Three-and-a-half-year-old Lyana is the only fair-haired, blue-eyed child out of seven siblings. She has a severe form of Noonan syndrome, which is one of the most frequently occurring of the rare genetic disorders, affecting about one in every 2,000 children. Her chances of making it to her second birthday were only 20%. But today, because of the faith you place in research, she’ll soon be blowing out four candles on her cake.
Lyana is one of the few children whose syndrome actually affects her heart since she was born. Without treatment, her cardiac muscles will keep growing thicker, putting her very life in danger.
In 2017, as a last resort, the decision was made by pediatric cardiologist and researcher Gregor Andelfinger and his team, along with Dr. Marie-Ange Delrue, geneticist, to go in another direction with her care. Based on an extensive study in association with experts around the world, they decided to administer trametinib, a drug traditionally used to treat certain forms of cancer, as part of a compassionate use program.
To everyone’s great surprise, her heart returned to its normal size.
This discovery was the light at the end of the tunnel for us. Without it, Lyana would no longer be with us. They literally saved her life.
Lyana was “patient zero” for this breakthrough, the first to be treated with trametinib for a heart condition. The first, along with her parents, to embrace the unknown. The first to blaze a new trail for others to follow.
Lyana is changing the lives of children around the world who were born with the same problem and who this drug may be an effective alternative for.
As extraordinary as this development is, Lyana’s path to a cure is far from over. How long will she have to take trametinib? What’s the optimal dose? Will a second attempt at weaning her off it be successful? So many questions… and no definitive answers as yet.
A year and a half ago, her doctors tried to discontinue the trametinib. But her heart reacted poorly, so she was put back on a regular dose only three weeks later. Back to square one.
The future remains uncertain for Lyana and her family. They are determined to take day every day as it comes. In August, she started taking progressively smaller doses of trametinib, under the careful watch of the dedicated teams at Sainte-Justine. How will her heart react? Will Dr. Andelfinger and his colleagues have to reconsider a transplant, the only other option, at one point?
Only time will tell. For now, one thing is certain: Lyana is a bright, cheerful little girl who enjoys life. She is dogged in her determination to keep up with her brothers and sisters. “We were told to expect her to be less active,” said Joël. “She does get tired faster than other kids, but she is definitely a going concern. Even when she was little, she wanted to play soccer, go swimming and play on the swing. We never thought she’d be able to ride a bike like she can now.”
Just shy of four years old, Lyana continues to defy the odds of her condition. Which is no small feat for a little girl who wasn’t supposed to live beyond the age of two…
Research has saved Lyana’s heart. And with your support for new solutions in the future, the hope for finding a cure gets stronger every day.
Thank you for making a difference!