Commonsense reform for the evaluation of ultra-rare illness therapies by the Meals and Drug Administration seemed like a dream come true for households like mine who’re residing with incurable, deadly childhood ailments. In the present day, I fear it might come too late to assist my son.
My son, Declan, has Barth syndrome. This ultra-rare genetic mitochondrial illness impacts fewer than 150 folks in the US. There are not any accredited therapies. An investigational drug that improves mitochondrial perform, elamipretide, has proven promising outcomes for some sufferers, together with my 3-year-old son. This remedy improved his coronary heart perform, power ranges and total well being. With out it, we face an unsure and horrifying future.
In December 2023, I joined practically 20,000 folks to signal a petition urging the FDA to evaluation elamipretide. In 2020, 2022 and 2024, greater than 50 medical specialists wrote to the FDA, urging it to behave. Final October, the Cardiovascular and Renal Medication Advisory Committee concluded that there’s substantial proof of effectiveness to assist the approval of elamipretide for treating Barth syndrome.
This was great progress for our small neighborhood after a few years of training completely different FDA evaluation divisions about our ultra-rare illness and the pressing want for protected and efficient therapy choices.
I wholeheartedly assist Well being and Human Companies Secretary Robert F. Kennedy Jr. and Dr. Marty Makary’s commonsense strategy to creating kids affected by power ailments wholesome once more — and faster. I’ve been pissed off and heartsick on the delays which have lengthy hindered our neighborhood’s entry to this drug. Now, I fear my son will get caught within the crossfire of those important reforms if crucial selections are delayed. Delays are usually not coverage points however a matter of well being, security and survival.
Daily with out motion is a day nearer to dropping the therapy that has given my son a future. With out FDA approval, critically sick kids receiving this drug might lose entry. Households could possibly be pressured to look at our boys’ well being decline, not as a result of science failed however as a result of the FDA didn’t act. I implore Kennedy and Makary to not let reform impede progress for my son and his “Barth brothers.”
I pray that Kennedy and Makary are poised, keen and capable of step into the management breach throughout this crucial interval to make sure that medication reviewed, debated and validated by specialists don’t fall via the bureaucratic cracks. I hope commonsense reforms don’t come on the expense of my son and others like him.
Jamie Dubuque, the mom of a toddler with Barth syndrome, is a frontrunner within the grassroots advocacy marketing campaign Not Too Uncommon to Care/InsideSources
