Dr. Cara O'Neill's daughter, Eliza, receives treatment in 2016 for Sanfilippo syndrome, a rare and fatal childhood neurological disease.

As a pediatrician, I’ve dedicated my career to advocating for children’s health. But when my daughter, Eliza, was diagnosed with Sanfilippo syndrome, a fatal childhood neurological disease, I realized I had to speak even louder, for her and for the millions of children without a voice.

That’s why the Cure Sanfilippo Foundation, which I cofounded, signed on a rare disease coalition letter that was recently sent with more than 43,000 signatures to United States Food and Drug Administration Commissioner Dr. Martin Makary. The coalition’s intention is to meet with Makary and his leadership team to ensure that patients with serious rare diseases aren’t left behind.

Right now, 30 million Americans – half of them children – have rare diseases, 95% of which have no approved treatments. That’s why it’s so concerning that progress has been blocked by the recent rash of FDA denials of proposed treatments from drugmakers, despite the benefit and safety these treatments are showing in clinical trial patients. This means that patients won’t be able to access therapies like Ultragenyx’s Sanfilippo A gene therapy (UX111), Capricor’s cell therapy for Duchenne Muscular Dystrophy, Replimune’s biologic for advanced melanoma and Stealth’s drug for Barth syndrome from their doctors.

And these drugs are needed for patients who often die as children from diseases like Barth and Sanfilippo. That’s why members of Congress, medical doctors, scientists and patients spent months urging the FDA to reverse these decisions as quickly as possible. On Aug. 21, the FDA took a positive step in accepting Stealth’s new application and agreeing to issue a decision in September on whether to approve the drug. But patients don’t have time to wait.

My daughter lost ability to speak. Families like mine can't afford delays.

With each delay, the FDA timeclock gets reset. That means months applying for meetings and preparing extensive documents, followed by an FDA review process that normally takes at least six months – that may still result in more delays or denials. However, for patients whose diseases can go from “bad” to “irreversible decline” in the span of weeks, this means many children will die or suffer severe permanent disability waiting for help.

My family has seen firsthand what happens when access timelines and the progressive nature of a disease don’t align. My daughter waited nearly three years after her diagnosis for an early phase trial of a Sanfilippo A gene therapy to begin enrolling participants. In that time, she went from talking in full sentences, singing and coloring – to struggling to speak even single words and having increasingly uncontrollable screaming and crying spells, sometimes lasting all night.

No parent should have to watch their child lose every skill they once had, but that is the devastating reality of Sanfilippo syndrome. Neurologic brain injury in Sanfilippo is severe and unrelenting. With no approved treatments, families are forced to watch their children suffer over a decade or more developing seizures and pain while losing the ability to walk, to communicate, to eat on their own or even sleep at night.

At age six, my daughter was lucky to get a chance with an experimental gene therapy, UX111. Now at age 15, the average age when children with this disease die, we can see more clearly how she’s benefitted. While her speech hasn’t returned, she continues to meaningfully improve in other ways of communicating, and she sleeps well through the night. We treasured watching her run on the beach and swim in the ocean this summer – things she was only able to do because of the treatment.

FDA must match words with actions, speed up approval

Imagine if she’d been able to get treatment sooner. Children participating in the same trial but at an earlier age and higher dose are doing things that are unheard of for children with Sanfilippo syndrome – playing softball, reading, talking and enjoying playdates at friends' homes.

Time is the most valuable factor for patients and families with terminal rare diseases. Early signals of efficacy and safety should prompt the FDA to move at the speed of patient need.

Patient advocates were encouraged by Makary’s public statements about the intention to increase transparency and support rapid advancement of treatments for rare and serious diseases. But words have to be matched by an FDA commitment to patient-focused drug development.

That’s why families, doctors and advocates are calling on the FDA commissioner and his leadership team to act now – with the flexibility and urgency required to combat serious and very rare diseases. Patients and the innovative therapies their lives depend on can no longer be allowed to fall through the cracks.

The clock is ticking for these children. We must move faster than the speed of degenerative diseases and approve drugs that save lives.

Cara O’Neill, MD, FAAP, is the chief science officer of Cure Sanfilippo Foundation, which she cofounded after her daughter was diagnosed with Sanfilippo syndrome in 2013.

This article originally appeared on USA TODAY: My daughter's brain disease is fatal. FDA's inaction blocks progress for a cure. | Opinion

Reporting by Cara O'Neill / USA TODAY

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