February 15, 2005, is a date that will remain etched in Eve and Sébastien’s memories forever. That was the day the young parents of one-year-old Félix and three-month-old Léanie showed up at the CHU Sainte-Justine’s emergency room with their baby in their arms.
Léanie appeared to be suffering from a routine infection that was slow to heal, but the team at Sainte-Justine suspected something else was amiss. Her condition was deteriorating at an alarmingly fast pace. She quickly became lethargic and refused to eat. Then she lost consciousness. It turned out her heart wasn’t pumping enough blood to the rest of her body. The verdict: dilated cardiomyopathy, a rare disease characterized by a weakened heart muscle. They almost lost her, more than once. Like the time her tiny heart was on the brink of giving out.
As I came into the ICU, there were a bunch of lights flashing and alarms going off, and about 15 people in her room. That’s when it dawned on me that it was my baby they were all in there working on.
The fast response by the intensive care staff and the cardiologist in charge of Léanie’s case saved her life. But that was just the beginning of a 14-year journey during which that very cardiologist, Dr. Gregor Andelfinger, practically became a member of the family.
The team pulled out all the stops for several weeks straight to understand what exactly was happening to Léanie’s heart and to gain the upper hand over the disease. They suspected a genetic cause, but test after test revealed nothing of the sort. They concluded that whatever was wrong with Léanie wasn’t hereditary. Reassured, Eve and Sébastien decided to go ahead and have a third child.
But Eve continued to harbour concerns during her pregnancy and insisted that the fetus be tested. Nothing showed up. And when Alice was born, she seemed to be the picture of health.
But five weeks later, an ultrasound revealed that she shared her sister’s heart defect and wasn’t pumping enough blood to her extremities. Because the condition was caught early and stabilized, Alice’s development wasn’t adversely affected.
Alice’s condition was a shock for her parents – and for me. Contrary to what was initially believed, the disease was indeed genetic in origin. Despite extensive research, I couldn’t find any similar cases anywhere else in the world.
Driven by a deep-seated desire to understand the situation and backed by the donors of the CHU Sainte-Justine Foundation, Dr. Andelfinger pushed his pediatric cardiology research to the next level. Using new decoding technologies, he finally pinpointed the cause: an extremely rare genetic mutation carried by both Eve and Sébastien and, as luck would have it, passed down to their daughters.
A possible cure… thanks to you!
The support of our donors has made it possible to make a great deal of progress for children born with a heart defect. But despite all the strides forward in recent years, the teams at Sainte-Justine are limited in what they can do for Léanie and Alice.
Both girls will have to stay on a course of drug treatment so their heart can function “normally.” And their condition could keep them from having children of their own later on down the road. Dr. Andelfinger has no intention of throwing in the towel. He is determined to find a solution.
Thanks to you and the research advances that are being made, we have been able to identify the cause of their heart defect. Now, we have to keep going to find a definitive cure.
And a cure, it will be! We are now intent on exploring a particularly promising avenue, thanks to your donations: creating valves from a patient’s own cells or with a biological pacemaker that will grow with them. These breakthroughs could make a huge difference for Léanie and Alice, as well as the hundreds of other children who are treated for heart defects at Sainte-Justine every year.
While researchers continue their work, Léanie and Alice are busy enjoying life. Little Alice is a bundle of energy who grabs life by the horns – and doesn’t let go! She acts, dances and does gymnastics. Léanie is in a special gymnastics-oriented academic program in high school. Despite the initial signs of scoliosis, which may be linked to her medical condition, she performs at a very high level.
Dr. Andelfinger has changed our daughters’ lives. Without his dedication – and the dedication of his whole team, they would not be living life to the fullest like they are now. We haven’t won the battle yet, but the progress we have made so far gives us hope. Especially when we know there are people like you to make it possible!
Listening to both girls speak with such passion – and seeing the gleam of pride in their parents’ eyes as they do – it’s clear what a wonderful success story this is. And the story will have an even happier ending someday soon when a cure is eventually found!
