Marek Soetaert
Born 08/06/02
Written by Grace Davies (Marek's mommy)
Alberta, Canada

Marek is our only child and the best gift that has ever been given to his daddy and me. Our little man was born (August 6, 2002) at 41 weeks, weighing in at 9 lbs, 9 oz and measuring 21 inches. His apgar scores were 7 and 9. We had the perfect little muffin man. He was and thankfully still is healthy.

Marek relaxing

At six weeks I went to my family doctor in tears because my little boy was not noticing his surroundings. According to the books I had been reading we should have been seeing him interact more with people. My doctor assured me that in time all of this would develop.

It wasn't until Marek's 6 month immunizations and the health unit nurse telling me that my son appeared to be "retarded" (yes, that is the word she used) that I started to get pushy. We took him to see our pediatrician. He told us that Marek may have neurological problems and suspected that his optic nerve was not attached. So... along the long, emotional hilly road we went. MRI's, opthomologists, neurologists everything was coming back normal. Then at 1 year and 5 days Marek experienced a grand mal seizure. So far, that has been the most terrifying experience for us. We watched him turn blue and his core temperature dropped incredibly low. Then in two weeks he had another seizure, stopped breathing and was rushed to the hospital again.

Marek working hard.

The pediatrician was now pushing for more answers. Unfortunately, we live 5 hours away from him. That next year we spent a whole lot of time on the highway and in the air driving and flying back and forth. When the geneticist finally became involved she looked at his symptoms and immediately suspected CDG since she had recently been to visit doctors at two hospitals and met families with children who were hospitalized with complications from CDG. I think we were very fortunate. The blood tests came back positive for CDG type 1 so then the skin biopsy was done. It took 18 months for the biopsy result to come back as type 1c.

Our road has been very hilly! We are grateful that we have our son. He helps us to slow down and see the joy in all the little things in life; how awesome it is to experience a belly laugh, the neat feeling of legs kicking in the water or splashing the water in the tub! He is in preschool three times a week and at just the mention of school he wiggles his little self around and gives us a big grin.

eff: 2005