No one could tell Meagan Ribera what was wrong with her son. She had taken him to doctors across New England without getting an answer. All she knew was that he had multiple issues: He was blind in one eye and had 20/400 vision in the other; he was born with a hole in his heart; had orthopedic problems; multiple cardiac concerns; developmental delays; cognitive delays; and a speech disorder called childhood apraxia of speech. Worst of all, he suffered constant severe respiratory problems. “He was pretty much chronically sick for the first eight years,” Meagan says.
The situation came to a head on October 26, 2012. “He didn’t look good; he didn’t sound good,” Meagan recalls. “He was sitting next to me and his breathing sounded weird. He has trouble with his speech, so it’s hard for him to try to put into words what is wrong. I looked over at him and he said, ‘I can’t breathe. I need doctor.’ When he put those words and those sentences together, I knew he was in trouble.”
Then Michael started breathing really noisily and hard: His stomach was going in to the point where you could see his ribs, then his stomach extended so far out that he looked pregnant. “I called my husband and said, ‘Michael’s gray and he’s not breathing right!’ And my husband said, ‘Call 911!’” As she talked with the 911 operator, Michael threw up, had a seizure, and lost consciousness. “I was sitting on the kitchen floor crying, holding him. I remember I had the phone on speaker, and I was screaming, ‘He’s dying!’ I thought he was dead in my arms,” she said.
Michael survived that incident, thanks to the skill of the medical staff at Connecticut Children’s, but there was still no answer about why he was having these respiratory issues. Then, at his next regular appointment, Michael was referred to Nicholas Bennett, MBBChir, PhD, who had just joined the staff.
Life-Saving Infusion Therapy
“Once I saw him, I could see the problem,” Dr. Bennett recalls. “It was one of those situations where I walked into the room and said, ‘I know exactly what’s wrong with your son, and I can get him better.’” Dr. Bennett had looked at Michael’s immunology tests and recognized hypogammaglobulinemia, a rare disorder that compromises the immune system and was responsible for his respiratory problems. More sophisticated genetic tests revealed that he also had oculofaciocardiodental syndrome (OFCD). Michael is one of only a handful of boys to survive with OFCD, and is almost certainly the only boy on earth to have both OFCD and hypogammaglobulinemia.
To treat the respiratory problem, Dr. Bennett started Michael on immunoglobulin, which is delivered intravenously in four-hour infusion sessions once a month. The results were both rapid and dramatic. Within two or three weeks, his respiratory problems had vanished. He no longer suffers massive breathing crises, and he is able to go to school without losing months to his illness.
♥ Interested in learning more about the Infusion and Dialysis Center Campaign? Visit our campaign page for more information on how you can help!