Jamie Dubuque faces the future with a mixture of gratitude and trepidation.
Her son, Declan, who turns 2 years old in January, survived a life-threatening episode of cardiac arrest that sent him to a hospital emergency room a year ago. But since being diagnosed with an ultra-rare disease, he has been treated with an experimental medicine that has transformed his day-to-day existence.
The toddler has Barth syndrome, which causes an enlarged heart, muscle weakness, and a shortened life expectancy. Although he is now doing well and has avoided the need for a heart transplant, another problem is looming. Declan gets the medicine through a special access program called compassionate use, but the company that developed the drug may soon walk away from the project if it fails to win approval to market its medicine — meaning Declan would lose access to it.