Noonan syndrome is a genetic disorder that affects one out of 2,000 children. It is characterized by unusual facial characteristics, cardiac abnormalities and short stature – and has the dubious distinction of being the most common of all rare diseases. Some 20% to 30% of young Noonan patients are born with a heart defect, which often leads to the thickening of the heart muscle or valves.
For some of them, like little Lyana who has a severe form of the syndrome, the thickening is so excessive it requires aggressive treatment, which involves a high degree of risk and often delivers mixed results.
But recently, we succeeded in turning things around. We pulled out all the stops for Lyana, whose chances of making it past her second birthday were a mere 20%.
We saved her life, and we have the colossal efforts of our dedicated team to thank for it. By administering trametinib, a drug traditionally used in the treatment of certain types of cancer, we were able to reduce her dangerously enlarged heart to normal size.
This was a huge victory – and one that fills us with hope. We went from a syndrome where the only thing we could do was try to alleviate the symptoms to a treatable condition. This advance clearly shows how much of an impact research can have on our patients. But it also emphasizes the importance of basic research.
Thanks to the progress that you, our donors, have made possible, we can now diagnose Noonan syndrome early, either in the womb or shortly after delivery. Genomics has been a game-changer in this regard. This breakthrough is an extraordinary one.
But early diagnosis is one thing. What about treatment? The solution used for Lyana won’t necessarily work on all children with this syndrome. A number of questions remain: How long does the drug need to be administered? Are there any adverse outcomes over the long term? What is the optimal dose? What is the effect of this treatment on other symptoms? Can it be started earlier? Are there other drugs similar to trametinib that would be even more effective?
So many questions, but precious few answers. The key moving forward will be research.
I firmly believe that the future of our children, and our society, is dependent on research. So do countless families with a child suffering from a heart defect. With your help, we will do everything in our power to show this is true.
Together, we are building on a long history of excellence, but much still remains to be done. Sainte-Justine is currently at a pivotal research phase. We are developing the therapies of the future right now, and right here in Montreal.
Yesterday’s research is today’s treatment, and today’s research is tomorrow’s treatment.
Your gifts are much more than a matter of dollars and cents. With each donation, you are showing that you believe we can do even better and that you share our vision – a vision that has touched the hearts and lives of thousands of families here at Sainte-Justine and rippled over to so many others like them.
Thank you for putting your faith in us and in the future.