A rare diagnosis within the first week of life

When Ilian was born a few weeks before Christmas in 2014, his mom and dad were looking forward to bringing their new baby home and settling in for the holiday season. Parents for the first time, they were overjoyed by the birth of their son, but within hours of his arrival, it was clear something was wrong.

Mélanie gave birth to Ilian at Hôpital du Sacré-Coeur. “Ilian’s abdomen was visibly bloated and he wasn’t able to pass any stool,” says Mélanie. An x-ray showed that he had a blockage in his intestine. The team at Sacré-Coeur wasted no time in preparing his move to the Montreal Children’s Hospital. Before Ilian was two days old, he was taken by the MCH Neonatal Transport Team to the Children’s Neonatal Intensive Care Unit (NICU).

Within hours of arriving at the Children’s, the two parents met pediatric surgeon Dr. Sherif Emil. “Dr. Emil suspected Ilian might have Hirschsprung’s disease,” says Mélanie. Treatment was started right away to improve his abdominal distention and special x-rays were ordered. The diagnosis was confirmed five days later after the results of a biopsy were finalized.

Hirschsprung’s disease is a rare condition in which a portion of the baby’s intestines lacks the appropriate nerves. That portion of the intestine cannot relax and produces a blockage. The disease mostly affects the large intestine, also known as the colon, and is usually diagnosed in healthy term newborns.

A lengthy surgery

Once Ilian was diagnosed, the next step was surgery to remove the part of his intestine that wasn’t functioning properly and create a new rectum. At only seven days old, however, it was preferable to allow him to go home, grow, and bond with his family, who were taught how to keep his colon decompressed. “We were very vigilant about looking after him, but we also felt completely comfortable with everything we had learned before leaving the hospital,” says Mélanie. In the third week of January, Ilian returned to the Children’s for his surgery which, although lengthy, was very successful. The surgical team performed several biopsies during the surgery, and they removed 20 per cent of his large intestine, about 17 cm, then reattached the intestine to the anus.

Even though there were certain stressful moments for the new parents, Mélanie says their experiences at the Children’s during the week Ilian was born and later on for his surgery were very good. “Dr. Emil was great. He was always available, and he really explained things to us. Whenever we called him, he would get back to us so quickly.” They were also grateful to social worker Kevin Brady, who provided them with valuable advice and support. Mélanie also credits lactation consultant Mireille Béchard who supported her tremendously in helping fulfill her wish to breastfeed Ilian once he was doing better.

A healthy little boy

Ilian continues to be followed closely by Dr. Emil and the surgical team, a follow-up which will continue until his teenage years. He is expected to do very well as he grows up. As he approaches his first birthday, Ilian is as active as any other child his age. “He’s full of energy,” says Mélanie. “He’s such a healthy little boy. We have everyone at the Children’s to thank for that!”