Benjamin was born at the end of April, 2006 at 36 weeks gestation. My pregnancy was complicated only by high blood pressure toward the end. Labor was induced, and Ben was born quickly – the doctor never made it in time to catch him and he plopped out on the bed!
Right away we noticed that Ben was a little different. His right arm wasn’t completely formed and he had only 1 finger on that hand. He was very tiny (4 lbs 8 oz) and his head was smaller than normal. (None of this was noted on prenatal ultrasound.) He was, however, pink and vigorous, and seemed to be doing OK after birth, that is, until we tried to feed him. He stopped breathing each time and turned blue – very scary to see. Our pediatrician decided then to transfer him out of our local hospital to the NICU of our nearest tertiary care center which was more than an hour’s drive away. The transfer took place the day after Ben was born. Fortunately, I was able to be discharged the same day.
Ben was seen by a geneticist at 2 days old and diagnosed with Cornelia de Lange syndrome (CdLS). We were given a very poor overall prognosis for him, and I have to say it was one of the most difficult days of my life so far. But Ben did well in the NICU - the immediate problem was feeding. He was unable to eat by mouth without aspirating (breathing in his food) and so we had to find another way. In the NICU he tolerated feeds via nasogastric (NG) tube, and we prepared to have a gastrostomy tube placed as a long-term solution. However, the surgery was cancelled because the anesthesiologist was unable to intubate him. They felt that it was safest to wait until he was a little older and bigger before trying to do the surgery again.
We brought Ben home from the hospital with an NG tube in place the day before Mother’s Day. It was a very happy homecoming, and Ben’s brothers Isaac and Jonny were SO happy to finally have him home! We were able to handle the NG tube feedings without too much difficulty, but Ben had continuous problems with reflux (vomiting) with every feed. He was initially started on Zantac upon discharge from the NICU, but Reglan was added at about 1 month of age when he vomited so much that he was actually starting to lose weight. On both medicines he did reasonably well with his feeds. We used (and still use as of this writing) a feeding pump (a Zevex Enteralyte which we love) for all his tube feeds because he does not tolerate large volumes in his stomach. His bolus feeds are run over a 45 minute period.
We kept him on NG tube feeds until he was 5 months old. He finally had surgery in early October 2006 both to place a long-term G-tube and to have a Nissen fundoplication to prevent the constant reflux. The surgery was done laparoscopically (only 4 tiny incisions) and involved less than a 3 day stay in the hospital. Ben was sore afterwards for several days, but perked up nicely with doses of Tylenol with codeine!
Other than that, thankfully Ben has had no other major health issues that we have identified so far. He does have some hearing loss (which can sometimes go along with CdLS) and wears hearing aids during the day. He is developing very slowly, at his own pace, and we feel blessed to have him as part of our family, no matter what challenges we will face in the years ahead.