CdLS Story – Zackery

At the routine 20 week ultrasound, my son Zackery, was not cooperating so they ordered one for the 28th week. The doctor came in and said that the right arm looked like it was winged and that we needed to go for a 4D ultrasound. At 31 weeks we had it done and found out that not only was his right arm was not normal, but he also had heart problems and was small in size. There was also a blockage in the umbilical cord. We started going for ultrasounds twice a week to check the umbilical cord, and started doing any test we could to see what syndrome he had. All the test come back normal.

But at an ultrasound at the 36th week, we found out that there was barely any flow through the umbilical cord, so they sent me straight to the hospital so they could induce. Zackery was born September 28th. He sounded like a kitten meowing when he cried and he had a head full of hair. He was only 3 lbs 15 oz. They took him to up to NICU for evaluation. Later that day the geneticist came into my hospital room and said [...] continue the story

CdLS Story – Christian

After a high risk pregnancy, Christian was born two minutes before his twin brother Noah on June 17, 2005. They were both born seven weeks premature, and immediately the doctors noticed a concern with Christian. He was small in size (3.5 pounds), hairy for a newborn, and he also had a heart issue called Tetralogy of Fallot.

From the start, every doctor that looked at him had an opinion on his diagnosis: Noonans, Downs, and Noonans again. He seemed to have a few traits of each syndrome but not all of them. For the ones that had a quantifiable test, the results would be negative and other diagnosis was then thrown into the mix.

I was told that a diagnosis is like a label on a shirt. It will only give you the basic information on how to take care of the shirt, but it does not tell you how much you may love wearing it or how comfortable it is. Many times the label would just irritate the neck. I cannot say we were relieved when the geneticist said she thought CdLS, but it did seem to fit. As he grew, we had the usual challenges associated with his diagnosis. [...] continue the story

Briley Mae – CdLS

I would like to share with you today the story of my daughter Briley. Three years ago, I learned I was pregnant and was full of joy. I wondered, what color eyes will my baby will have? Will it be a boy or girl? Will it look like me?

I didn’t think about the “what if’s” like what if my baby has Down Syndrome or another kind of genetic abnormality. I just expected to have a healthy child. During a routine checkup at the four month mark, we were stunned to discover that our baby was not developing normally.

After I went through three amniocentesis to check for chromosome development, we knew our baby was in serious trouble. Our doctors sent me to Presbyterian Saint Luke’s Hospital in Denver to deliver where we received the news that our baby might not be able to breathe after she was delivered and that she may have heart defects, intestinal abnormalities, or fluid in the brain. God was with us that day because Briley came out screaming! She was born with a good set of lungs! It was then that we learned that Briley had Cornelia De Lange Syndrome.

Briley was born with a cleft palate, [...] continue the story