Without FDA flexibility for rare diseases our daughter’s future is at risk
November 2025
Dear Editor
At seven days old, our daughter lay limp and barely breathing in my arms. After a litany of tests and 24 days in the NICU, it was determined she suffered a massive stroke on the right side of her brain. They sent us home with little more than “you’d be surprised, kids like this do better than you’d expect” and a phone number for our local therapy services.
Over the next year and a half, my husband and I noticed symptoms that were getting more and more difficult to be explained by stroke alone. At every medical appointment we brought stacks of paperwork; excel spreadsheets showing abnormal bloodwork trends, height and weight values that were plunging off the typical curve, and videos of her choking on her own saliva. We pleaded with her doctors to listen, to test for an underlying cause of her stroke, but all we got in return was, “you’re just not feeding her enough, you’re just not hydrating her enough, you’re just not medicating her enough, you’re just not … enough.”
Eventually our persistence paid off, and genetic testing confirmed she had a rare mitochondrial disease called pyruvate dehydrogenase complex deficiency (PDCD). Finally, we had a diagnosis.
The relief we felt only lasted the length of time it took me to pull my phone out of my pocket. When I entered those four big words into my browser’s search field, the first thing to come up was this; 90% of children with PDCD die by the age of four. Our daughter was almost two. Did we really have only two more years with her?
The next few weeks were spent in a surreal state of depression and disbelief. Then a glimpse of hope came in the form of a clinical trial with a promising medication. The medication works by inhibiting the enzyme that turns off the pyruvate dehydrogenase complex (PDC). Children with PDCD have a poorly functioning PDC, so the more their PDC is active, the more they can effectively convert food into energy.
Our daughter has been on this trial medication now for over three years, and in that time, she has made huge developmental gains. At three years old, just four months after starting the trial, she took her first independent steps. Within one year, she transitioned from a feeding tube to eating and drinking 100% by mouth.
This has become a lifeline for her. It is the reason she sleeps through the night. The reason she has energy to play. The reason she is stable and alert enough to attend school.
Every month like clockwork the medication is delivered to our front door, wrapped up in red tamper proof tape, but this month may have been our last. On August 27th, we received the devastating news the FDA would not be approving the medication to treat kids with PDCD.
This month marks my daughter’s 6th birthday, a milestone we at one time thought would never see. At a time we should be celebrating, we are once again fighting for her life. Will six years old mark the last time she will have access to this medication? Will we start losing the smiles, the conversations about her school day, the impromptu dance parties? Will we see her daily debilitating pain creep back in? Will we lose the spunky, full of life daughter we know?
We need the FDA’s help to find an expeditious path forward. Rare diseases with small patient populations need regulatory flexibility. They can’t be held to the same standards as larger patient populations. We just don’t have the numbers. There are only 1,000 kids in the U.S. with PDCD, even if you could get every single one of those kids into a clinical trial it would be extremely difficult to produce statistically significant results. Compound that with the fact kids with PDCD experience a broad range of disease severity and it is nearly impossible.
The initial meeting with the FDA regarding this medication for the treatment of PDCD was over 12 years ago. With a typical lifespan of early childhood, our kids don’t have time to wait any longer for approval. We need access now.
Meagan DeRaps, RARE Mother
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