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 he knew what was wrong with my son and said it was Cornelia de Lange syndrome.

I was just happy to finally get a diagnoses. We later found out that he is missing his ulna bone in his right arm, has a VSD and an ASD, and valve malformation in his heart, vision problems, hearing problems, and feeding problems. I spent the majority of my time in NICU with him for the next 3 weeks, but when I did leave I was doing research. It turned out that the geneticist was the only doctor that had even heard of the syndrome, so while I educated myself, I educated them to.

I told them how to treat my son. We had a g-tube placed when he was 2 weeks old, and a week later after learning how to use the g-tube equipment and explaining to the doctor for the hundredth time that he will never weigh as much as the normal premie, we came home. After we came home, we had to see the pediatrician, GI doctor, eye doctor, ear doctor, and an orthopedist, and feeding therapist. We also got set up with the early intervention program.

I quit my job so that I could stay at home and be his caregiver. He now has pt, ot, hearing, feeding, and vision therapy every week that keeps me going. He has a hearing aid for his right ear and we are learning sign language so we can also use that to communicate. He is now almost 9 lbs at 14 months and is eating stage 2 baby foods and drinking out of a bottle along with feedings through his tube. He has some developmental delays, but he is starting to sit up.

I was blessed with two great sons. Thomas who is 6 and Zackery. Thomas is great with his brother and tries to help take care of him. Thomas says God needed a special family to take care of Zackery that’s why we got him, cause he just needed lots and lots of love and we have more than enough.

Story Published On: December 6, 2011 2:16 PM