all the tests kept coming back negative. But I knew that Alex was not like other babies. The other babies in the ICU would cry, wiggle around, eat… Alex never made a peep. But when I held him in my arms and felt his sweet breath on my skin, nothing else mattered.

After 3 weeks Alex "graduated" to the other nursery. His intestine had healed and he was able to take food now. The nurses showed me how to give him the special PKU infant formula through his feeding tube (ng tube). He cried for the first time when they inserted the feeding tube up his nose and into his belly. And then came the glorious day when I got to nurse him. He was able to "latch on" right away and nursed on his own! That was one of the happiest moments of my life! This little baby, who had been through so much already in his short life, was determined to suckle and to get comfort from his mommy!

After nearly 4 weeks at the hospital, Alex was ready to go home. Each day I mixed his special formula, and each day I was allowed to nurse him for brief periods. I held him, rocked him, sang to him. Alex never looked at me, or at anything else for that matter. His eyes would flicker back and forth, never focusing on anything. He never smiled or laughed. I was worried and depressed. If he couldn't look at me and he couldn't smile or laugh, how would I ever know if he was happy? How would I know if he even realized I was there?

When Alex was 5 months old the doctors said they believed Alex had Pallister Killian Syndrome (PKS). The geneticist said that he would have a shortened life-span, that he would be severely mentally retarded, that he would probably never walk or talk, and that he could have any number of other problems, including blindness and deafness. One doctor said that he may never smile, never laugh. On that day after we received this news, Alex was hospitalized due to low oxygen saturation levels. It was the third time this had happened since his birth. Once again Alex and I were in the hospital, a long way from our home and our family.

Well Alex is two years old now, and hasn't been hospitalized for well over a year. He is healthy and doing more than many people thought he would. He is learning to eat orally, he is "talking" (babbling really, but definitely vocalizing and letting his feelings be known!), he can sit briefly, "play" with his big brother, and scoot half way across the room on his back. He is quite pleased with himself when he does this. But most importantly, Alex has learned to smile and to laugh! Alex's smile can light up any room, and his laughter is contagious! In fact, when Alex laughs, everyone around him stops what he or she is doing and laughs with him. He has learned that laughing is the best way to get attention and he LOVES attention!

Sometimes people look at me after meeting Alex, and I can tell they feel sorry for me. At these times I wish I could help them to see the world through my eyes. I don't feel afraid or depressed anymore, I feel blessed and honored to be the mommy of this precious child. None of us know what the future holds, and I certainly don't know what lies ahead for Alex, but I know that whatever it is we will face it together, and with Alex's help, we will face it with joy and laughter.

Alex has taught me that:

Lisa Woodbury
Last update: 04 December 2003




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